Materiały źródłowe

• #1 Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/188613-overview

  In the United States, hereditary nonpolyposis colorectal cancer (HNPCC) constitutes 2-5% of all colorectal cancers, or approximately 7500 new cases annually. Internationally, large geographic differences are observed in the incidence rate. […] Colorectal cancer in persons with HNPCC occurs at an earlier age than in the general population; the average age of polyp onset is in the late second decade and early third decade of life. In families that meet clinical criteria for HNPCC (Amsterdam criteria; see Presentation/History) the average age of colorectal cancer onset is 44 years, as compared with age 60-65 years in the general population. […] HNPCC has no known racial proclivity; however, ethnic-specific mutations have been observed in the Finnish and Swedish populations. Colorectal cancer rates in the Ashkenazi Jewish population are disproportionately high, possibly the highest of any ethnic group worldwide. Although HNPCC is not more common in Ashkenazi Jews than in the general population, a specific mutation in the MSH2 gene, G1906K, is found in 2-3% of all colorectal cancers in Ashkenazi Jews younger than 60 years, in 7% of those age 40 years or younger, and in one third of those who meet the criteria for genetic testing for HNPCC. This mutation is rarely found in the general population, and is found in less than 1% of Ashkenazi Jews in whom colorectal cancer is diagnosed after age 60 years. […] HNPCC is diagnosed with equal frequency men and women. Among MSH2 mutation carriers, however, the risk of colorectal cancer is higher in males than females.

• #2 Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/35177335/

  Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, with an estimated prevalence of 2% to 3% of CRC. […] A total of 51 studies were included in this review. The overall pooled yield of LS screening was 2.2% based on all methods of detection. […] LS prevalence across multiple ethnic, geographic, and clinical populations is remarkably similar. Universal germline testing of patients presenting with cancer identifies that most CRCs are attributed to LS. Young patients presenting with CRC and those who fulfill criteria for a familial risk provide the highest returns for LS identification. Our study supports the universal germline CRC screening for LS.

• #3 Lynch syndrome: 10 things to know about this genetic condition | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/qa-understanding-and-managing-lynch-syndrome.h00-158589789.html

  Lynch syndrome is a genetic condition that makes some people more likely to develop certain cancers. […] Historically, Lynch syndrome has been considered a rare genetic condition. But today, there are around 1 million carriers of Lynch syndrome in the United States alone. And 1 million is a lot. So, its not actually that rare. […] Among the general population, about 1 in 279 people has Lynch syndrome. […] The lifetime risk of developing colorectal cancer in the general population is about 5%. Among Lynch syndrome carriers, though, it jumps to between 40% and 80%. […] Women also have a 40% to 60% chance of developing endometrial cancer. […] The risks for each mutation are different, so approaches vary. Generally speaking, though, carriers of the MLH1 or MSH2 mutations have higher risks than people carrying the MSH6 or PMS2 mutations.

• #4 Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/35177335/

  Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, with an estimated prevalence of 2% to 3% of CRC. […] A total of 51 studies were included in this review. The overall pooled yield of LS screening was 2.2% based on all methods of detection. […] LS prevalence across multiple ethnic, geographic, and clinical populations is remarkably similar. Universal germline testing of patients presenting with cancer identifies that most CRCs are attributed to LS. Young patients presenting with CRC and those who fulfill criteria for a familial risk provide the highest returns for LS identification. Our study supports the universal germline CRC screening for LS.

• #5

  https://www.cancervic.org.au/cancer-information/genetics-and-risk/lynch-syndrome

  Lynch syndrome is believed to be Australia’s most common inherited cancer risk, with one in 280 Australians believed to carry the mismatch repair gene deficiency. […] However, only 5% of Australians with Lynch syndrome have been diagnosed. […] Today, all colorectal and endometrial cancers should be tested for the signature mismatch repair deficiency which alerts us to the possibility of Lynch Syndrome. […] Once you have been diagnosed with Lynch syndrome it is important to develop a surveillance plan. This outlines the routine tests you should have, identifying what these tests are and how often they should be performed. […] The surveillance plan for most families will follow the standard National guidelines. In Australia, the current guidelines recommend two specific things: Annual colonoscopy is recommended from age 25 (MLH1 or MSH2 gene variant) or age 30 (MSH6 or PMS2 gene variant), or 5 years younger than youngest colorectal cancer affected relative.

• #6 Lynch Syndrome: Reducing the Risk of Cancer with Genetic Precision

  https://www.nyp.org/newsletters/prof-adv/gastro/lynch-syndrome-reducing-the-risk-of-cancer-with-genetic-precision

  Specialists in the GI clinical cancer genetics programs at NewYork-Presbyterian Hospital are pursuing research to develop the optimal screening strategy for Lynch syndrome in order to define the appropriate management from surveillance to annual colonoscopies based on an individuals particular genetic risk and on the particular gene that is altered. […] Lynch syndrome is the most common hereditary gastrointestinal cancer syndrome, affecting more than one million Americans. […] Although studies have shown that even though Lynch syndrome is the most common colon cancer predisposition syndrome, some 65 to 85 percent of community hospital cancer programs do not screen for this syndrome and only 1 in 4 individuals who met criteria were screened in the Cancer Research Network. […] And while early, regular and vigilant cancer screenings can save lives, less than 5 percent of people with the syndrome know they have it.

• #7 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Lynch syndrome (LS) is present in about 1 in 400 people in the UK, it estimated that only 5% of people with this condition are aware of the diagnosis. […] Therefore, testing for LS in all new diagnoses of colorectal or endometrial cancers is now recommended in the UK, and gastroenterologists can offer mainstreamed genetic testing for LS to patients with cancer. […] Patients diagnosed with LS require lifelong coordinated multidisciplinary care, where the application of interventions provides many opportunities to reduce cancer risk. […] Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers. […] The cumulative lifetime incidence of CRC in people with LS (MLH1 45%, MSH2 35%, MSH6 20% PMS2 14%) is considerably higher than in the general population.

• #8 Urology & Continence Care Today | May 2025

  https://www.ucc-today.com/journals/issue/launch-edition/article/lynch-syndrome-following-leads-save-lives-ucct

  Lynch syndrome is an inherited genetic condition and there could be over 175,000 people in the UK. About half of all people with Lynch syndrome develop colorectal cancer and it is also responsible for other cancers, including endometrial, gastric, small bowel, urothelial and brain cancers. […] Research shows that there could be over 175,000 people in the UK with the genetic condition Lynch syndrome (National Institute for Health and Care [NICE], 2016). […] Those leads are largely found in two ways. First, through testing those with bowel cancer to see if they have Lynch syndrome so that their relatives can be tested to see if they have also inherited the condition, this is done in secondary care. The second way is through identifying individuals with what are termed high risk family histories so that they can be tested for Lynch syndrome. This can be achieved in primary or secondary care.

• #9 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Lynch syndrome (LS) is present in about 1 in 400 people in the UK, it estimated that only 5% of people with this condition are aware of the diagnosis. […] Therefore, testing for LS in all new diagnoses of colorectal or endometrial cancers is now recommended in the UK, and gastroenterologists can offer mainstreamed genetic testing for LS to patients with cancer. […] Patients diagnosed with LS require lifelong coordinated multidisciplinary care, where the application of interventions provides many opportunities to reduce cancer risk. […] Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers. […] The cumulative lifetime incidence of CRC in people with LS (MLH1 45%, MSH2 35%, MSH6 20% PMS2 14%) is considerably higher than in the general population.

• #10

  https://www.cancervic.org.au/cancer-information/genetics-and-risk/lynch-syndrome

  Lynch syndrome is believed to be Australia’s most common inherited cancer risk, with one in 280 Australians believed to carry the mismatch repair gene deficiency. […] However, only 5% of Australians with Lynch syndrome have been diagnosed. […] Today, all colorectal and endometrial cancers should be tested for the signature mismatch repair deficiency which alerts us to the possibility of Lynch Syndrome. […] Once you have been diagnosed with Lynch syndrome it is important to develop a surveillance plan. This outlines the routine tests you should have, identifying what these tests are and how often they should be performed. […] The surveillance plan for most families will follow the standard National guidelines. In Australia, the current guidelines recommend two specific things: Annual colonoscopy is recommended from age 25 (MLH1 or MSH2 gene variant) or age 30 (MSH6 or PMS2 gene variant), or 5 years younger than youngest colorectal cancer affected relative.

• #11

  https://www.aboutgeneticcounselors.com/Resources-to-Help-You/Post/lynch-syndrome-a-common-yet-under-recognized-hereditary-cancer-predisposition

  Lynch syndrome is the most common inherited predisposition to colorectal and endometrial (uterine) cancers, yet is it under-diagnosed. Around 90-95% of people who have Lynch syndrome are not aware of their condition. This is a major concern because many of the cancers associated with Lynch syndrome are preventable or could be detected earlier through intensive cancer surveillance. […] Identifying patients with Lynch syndrome also helps with testing other members of their family who may be at risk and helps ensure access to care for patients who have high risks for cancer. […] Lynch syndrome is suspected when multiple relatives over multiple generations have had colorectal cancer or other Lynch syndrome-related cancers, or when an individual has a Lynch syndrome-related cancer at a young age (50) or any cancer with features of Lynch syndrome.

• #12 MMR genes (Lynch syndrome) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/1410-mmr-genes-lynch-syndrome-risk-management

  Lynch syndrome is an autosomal dominant condition caused by germline pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 or from deletions in the 3′ end of the EPCAM gene affecting MSH2 function. […] The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised. […] The choice of risk management strategy should take into account current age, other health issues and age-related cancer risk. Risks and benefits of interventions should be discussed with an experienced medical professional. […] The impact of lifestyle on cancer risk should be discussed e.g. exercise most days for at least 30 minutes at moderate or strenuous intensity, maintain a healthy weight, have a healthy diet, limit alcohol intake, do not smoke and avoid excessive sun exposure.

• #13

  https://omim.org/entry/120435

  A number sign (#) is used with this entry because Lynch syndrome-1 (LYNCH1), also known as hereditary nonpolyposis colorectal cancer (HNPCC1), is caused by heterozygous mutation in the mismatch repair gene MSH2 (609309) on chromosome 2p21-p16. […] Lynch syndrome (LYNCH), also called hereditary nonpolyposis colorectal cancer, is defined as an autosomal dominant predisposition to a spectrum of cancers, primarily of the colorectum and endometrium, which exhibit impaired DNA mismatch repair (MMR) activity (summary by Lynch et al., 2015). […] Lynch syndrome is a genetically heterogeneous disease. […] Since defects in the MSH2 gene may account for as many as 60% of Lynch syndrome cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of Lynch syndrome cases.

• #14 Impact of population screening for Lynch syndrome insights from the All of Us data | Nature Communications

  https://www.nature.com/articles/s41467-024-52562-5

  Lynch Syndrome (LS) is a common genetic cancer condition that allows for personalized cancer prevention and early cancer detection in identified gene carriers. […] The results suggest that population-based germline testing for LS may identify up to 63.2% of carriers who might remain undetected due to lack of personal or family cancer history. […] LS affects about 1 in 354 individuals in this U.S. cohort, where pathogenic variants in the genes MSH6 and PMS2 account for the majority of cases. […] To optimize the identification of LS, the Centers for Disease Control (CDC) has classified LS, as well as Hereditary Breast and Ovarian Cancer syndrome (HBOC) associated with pathogenic variants in the BRCA1 and BRCA2 genes, and Familial Hypercholesterolemia (FH), as Tier 1 conditions; this classification supports genetic testing in the general population given the substantial public health impact associated with adherence to preventive and risk-reducing strategies as per existing guidelines and evidence-based recommendations.

• #15 Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/188613-overview

  In the United States, hereditary nonpolyposis colorectal cancer (HNPCC) constitutes 2-5% of all colorectal cancers, or approximately 7500 new cases annually. Internationally, large geographic differences are observed in the incidence rate. […] Colorectal cancer in persons with HNPCC occurs at an earlier age than in the general population; the average age of polyp onset is in the late second decade and early third decade of life. In families that meet clinical criteria for HNPCC (Amsterdam criteria; see Presentation/History) the average age of colorectal cancer onset is 44 years, as compared with age 60-65 years in the general population. […] HNPCC has no known racial proclivity; however, ethnic-specific mutations have been observed in the Finnish and Swedish populations. Colorectal cancer rates in the Ashkenazi Jewish population are disproportionately high, possibly the highest of any ethnic group worldwide. Although HNPCC is not more common in Ashkenazi Jews than in the general population, a specific mutation in the MSH2 gene, G1906K, is found in 2-3% of all colorectal cancers in Ashkenazi Jews younger than 60 years, in 7% of those age 40 years or younger, and in one third of those who meet the criteria for genetic testing for HNPCC. This mutation is rarely found in the general population, and is found in less than 1% of Ashkenazi Jews in whom colorectal cancer is diagnosed after age 60 years. […] HNPCC is diagnosed with equal frequency men and women. Among MSH2 mutation carriers, however, the risk of colorectal cancer is higher in males than females.

• #16 Lynch syndrome — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/lynch-syndrome/

  Lynch syndrome (formerly known as hereditary non-polyposis colorectal cancer, or HNPCC) is an autosomal dominant hereditary cancer syndrome, associated with a 40%80% lifetime risk of developing colorectal, endometrial and other cancers. […] Individuals with Lynch syndrome have an increased lifetime risk of a variety of cancers, most commonly colorectal cancer or endometrial cancer, as well as ovarian, pancreaticobiliary, gastric, small intestinal, brain, urinary tract, skin and other cancers. The exact risks depend on the underlying genotype. […] NICE guidelines recommend screening all colorectal cancers and all endometrial cancers for Lynch syndrome at first diagnosis. […] Surveillance for colorectal cancer by screening colonoscopy every two years (from age 25 for carriers of constitutional pathogenic variants in MLH1 or MSH2 and age 35 for carriers of constitutional pathogenic variants in MSH6 or PMS2).

• #17 Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium | Hereditary Cancer in Clinical Practice | Full Text

  https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-022-00241-1

  To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. […] CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. […] In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%.

• #18 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Lynch syndrome (LS) is present in about 1 in 400 people in the UK, it estimated that only 5% of people with this condition are aware of the diagnosis. […] Therefore, testing for LS in all new diagnoses of colorectal or endometrial cancers is now recommended in the UK, and gastroenterologists can offer mainstreamed genetic testing for LS to patients with cancer. […] Patients diagnosed with LS require lifelong coordinated multidisciplinary care, where the application of interventions provides many opportunities to reduce cancer risk. […] Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers. […] The cumulative lifetime incidence of CRC in people with LS (MLH1 45%, MSH2 35%, MSH6 20% PMS2 14%) is considerably higher than in the general population.

• #19 Lynch syndrome: 10 things to know about this genetic condition | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/qa-understanding-and-managing-lynch-syndrome.h00-158589789.html

  Lynch syndrome is a genetic condition that makes some people more likely to develop certain cancers. […] Historically, Lynch syndrome has been considered a rare genetic condition. But today, there are around 1 million carriers of Lynch syndrome in the United States alone. And 1 million is a lot. So, its not actually that rare. […] Among the general population, about 1 in 279 people has Lynch syndrome. […] The lifetime risk of developing colorectal cancer in the general population is about 5%. Among Lynch syndrome carriers, though, it jumps to between 40% and 80%. […] Women also have a 40% to 60% chance of developing endometrial cancer. […] The risks for each mutation are different, so approaches vary. Generally speaking, though, carriers of the MLH1 or MSH2 mutations have higher risks than people carrying the MSH6 or PMS2 mutations.

• #20 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Patients with LS have an accelerated pathway to carcinogenesis compared with the general population. […] In 2016, a multisociety meeting recommended the development of a quality-assured surveillance programme for people with LS, and from April 2023, the national screening programme in England will deliver this surveillance. […] The gene-specific risk of developing upper GI malignancy ranges from 1% to 13%, but is highest in MLH1 and MSH2 gene carriers. […] Lifetime risk of endometrial cancer is between 20% and 70% for MLH1, MSH2, MSH6 variant carriers, and 10% and 15% for PMS2 variant carriers, with a lesser but nevertheless increased risk of ovarian cancer. […] In 2019, the BSG guidelines recommended that aspirin be offered to people with LS, and in 2020, NICE made the same recommendation, producing a decision aid to help patients understand the benefits of aspirin in the context of a diagnosis of LS. […] Overall, in recognition and identification of patients and families at risk of LS, diagnosis and intervention will help to work towards reduction in cancer burden in these patients.

• #21 Lynch syndrome – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/lynch-syndrome/

  Lynch syndrome, or hereditary nonpolyposis colon cancer (HNPCC), is a familial cancer syndrome caused by an autosomal dominant mutation in DNA mismatch repair (MMR) genes. […] Epidemiological data refers to the US, unless otherwise specified. […] Most common cause of inherited CRC. […] Accounts for approx. 38% of all new cases of CRC. […] Individuals with Lynch syndrome have a 70-80% lifetime risk of developing CRC. […] Average age of onset: 44 years. […] Increased lifetime risk of associated cancers (by age 70): Endometrial cancer: up to 40%, Gastric cancer: 10%, Ovarian tumors: 10%, Urothelial cancer: up to 10%, Skin: 4%, Small bowel cancer: 2%, Brain tumor: 2%, Biliary tract cancer: 2%.

• #22 SciELO Brazil – Historical review of Lynch syndrome Historical review of Lynch syndrome

  https://www.scielo.br/j/jcol/a/YkSszNxGjZT47FbTmSdtjPH/

  Lynch syndrome was formerly known as Hereditary Nonpolyposis Colorectal Cancer. […] This has led to the ability to diagnose affected patients before they manifest with cancer, and therefore allow preventative surveillance strategies. […] Various surveillance strategies are recommended dependent on the relative risk of cancer and the ability to intervene with surgery to impact on survival. […] Current surveillance recommendations also start in Lynch patients as early as age 20-25 (or 10 years prior to family member’s cancer diagnosis, whichever is earlier) with colonoscopy. Intervals are every two years, until 40, then yearly afterwards. Regular surveillance is proven to reduce both incidence (11% vs 27%) and death (2% vs 12%) from CRC. […] Surveillance is an important part of the management of a patient with Lynch syndrome. Optimal surveillance requires a multidisciplinary approach involving primary care physicians, gastroenterologists, gynecologists and colorectal surgeons.

• #23 Lynch syndrome (hereditary nonpolyposis colorectal cancer): Cancer screening and management – UpToDate

  https://www.uptodate.com/contents/lynch-syndrome-hereditary-nonpolyposis-colorectal-cancer-cancer-screening-and-management

  Individuals with Lynch syndrome have an increased risk of colorectal and endometrial cancer. Other sites of cancer include the ovary, stomach, small bowel, pancreatobiliary system, genitourinary system (urothelial cancer), prostate, brain, and skin. There may also be an increased risk of breast cancer in individuals with Lynch syndrome. […] This topic will review recommendations for screening and surveillance of individuals with Lynch syndrome and their families. Guidelines for cancer screening in patients diagnosed with Lynch syndrome have been proposed by several groups including: the American College of Gastroenterology, United States Multi-Society Task Force on Colorectal Cancer, European Hereditary Tumor Group, the Manchester International Consensus Group, the British Society of Gastroenterology, the European Society of Medical Oncology, American Society of Clinical Oncology, and National Comprehensive Cancer Network. Our recommendations are largely consistent with these guidelines.

• #24 Lynch Syndrome: From Multidisciplinary Management to Precision Prevention

  https://www.mdpi.com/2072-6694/16/5/849

  Endoscopy remains the gold standard method for colorectal cancer (CRC) surveillance in patients with LS. The surveillance program is tailored to the cumulative risk of CRC development in LS patients. […] Various endoscopic societies recommend starting endoscopic CRC surveillance at 25 years of age for patients with MLH1 and MSH2 mutations. […] The recommended surveillance interval for colonoscopy has now been set at 2 years by the European, Japanese, and American endoscopy societies. […] Genetic counselling is recommended for patients with a 5% risk of LS, as assessed by MMRpro and the PREMM1, 2, 6 models. […] A universal screening strategy has been increasingly adopted, which consists of testing for specific molecular features in all CRCs and endometrial cancers in order to detect the specific feature of CRC and endometrial cancer associated with LS.

• #25 Lynch Syndrome: Reducing the Risk of Cancer with Genetic Precision

  https://www.nyp.org/newsletters/prof-adv/gastro/lynch-syndrome-reducing-the-risk-of-cancer-with-genetic-precision

  Surveillance colonoscopy exams to identify polyps have been shown to decrease incidence and mortality for colorectal cancer in this patient population. […] The early identification of individuals with Lynch syndrome and their at-risk family members is crucial for the implementation of effective cancer prevention strategies. […] At Weill Cornell Medicine a study is currently underway to investigate gene-dependent management of risk in Lynch syndrome and how to best manage and screen people based on their individual genetic mutations. […] The current goal of gastrointestinal genetic specialists is to increase awareness and genetic testing among at-risk first-degree relatives, as well as extended family, as the gene associated with Lynch syndrome is inherited in an autosomal dominant pattern from one generation to the next.

• #26 Table 8. [Recommended Surveillance for Individuals with Lynch Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1211/table/hnpcc.T.recommended_surveillance_for_ind/

  Recommended Surveillance for Individuals with Lynch Syndrome. Colonoscopy w/removal of precancerous polyps every 1-2 yrs beginning between ages 20-25 yrs or 2-5 yrs before earliest CRC diagnosis in the family, whichever is earlier. Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding). Annually consider transvaginal ultrasound exam endometrial biopsy every 1-2 yrs. Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, abdominal girth, difficulty eating, early satiety, urinary frequency or urgency). Annually. Consider upper endoscopy exam esp for those w/family history of gastric cancer those of Asian ancestry every 3-5 yrs beginning between ages 30-35 yrs. Consider urine analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. Annually beginning between ages 30-35 yrs. Consider pancreatic cancer screening in those w/family history of pancreatic cancer w/alternating EUS/or MRI/MRCP annually. Limited data exist to advocate for surveillance for urothelial cancers in Lynch syndrome. Surveillance may be considered in individuals with a family history of urothelial cancer. […] Upper gastrointestinal endoscopy has recently been recommended for surveillance in individuals with Lynch syndrome. However, this has not yet been included in surveillance guidelines for all individuals with Lynch syndrome, rather only in individuals with specific risk factors.

• #27 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Lynch syndrome (LS) is present in about 1 in 400 people in the UK, it estimated that only 5% of people with this condition are aware of the diagnosis. […] Therefore, testing for LS in all new diagnoses of colorectal or endometrial cancers is now recommended in the UK, and gastroenterologists can offer mainstreamed genetic testing for LS to patients with cancer. […] Patients diagnosed with LS require lifelong coordinated multidisciplinary care, where the application of interventions provides many opportunities to reduce cancer risk. […] Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers. […] The cumulative lifetime incidence of CRC in people with LS (MLH1 45%, MSH2 35%, MSH6 20% PMS2 14%) is considerably higher than in the general population.

• #28 Lynch Syndrome: From Multidisciplinary Management to Precision Prevention

  https://www.mdpi.com/2072-6694/16/5/849

  Endoscopy remains the gold standard method for colorectal cancer (CRC) surveillance in patients with LS. The surveillance program is tailored to the cumulative risk of CRC development in LS patients. […] Various endoscopic societies recommend starting endoscopic CRC surveillance at 25 years of age for patients with MLH1 and MSH2 mutations. […] The recommended surveillance interval for colonoscopy has now been set at 2 years by the European, Japanese, and American endoscopy societies. […] Genetic counselling is recommended for patients with a 5% risk of LS, as assessed by MMRpro and the PREMM1, 2, 6 models. […] A universal screening strategy has been increasingly adopted, which consists of testing for specific molecular features in all CRCs and endometrial cancers in order to detect the specific feature of CRC and endometrial cancer associated with LS.

• #29

  https://www.cancervic.org.au/cancer-information/genetics-and-risk/lynch-syndrome

  Lynch syndrome is believed to be Australia’s most common inherited cancer risk, with one in 280 Australians believed to carry the mismatch repair gene deficiency. […] However, only 5% of Australians with Lynch syndrome have been diagnosed. […] Today, all colorectal and endometrial cancers should be tested for the signature mismatch repair deficiency which alerts us to the possibility of Lynch Syndrome. […] Once you have been diagnosed with Lynch syndrome it is important to develop a surveillance plan. This outlines the routine tests you should have, identifying what these tests are and how often they should be performed. […] The surveillance plan for most families will follow the standard National guidelines. In Australia, the current guidelines recommend two specific things: Annual colonoscopy is recommended from age 25 (MLH1 or MSH2 gene variant) or age 30 (MSH6 or PMS2 gene variant), or 5 years younger than youngest colorectal cancer affected relative.

• #30 Lynch Syndrome: From Multidisciplinary Management to Precision Prevention

  https://www.mdpi.com/2072-6694/16/5/849

  Endoscopy remains the gold standard method for colorectal cancer (CRC) surveillance in patients with LS. The surveillance program is tailored to the cumulative risk of CRC development in LS patients. […] Various endoscopic societies recommend starting endoscopic CRC surveillance at 25 years of age for patients with MLH1 and MSH2 mutations. […] The recommended surveillance interval for colonoscopy has now been set at 2 years by the European, Japanese, and American endoscopy societies. […] Genetic counselling is recommended for patients with a 5% risk of LS, as assessed by MMRpro and the PREMM1, 2, 6 models. […] A universal screening strategy has been increasingly adopted, which consists of testing for specific molecular features in all CRCs and endometrial cancers in order to detect the specific feature of CRC and endometrial cancer associated with LS.

• #31 Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance

  https://www.mdpi.com/2077-0383/10/11/2458

  Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). […] Surveillance by colonoscopy is a recommended preventive measure in LS mutation carriers. […] However, in contrast to the general population, a substantial proportion of LS mutation carriers develop “incident carcinomas”, or “post-colonoscopy CRC” despite regular colonoscopy. […] In fact, recent prospective studies collecting evidence from patients under surveillance demonstrated no difference in cumulative cancer incidence up to the age of 70 years when compared to studies on retrospective cohorts without surveillance. […] The majority of incident cancers were detected after previous colonoscopy without any pathological findings. […] In conclusion, our study identifies a set of features indicative of biological differences between incident and prevalent cancers in LS, which should further be monitored in prospective LS screening studies to guide towards optimized prevention protocols.

• #32 Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report | Hereditary Cancer in Clinical Practice | Full Text

  https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-019-0127-3

  However, we have recently reported that for pathogenic mismatch repair (path_MMR) variant carriers, 12 yearly colonoscopy surveillance strategies do not result in a lower incidence of CRC, compared to a three-yearly strategy. […] Recently, the Prospective Lynch Syndrome Database (PLSD) reported CRC stage data from 9 countries showing that 12 yearly colonoscopy was not associated with a diagnosis of CRC at an earlier stage than 3-yearly colonoscopy. […] Because the current prospective evidence suggests that annual colonoscopies compared to three yearly colonoscopies do not benefit path_MMR carriers in terms of CRC incidence or earlier cancer stage at diagnosis, we aimed to determine if survival after colon cancer differs according to the intervals of colonoscopies undertaken prior to cancer diagnosis in path_MMR carriers.

• #33 Lynch Syndrome X-Talk of Enteral Mucosa With Immune System | Clinical Research Trial Listing

  https://www.centerwatch.com/clinical-trials/listings/NCT06708429/lynch-syndrome-x-talk-of-enteral-mucosa-with-immune-system?country=Italy&city=Cagliari

  Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central nervous system, skin, among others). […] Despite adherence to cancer surveillance programs, many patients still develop colorectal cancer and endometrial cancer. The Prospective Lynch Syndrome Database (PLSD) suggests that more frequent surveillance intervals do not significantly improve cancer risk reduction. […] The risk of developing colorectal cancer in individuals with Lynch syndrome remains high despite endoscopic surveillance. […] Understanding the biological processes underlying these interval colorectal cancers would help define targets of innovative therapies to prevent colorectal cancer (including but not limited to chemoprevention strategies and cancer vaccines).

• #34

  https://link.springer.com/article/10.1007/s10689-024-00414-y

  However, the extent to which colonoscopy effectively prevents CRC in LS remains an ongoing controversy. […] During the last three years a significant amount of new data have emerged assessing the role of surveillance colonoscopy in LS. […] Colonoscopy prevents CRC mainly by the detection and removal of precursor lesions in the colorectum, known as polyps. […] Adenomas are the main precursor of CRC in LS, and evidence suggests that serrated lesions do not play a significant role. […] However, in the last decade a large amount of evidence has shown that the effectiveness of colonoscopy in CRC prevention is heterogenous due to variable quality between procedures. […] Several factors contribute to colonoscopy quality, including bowel preparation, withdrawal time, cecal intubation, appropriate polypectomy technique, endoscopist adenoma detection rate (ADR), among others.

• #35

  https://link.springer.com/article/10.1007/s10689-024-00414-y

  Notably, ADR stands out as the most extensively studied colonoscopy quality indicator. […] Consequently, ADR serves as a benchmark for evaluating endoscopist performance, distinguishing between lower and higher performers with direct clinical implications. […] In summary, quality standards are often not met in LS surveillance with likely direct consequences for adenoma detection and PCCRC incidence. […] Based on the described studies, guidelines from the European Society of Gastrointestinal Endoscopy (ESGE) and National Comprehensive Cancer Network (NCCN) recommend that colonoscopy surveillance should be performed in dedicated centers and likely, by more experienced endoscopists. […] However, more evidence is needed to establish the impact of quality colonoscopy indicators and the PCCRC risk in LS and define specific quality indicators in this population.

• #36 Lynch syndrome (hereditary nonpolyposis colorectal cancer): Cancer screening and management – UpToDate

  https://www.uptodate.com/contents/lynch-syndrome-hereditary-nonpolyposis-colorectal-cancer-cancer-screening-and-management

  Individuals with Lynch syndrome have an increased risk of colorectal and endometrial cancer. Other sites of cancer include the ovary, stomach, small bowel, pancreatobiliary system, genitourinary system (urothelial cancer), prostate, brain, and skin. There may also be an increased risk of breast cancer in individuals with Lynch syndrome. […] This topic will review recommendations for screening and surveillance of individuals with Lynch syndrome and their families. Guidelines for cancer screening in patients diagnosed with Lynch syndrome have been proposed by several groups including: the American College of Gastroenterology, United States Multi-Society Task Force on Colorectal Cancer, European Hereditary Tumor Group, the Manchester International Consensus Group, the British Society of Gastroenterology, the European Society of Medical Oncology, American Society of Clinical Oncology, and National Comprehensive Cancer Network. Our recommendations are largely consistent with these guidelines.

• #37 Table 8. [Recommended Surveillance for Individuals with Lynch Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1211/table/hnpcc.T.recommended_surveillance_for_ind/

  Recommended Surveillance for Individuals with Lynch Syndrome. Colonoscopy w/removal of precancerous polyps every 1-2 yrs beginning between ages 20-25 yrs or 2-5 yrs before earliest CRC diagnosis in the family, whichever is earlier. Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding). Annually consider transvaginal ultrasound exam endometrial biopsy every 1-2 yrs. Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, abdominal girth, difficulty eating, early satiety, urinary frequency or urgency). Annually. Consider upper endoscopy exam esp for those w/family history of gastric cancer those of Asian ancestry every 3-5 yrs beginning between ages 30-35 yrs. Consider urine analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. Annually beginning between ages 30-35 yrs. Consider pancreatic cancer screening in those w/family history of pancreatic cancer w/alternating EUS/or MRI/MRCP annually. Limited data exist to advocate for surveillance for urothelial cancers in Lynch syndrome. Surveillance may be considered in individuals with a family history of urothelial cancer. […] Upper gastrointestinal endoscopy has recently been recommended for surveillance in individuals with Lynch syndrome. However, this has not yet been included in surveillance guidelines for all individuals with Lynch syndrome, rather only in individuals with specific risk factors.

• #38 Table 8. [Recommended Surveillance for Individuals with Lynch Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1211/table/hnpcc.T.recommended_surveillance_for_ind/

  Recommended Surveillance for Individuals with Lynch Syndrome. Colonoscopy w/removal of precancerous polyps every 1-2 yrs beginning between ages 20-25 yrs or 2-5 yrs before earliest CRC diagnosis in the family, whichever is earlier. Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding). Annually consider transvaginal ultrasound exam endometrial biopsy every 1-2 yrs. Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, abdominal girth, difficulty eating, early satiety, urinary frequency or urgency). Annually. Consider upper endoscopy exam esp for those w/family history of gastric cancer those of Asian ancestry every 3-5 yrs beginning between ages 30-35 yrs. Consider urine analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. Annually beginning between ages 30-35 yrs. Consider pancreatic cancer screening in those w/family history of pancreatic cancer w/alternating EUS/or MRI/MRCP annually. Limited data exist to advocate for surveillance for urothelial cancers in Lynch syndrome. Surveillance may be considered in individuals with a family history of urothelial cancer. […] Upper gastrointestinal endoscopy has recently been recommended for surveillance in individuals with Lynch syndrome. However, this has not yet been included in surveillance guidelines for all individuals with Lynch syndrome, rather only in individuals with specific risk factors.

• #39 Lynch Syndrome | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/lynch-syndrome

  If you tested positive for Lynch syndrome, but do not have a cancer diagnosis, or your doctor suspects that you have Lynch syndrome, the following cancer screening plan may be recommended. […] Colonoscopy every one to two years, starting at the age of 20 to 25 years (age 30 years in families with a certain mutation known as MSH6) or 10 years younger than the youngest age at diagnosis in the family, whichever comes first. […] While there is no established screening for endometrial cancer at this time, given the high risk of developing the disease in women with Lynch syndrome, the following may be recommended: Endometrial biopsy every year beginning at age 30 to 35. […] Surgery may be recommended to patients with colorectal cancer who test positive for Lynch syndrome in order to prevent additional cancer. For instance, if you have colorectal cancer and test positive for Lynch syndrome, it may be recommended to remove the majority of your colon at the time of your surgery for colon cancer, which would reduce your risk of developing another primary colorectal cancer tumor from 40 percent to 1 percent.

• #40 Table 8. [Recommended Surveillance for Individuals with Lynch Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1211/table/hnpcc.T.recommended_surveillance_for_ind/

  Recommended Surveillance for Individuals with Lynch Syndrome. Colonoscopy w/removal of precancerous polyps every 1-2 yrs beginning between ages 20-25 yrs or 2-5 yrs before earliest CRC diagnosis in the family, whichever is earlier. Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding). Annually consider transvaginal ultrasound exam endometrial biopsy every 1-2 yrs. Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, abdominal girth, difficulty eating, early satiety, urinary frequency or urgency). Annually. Consider upper endoscopy exam esp for those w/family history of gastric cancer those of Asian ancestry every 3-5 yrs beginning between ages 30-35 yrs. Consider urine analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. Annually beginning between ages 30-35 yrs. Consider pancreatic cancer screening in those w/family history of pancreatic cancer w/alternating EUS/or MRI/MRCP annually. Limited data exist to advocate for surveillance for urothelial cancers in Lynch syndrome. Surveillance may be considered in individuals with a family history of urothelial cancer. […] Upper gastrointestinal endoscopy has recently been recommended for surveillance in individuals with Lynch syndrome. However, this has not yet been included in surveillance guidelines for all individuals with Lynch syndrome, rather only in individuals with specific risk factors.

• #41 Table 8. [Recommended Surveillance for Individuals with Lynch Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1211/table/hnpcc.T.recommended_surveillance_for_ind/

  Recommended Surveillance for Individuals with Lynch Syndrome. Colonoscopy w/removal of precancerous polyps every 1-2 yrs beginning between ages 20-25 yrs or 2-5 yrs before earliest CRC diagnosis in the family, whichever is earlier. Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding). Annually consider transvaginal ultrasound exam endometrial biopsy every 1-2 yrs. Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, abdominal girth, difficulty eating, early satiety, urinary frequency or urgency). Annually. Consider upper endoscopy exam esp for those w/family history of gastric cancer those of Asian ancestry every 3-5 yrs beginning between ages 30-35 yrs. Consider urine analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. Annually beginning between ages 30-35 yrs. Consider pancreatic cancer screening in those w/family history of pancreatic cancer w/alternating EUS/or MRI/MRCP annually. Limited data exist to advocate for surveillance for urothelial cancers in Lynch syndrome. Surveillance may be considered in individuals with a family history of urothelial cancer. […] Upper gastrointestinal endoscopy has recently been recommended for surveillance in individuals with Lynch syndrome. However, this has not yet been included in surveillance guidelines for all individuals with Lynch syndrome, rather only in individuals with specific risk factors.

• #42 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Patients with LS have an accelerated pathway to carcinogenesis compared with the general population. […] In 2016, a multisociety meeting recommended the development of a quality-assured surveillance programme for people with LS, and from April 2023, the national screening programme in England will deliver this surveillance. […] The gene-specific risk of developing upper GI malignancy ranges from 1% to 13%, but is highest in MLH1 and MSH2 gene carriers. […] Lifetime risk of endometrial cancer is between 20% and 70% for MLH1, MSH2, MSH6 variant carriers, and 10% and 15% for PMS2 variant carriers, with a lesser but nevertheless increased risk of ovarian cancer. […] In 2019, the BSG guidelines recommended that aspirin be offered to people with LS, and in 2020, NICE made the same recommendation, producing a decision aid to help patients understand the benefits of aspirin in the context of a diagnosis of LS. […] Overall, in recognition and identification of patients and families at risk of LS, diagnosis and intervention will help to work towards reduction in cancer burden in these patients.

• #43 Table 8. [Recommended Surveillance for Individuals with Lynch Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1211/table/hnpcc.T.recommended_surveillance_for_ind/

  Recommended Surveillance for Individuals with Lynch Syndrome. Colonoscopy w/removal of precancerous polyps every 1-2 yrs beginning between ages 20-25 yrs or 2-5 yrs before earliest CRC diagnosis in the family, whichever is earlier. Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding). Annually consider transvaginal ultrasound exam endometrial biopsy every 1-2 yrs. Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, abdominal girth, difficulty eating, early satiety, urinary frequency or urgency). Annually. Consider upper endoscopy exam esp for those w/family history of gastric cancer those of Asian ancestry every 3-5 yrs beginning between ages 30-35 yrs. Consider urine analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. Annually beginning between ages 30-35 yrs. Consider pancreatic cancer screening in those w/family history of pancreatic cancer w/alternating EUS/or MRI/MRCP annually. Limited data exist to advocate for surveillance for urothelial cancers in Lynch syndrome. Surveillance may be considered in individuals with a family history of urothelial cancer. […] Upper gastrointestinal endoscopy has recently been recommended for surveillance in individuals with Lynch syndrome. However, this has not yet been included in surveillance guidelines for all individuals with Lynch syndrome, rather only in individuals with specific risk factors.

• #44 Table 8. [Recommended Surveillance for Individuals with Lynch Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1211/table/hnpcc.T.recommended_surveillance_for_ind/

  Recommended Surveillance for Individuals with Lynch Syndrome. Colonoscopy w/removal of precancerous polyps every 1-2 yrs beginning between ages 20-25 yrs or 2-5 yrs before earliest CRC diagnosis in the family, whichever is earlier. Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding). Annually consider transvaginal ultrasound exam endometrial biopsy every 1-2 yrs. Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, abdominal girth, difficulty eating, early satiety, urinary frequency or urgency). Annually. Consider upper endoscopy exam esp for those w/family history of gastric cancer those of Asian ancestry every 3-5 yrs beginning between ages 30-35 yrs. Consider urine analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. Annually beginning between ages 30-35 yrs. Consider pancreatic cancer screening in those w/family history of pancreatic cancer w/alternating EUS/or MRI/MRCP annually. Limited data exist to advocate for surveillance for urothelial cancers in Lynch syndrome. Surveillance may be considered in individuals with a family history of urothelial cancer. […] Upper gastrointestinal endoscopy has recently been recommended for surveillance in individuals with Lynch syndrome. However, this has not yet been included in surveillance guidelines for all individuals with Lynch syndrome, rather only in individuals with specific risk factors.

• #45 How Do I Survey Patients with Lynch Syndrome? – American Urological Association

  https://auanews.net/issues/articles/2021/april-2021/how-do-i-survey-patients-with-lynch-syndrome

  LS patients have germline inheritable mutations of mismatch repair genes, leading to high rates of DNA alterations predisposing to a variety of cancers, primarily colorectal, endometrial and upper tract urothelial cancer (UTUC), and to a lesser extent bladder, prostate, kidney and adrenal cortical cancers. […] Very few primary data and few opinion articles are available to guide urological screening of LS patients, treatment of LS-related urological cancers, prevention or surveillance of LS-related cancer after treatment. This article will focus on surveillance of patients with known LS. […] In 2010, Acher et al proposed a risk-stratified strategy, whereby low risk patients (no personal/family history of UTUC or MSH2 mutation) undergo annual urinalysis, voided cytology and NMP-22 assay; intermediate risk patients (family history of urothelial cancer or MSH2 mutation) undergo the 3 urinary tests above plus a renal ultrasound; and high risk patients (personal history of UTUC) have in addition contrast CT and flexible cystoscopy.

• #46 Table 8. [Recommended Surveillance for Individuals with Lynch Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1211/table/hnpcc.T.recommended_surveillance_for_ind/

  Recommended Surveillance for Individuals with Lynch Syndrome. Colonoscopy w/removal of precancerous polyps every 1-2 yrs beginning between ages 20-25 yrs or 2-5 yrs before earliest CRC diagnosis in the family, whichever is earlier. Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding). Annually consider transvaginal ultrasound exam endometrial biopsy every 1-2 yrs. Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, abdominal girth, difficulty eating, early satiety, urinary frequency or urgency). Annually. Consider upper endoscopy exam esp for those w/family history of gastric cancer those of Asian ancestry every 3-5 yrs beginning between ages 30-35 yrs. Consider urine analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. Annually beginning between ages 30-35 yrs. Consider pancreatic cancer screening in those w/family history of pancreatic cancer w/alternating EUS/or MRI/MRCP annually. Limited data exist to advocate for surveillance for urothelial cancers in Lynch syndrome. Surveillance may be considered in individuals with a family history of urothelial cancer. […] Upper gastrointestinal endoscopy has recently been recommended for surveillance in individuals with Lynch syndrome. However, this has not yet been included in surveillance guidelines for all individuals with Lynch syndrome, rather only in individuals with specific risk factors.

• #47 Lynch syndrome: 10 things to know about this genetic condition | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/qa-understanding-and-managing-lynch-syndrome.h00-158589789.html

  We also recommend that all Lynch syndrome carriers get urine cytology screenings to rule out bladder cancer, and schedule a consultation with a dermatologist to get a baseline skin check and establish a follow-up routine. […] Lynch syndrome carriers can live healthy and productive lives. Its not written in stone that youre going to have cancer, just because you have Lynch syndrome. Carriers must see their health care providers regularly for proper surveillance.

• #48 Lynch syndrome — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/lynch-syndrome/

  Screening for extracolonic cancers has not been shown to be effective, and is not recommended outside of research studies. […] The role of prostate cancer screening with prostate specific antigen (PSA) and MRI in male individuals with Lynch syndrome is uncertain, but recent evidence from the IMPACT study supports the role of targeted PSA screening in men or transgender/non-binary individuals with prostates who carry likely pathogenic or pathogenic variants in MSH2 or MSH6.

• #49 Lynch syndrome: 10 things to know about this genetic condition | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/qa-understanding-and-managing-lynch-syndrome.h00-158589789.html

  Lynch syndrome is a genetic condition that makes some people more likely to develop certain cancers. […] Historically, Lynch syndrome has been considered a rare genetic condition. But today, there are around 1 million carriers of Lynch syndrome in the United States alone. And 1 million is a lot. So, its not actually that rare. […] Among the general population, about 1 in 279 people has Lynch syndrome. […] The lifetime risk of developing colorectal cancer in the general population is about 5%. Among Lynch syndrome carriers, though, it jumps to between 40% and 80%. […] Women also have a 40% to 60% chance of developing endometrial cancer. […] The risks for each mutation are different, so approaches vary. Generally speaking, though, carriers of the MLH1 or MSH2 mutations have higher risks than people carrying the MSH6 or PMS2 mutations.

• #50 Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database | Gut

  https://gut.bmj.com/content/66/3/464

  Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance. […] Colonoscopy enables the identification and removal of preinvasive neoplasia or early cancers in the absence of symptoms, and is the mainstay of secondary prevention in LS patients. […] This first report focuses on the cumulative incidence of first cancers and associated survival. […] The cumulative incidence of any cancer at age 70 years is high for all MMR gene mutation carriers, and slightly higher for females (75%) than males (58%). The cumulative incidences were 72% for MLH1 and MSH2 mutation carriers but lower in MSH6 (52%) and PMS2 (18%) mutation carriers.

• #51 Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium | Hereditary Cancer in Clinical Practice | Full Text

  https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-022-00241-1

  To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. […] CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. […] In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%.

• #52 Lynch Syndrome | Genetics and Hereditary Cancers | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/genetics-and-hereditary-cancers/lynch-syndrome/

  Lynch syndrome is an inherited cancer risk condition that increases a persons chances of developing multiple types of cancer. It is caused by mutations, or breaks, of the MLH1, MSH2, MSH6, PMS2, or EPCAM genes, which support the ability of the cells DNA (genetic code) to repair itself and protect against cancer. […] People with Lynch syndrome often develop cancer as early as in their 20s and throughout their lifetime. Their children have a 50% chance of inheriting Lynch syndrome. […] UT Southwesterns Genetic Cancer Prevention Clinic (GCPC) can help ensure people are receiving appropriate cancer surveillance and management based on their genetic testing results. […] Lynch syndrome is the most common type of hereditary colon cancer and accounts for 2-4% of all colon cancers. […] People with Lynch syndrome due to a P/LP variant in the MLH1 gene have up to a 65% risk of developing colorectal cancer throughout their lifetime.

• #53 Lynch Syndrome | Genetics and Hereditary Cancers | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/genetics-and-hereditary-cancers/lynch-syndrome/

  Females have up to a 55% risk for uterine cancer and up to a 20% risk for ovarian cancer. […] Males and females with Lynch syndrome also have an increased risk for other types of cancer, including stomach, small bowel, pancreatic, urothelial, bladder, prostate, and brain cancers. These cancers tend to occur at a younger age. […] Our gastroenterology specialists work with patients to establish a personalized colon cancer surveillance plan. […] Our specialists follow National Comprehensive Cancer Network (NCCN) recommendations, including: Colonoscopy every one to two years, starting at age 20-25. […] P/LP variants in the MLH1 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with an MLH1 variant have a 1 in 2 (50%) chance of having the variant as well.

• #54 Lynch Syndrome | Genetics and Hereditary Cancers | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/genetics-and-hereditary-cancers/lynch-syndrome/

  Lynch syndrome is caused by pathogenic/likely pathogenic (P/LP) variants in one of five different genes, including MSH2. […] People with Lynch syndrome due to a P/LP variant in MSH2 have up to a 55% risk of developing colorectal cancer in their lifetime. […] Females have up to a 60% risk for uterine cancer and up to a 40% risk for ovarian cancer. […] Males and females with an MSH2 P/LP variant also have an increased risk for other types of cancer, such as stomach cancer, bladder cancer, urothelial cancer, and small bowel cancer. These cancers tend to occur at a younger age. […] P/LP variants in the MSH2 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a MSH2 mutation have a 1 in 2 (50%) chance of having the mutation as well.

• #55 Lynch Syndrome | Genetics and Hereditary Cancers | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/genetics-and-hereditary-cancers/lynch-syndrome/

  People with Lynch syndrome due to a P/LP variant in the MSH6 gene have up to a 45% risk of developing colorectal cancer in their lifetime. […] Females have up to a 50% risk for uterine cancer and up to a 13% risk for ovarian cancer. […] Males and females with an MSH6 variant may also have an increased risk for other types of cancer, including stomach, small bowel, urothelial, and bladder cancer. These cancers tend to occur at a younger age. […] P/LP variants in the MSH6 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with an MSH6 mutation have a 1 in 2 (50%) chance of having the mutation as well. […] People with Lynch syndrome due to a P/LP variant in the PMS2 gene have up to a 20% risk of developing colon cancer.

• #56 Lynch Syndrome | Genetics and Hereditary Cancers | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/genetics-and-hereditary-cancers/lynch-syndrome/

  Females have up to a 30% risk for uterine cancer and an increased risk for ovarian cancer. […] Men and women with Lynch syndrome also have an increased risk for other types of cancer, including stomach, small bowel, pancreatic, urothelial, bladder, prostate, and brain cancer. These cancers tend to occur at a younger age. […] P/LP variants in the PMS2 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with an PMS2 P/LP variant have a 1 in 2 (50%) chance of having the variant as well. […] Lynch syndrome is the most common type of hereditary colon cancer, meaning the risk can be passed down from parents to their children. […] People with Lynch syndrome due to a pathogenic/likely pathogenic (P/LP) variant in the EPCAM gene have up to a 55% risk of developing colorectal cancer in their lifetime.

• #57 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Lynch syndrome (LS) is present in about 1 in 400 people in the UK, it estimated that only 5% of people with this condition are aware of the diagnosis. […] Therefore, testing for LS in all new diagnoses of colorectal or endometrial cancers is now recommended in the UK, and gastroenterologists can offer mainstreamed genetic testing for LS to patients with cancer. […] Patients diagnosed with LS require lifelong coordinated multidisciplinary care, where the application of interventions provides many opportunities to reduce cancer risk. […] Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers. […] The cumulative lifetime incidence of CRC in people with LS (MLH1 45%, MSH2 35%, MSH6 20% PMS2 14%) is considerably higher than in the general population.

• #58 Dr Kevin Monahan and Lynch syndrome surveillance | Bowel Cancer UK

  https://www.bowelcanceruk.org.uk/news-and-blogs/research-blog/dr-kevin-monahan-explains-the-importance-of-lynch-syndrome-surveillance-in-the-nhs-england-screening-programme/

  Dr Kevin Monahan explains the importance of providing Lynch syndrome surveillance through the NHS England Screening Programme. Earlier today, NHS England announced that Lynch syndrome surveillance is now being offered as part of the NHS England Bowel Cancer Screening Programme. People with Lynch syndrome, in England, will now receive invites automatically every two years for high-quality surveillance colonoscopies. Although there are about 175,000-200,000 people with Lynch syndrome in England alone, it’s estimated that only 5% of people with Lynch syndrome have been diagnosed in the UK. National guidance recommends a colonoscopy every two years for people diagnosed with Lynch syndrome. A national survey found that many clinicians agreed that colonoscopic screening and surveillance for people with Lynch syndrome was inadequate. A well-structured and quality-assured colonoscopic surveillance programme run at a national level has the potential to greatly improve patient outcomes, especially for those at highest risk, by detecting bowel cancer early and reducing the postcode lottery of care. The new national Lynch syndrome colonoscopy programme will be delivered by the national Bowel Cancer Screening Programme. It’s estimated 300 lives could be saved every year if diagnosis and optimal care for Lynch syndrome are offered in England. The change to the surveillance programme will ensure: you’re invited for colonoscopic surveillance, on time, every two years; you’re seen by a specialist team and have a high-quality test performed by an expert colonoscopist; a consistent approach across England with equal access for people with Lynch syndrome. The implementation of this new colonoscopic surveillance programme will have far-reaching impacts, increasing awareness of Lynch syndrome and ensuring clinical teams will develop a new sense of responsibility for the lifelong care of patients with Lynch. With the combined efforts of the new programme and the National Transformation Project, we’re hopeful that more people with Lynch syndrome will be identified and provided nationwide access to the quality care that they need.

• #59 New bowel cancer screening launches for Lynch syndrome patients – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/blog/new-bowel-cancer-screening-launches-for-lynch-syndrome-patients/

  A new NHS testing programme for bowel cancer has been launched for people with Lynch Syndrome, following an initiative to increase genomic testing for the condition. […] The national programme is part of the wider NHS Bowel Cancer Screening Programme and is designed to make taking part as easy as possible, with colonoscopies offered at local screening centres and with specially trained staff. […] Around 10,000 people with Lynch syndrome will start receiving invitations to take part this year. […] Incorporating people with Lynch syndrome into the national colonoscopy screening programme is game-changing and will save many lives each year. […] It will deliver prevention and early diagnosis of bowel cancer through timely and high-quality colonoscopy. […] As part of the NHS Long Term Plan is to diagnose 75% of cancers at an early stage by 2028, there have been efforts to identify more people with Lynch syndrome and help reduce the risk of them getting cancer.

• #60

  https://www.cancervic.org.au/cancer-information/genetics-and-risk/lynch-syndrome

  Lynch syndrome is believed to be Australia’s most common inherited cancer risk, with one in 280 Australians believed to carry the mismatch repair gene deficiency. […] However, only 5% of Australians with Lynch syndrome have been diagnosed. […] Today, all colorectal and endometrial cancers should be tested for the signature mismatch repair deficiency which alerts us to the possibility of Lynch Syndrome. […] Once you have been diagnosed with Lynch syndrome it is important to develop a surveillance plan. This outlines the routine tests you should have, identifying what these tests are and how often they should be performed. […] The surveillance plan for most families will follow the standard National guidelines. In Australia, the current guidelines recommend two specific things: Annual colonoscopy is recommended from age 25 (MLH1 or MSH2 gene variant) or age 30 (MSH6 or PMS2 gene variant), or 5 years younger than youngest colorectal cancer affected relative.

• #61

  https://www.cancervic.org.au/cancer-information/genetics-and-risk/lynch-syndrome

  Prophylactic total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) to be considered after childbearing is complete or by 40 years of age for those with MLH1, MSH2 or MSH6 gene carriage. […] Lynch syndrome cancers may be more aggressive and often occur at an earlier age than in the general population. It is therefore essential for individuals with Lynch syndrome to follow a targeted surveillance regime. […] Most Familial Cancer Clinics have associated Risk Management Services which help keep track of, and arrange, surveillance procedures when needed according to guidelines. […] General practitioners and practice nurses can play a key part in assisting patients with Lynch syndrome to co-ordinate their surveillance regime.

• #62 New bowel cancer screening launches for Lynch syndrome patients – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/blog/new-bowel-cancer-screening-launches-for-lynch-syndrome-patients/

  To support this aim, in April 2023, the NHS began rolling out a programme to offer genomic testing for Lynch syndrome to every person diagnosed with bowel or endometrial cancer. […] The new bowel cancer screening programme will offer a colonoscopy to people with Lynch syndrome every two years. […] Offering people with Lynch syndrome regular colonoscopies will allow precancerous cell changes to be identified and treated before cancer develops, as well as diagnosing cancers that do arise at the earliest possible stages, when treatment outcomes are best. […] We are also ensuring that patients diagnosed with Lynch syndrome are then guaranteed to get the high-quality surveillance colonoscopy they need from the national screening programme.

• #63

  https://www.cancervic.org.au/cancer-information/genetics-and-risk/lynch-syndrome

  Prophylactic total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) to be considered after childbearing is complete or by 40 years of age for those with MLH1, MSH2 or MSH6 gene carriage. […] Lynch syndrome cancers may be more aggressive and often occur at an earlier age than in the general population. It is therefore essential for individuals with Lynch syndrome to follow a targeted surveillance regime. […] Most Familial Cancer Clinics have associated Risk Management Services which help keep track of, and arrange, surveillance procedures when needed according to guidelines. […] General practitioners and practice nurses can play a key part in assisting patients with Lynch syndrome to co-ordinate their surveillance regime.

• #64 Urology & Continence Care Today | May 2025

  https://www.ucc-today.com/journals/issue/launch-edition/article/lynch-syndrome-following-leads-save-lives-ucct

  Lynch syndrome is an inherited genetic condition and there could be over 175,000 people in the UK. About half of all people with Lynch syndrome develop colorectal cancer and it is also responsible for other cancers, including endometrial, gastric, small bowel, urothelial and brain cancers. […] Research shows that there could be over 175,000 people in the UK with the genetic condition Lynch syndrome (National Institute for Health and Care [NICE], 2016). […] Those leads are largely found in two ways. First, through testing those with bowel cancer to see if they have Lynch syndrome so that their relatives can be tested to see if they have also inherited the condition, this is done in secondary care. The second way is through identifying individuals with what are termed high risk family histories so that they can be tested for Lynch syndrome. This can be achieved in primary or secondary care.

• #65 Lynch Syndrome | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/lynch-syndrome

  If you have a family history of cancer, it is extremely important that you let your doctor know. Your doctor will then take a thorough recording of your family history, paying particular attention to cancer diagnoses. If your doctor suspects that you may have Lynch syndrome, they will refer you to a health care professional who specializes in genetic cancer screening, testing and counseling. […] In addition, all newly diagnosed colorectal cancer or endometrial cancer patients also should be screened or tested for Lynch syndrome. […] Based on established medical criteria, the following people should be screened or tested for Lynch syndrome: Newly diagnosed colorectal or endometrial cancer patients. […] Patients diagnosed with more than one Lynch syndrome-related cancers. […] Patients with a family history of colorectal or endometrial cancer.

• #66

  https://www.cancervic.org.au/cancer-information/genetics-and-risk/lynch-syndrome

  Prophylactic total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) to be considered after childbearing is complete or by 40 years of age for those with MLH1, MSH2 or MSH6 gene carriage. […] Lynch syndrome cancers may be more aggressive and often occur at an earlier age than in the general population. It is therefore essential for individuals with Lynch syndrome to follow a targeted surveillance regime. […] Most Familial Cancer Clinics have associated Risk Management Services which help keep track of, and arrange, surveillance procedures when needed according to guidelines. […] General practitioners and practice nurses can play a key part in assisting patients with Lynch syndrome to co-ordinate their surveillance regime.

• #67 Table 8. [Recommended Surveillance for Individuals with Lynch Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1211/table/hnpcc.T.recommended_surveillance_for_ind/

  Recommended Surveillance for Individuals with Lynch Syndrome. Colonoscopy w/removal of precancerous polyps every 1-2 yrs beginning between ages 20-25 yrs or 2-5 yrs before earliest CRC diagnosis in the family, whichever is earlier. Educate females re symptoms of endometrial cancers (e.g., abnormal uterine bleeding, postmenopausal bleeding). Annually consider transvaginal ultrasound exam endometrial biopsy every 1-2 yrs. Educate females re symptoms assoc w/ovarian cancer (e.g., pelvic or abdominal pain, bloating, abdominal girth, difficulty eating, early satiety, urinary frequency or urgency). Annually. Consider upper endoscopy exam esp for those w/family history of gastric cancer those of Asian ancestry every 3-5 yrs beginning between ages 30-35 yrs. Consider urine analysis w/urine cytology to identify microscopic hematuria in those w/family history of urothelial cancer. Annually beginning between ages 30-35 yrs. Consider pancreatic cancer screening in those w/family history of pancreatic cancer w/alternating EUS/or MRI/MRCP annually. Limited data exist to advocate for surveillance for urothelial cancers in Lynch syndrome. Surveillance may be considered in individuals with a family history of urothelial cancer. […] Upper gastrointestinal endoscopy has recently been recommended for surveillance in individuals with Lynch syndrome. However, this has not yet been included in surveillance guidelines for all individuals with Lynch syndrome, rather only in individuals with specific risk factors.

• #68

  https://www.cancervic.org.au/cancer-information/genetics-and-risk/lynch-syndrome

  Prophylactic total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) to be considered after childbearing is complete or by 40 years of age for those with MLH1, MSH2 or MSH6 gene carriage. […] Lynch syndrome cancers may be more aggressive and often occur at an earlier age than in the general population. It is therefore essential for individuals with Lynch syndrome to follow a targeted surveillance regime. […] Most Familial Cancer Clinics have associated Risk Management Services which help keep track of, and arrange, surveillance procedures when needed according to guidelines. […] General practitioners and practice nurses can play a key part in assisting patients with Lynch syndrome to co-ordinate their surveillance regime.

• #69 Diagnosing Lynch Syndrome – Irish Medical Journal

  https://imj.ie/diagnosing-lynch-syndrome/

  Once initiated, whether due to clinical suspicion of LS or universal IHC testing, the diagnostic pathway must be pursued to completion. […] Ireland must develop a national infrastructure for the management of this and other molecular testing. […] With regards individual patient surveillance, colon surveillance with full colonoscopy is vital in LS patients and has been proven to significantly reduce the cumulative risk of CRC-associated mortality. […] The National Comprehensive Cancer Network (NCCN) recommends colonoscopy be carried out between the ages of 20 and 25 and then every 1-2 years in LS, or 2-5 years prior to the earliest onset of colon cancer if previously diagnosed before 25. […] In women with LS, endometrium and ovary screening is also important as they have a lifetime risk of 40-60% for endometrial cancer and 12-15% for ovarian cancer. […] Prophylactic hysterectomy and bilateral salpingo-oophorectomy when childbearing is completed should be considered, as it significantly reduces the risk of these cancers. […] Lynch Syndrome is underdiagnosed in Ireland. […] Identification of genetic predisposition to Lynch syndrome associated malignancies in a healthy population offers a powerful cancer prevention opportunity.

• #70 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Patients with LS have an accelerated pathway to carcinogenesis compared with the general population. […] In 2016, a multisociety meeting recommended the development of a quality-assured surveillance programme for people with LS, and from April 2023, the national screening programme in England will deliver this surveillance. […] The gene-specific risk of developing upper GI malignancy ranges from 1% to 13%, but is highest in MLH1 and MSH2 gene carriers. […] Lifetime risk of endometrial cancer is between 20% and 70% for MLH1, MSH2, MSH6 variant carriers, and 10% and 15% for PMS2 variant carriers, with a lesser but nevertheless increased risk of ovarian cancer. […] In 2019, the BSG guidelines recommended that aspirin be offered to people with LS, and in 2020, NICE made the same recommendation, producing a decision aid to help patients understand the benefits of aspirin in the context of a diagnosis of LS. […] Overall, in recognition and identification of patients and families at risk of LS, diagnosis and intervention will help to work towards reduction in cancer burden in these patients.

• #71 MMR genes (Lynch syndrome) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/1410-mmr-genes-lynch-syndrome-risk-management

  Lynch syndrome is an autosomal dominant condition caused by germline pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 or from deletions in the 3′ end of the EPCAM gene affecting MSH2 function. […] The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised. […] The choice of risk management strategy should take into account current age, other health issues and age-related cancer risk. Risks and benefits of interventions should be discussed with an experienced medical professional. […] The impact of lifestyle on cancer risk should be discussed e.g. exercise most days for at least 30 minutes at moderate or strenuous intensity, maintain a healthy weight, have a healthy diet, limit alcohol intake, do not smoke and avoid excessive sun exposure.

• #72 Impact of population screening for Lynch syndrome insights from the All of Us data | Nature Communications

  https://www.nature.com/articles/s41467-024-52562-5

  Population screening for LS, regardless of personal or family cancer history, offers a promising approach for the prevention and/or early detection of multiple cancers through intensive screening and the implementation of risk-reducing strategies, including prophylactic surgeries, chemoprevention, and the prospect of immunoprevention with vaccine trials currently underway. […] Our goal was to assess the prevalence and clinical manifestations of LS in a subset of the general population enrolled in the AOU Research Initiative. […] These results support population-based germline genetic testing as a potential strategy to identify individuals with LS, particularly those unaffected by cancer. […] Our findings however underscore the significance of family history in assessing cancer risk among LS carriers, which currently impact recommendations for more personalized LS cancer screening and other risk reducing interventions.

• #73 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Lynch syndrome (LS) is present in about 1 in 400 people in the UK, it estimated that only 5% of people with this condition are aware of the diagnosis. […] Therefore, testing for LS in all new diagnoses of colorectal or endometrial cancers is now recommended in the UK, and gastroenterologists can offer mainstreamed genetic testing for LS to patients with cancer. […] Patients diagnosed with LS require lifelong coordinated multidisciplinary care, where the application of interventions provides many opportunities to reduce cancer risk. […] Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers. […] The cumulative lifetime incidence of CRC in people with LS (MLH1 45%, MSH2 35%, MSH6 20% PMS2 14%) is considerably higher than in the general population.

• #74 Urology & Continence Care Today | May 2025

  https://www.ucc-today.com/journals/issue/launch-edition/article/lynch-syndrome-following-leads-save-lives-ucct

  Lynch syndrome is estimated to cause over 1,100 cases of bowel cancer in the UK, with many of them occurring in those under the age of 50 (NHS England, 2021). […] At present, the number of patients being tested for Lynch syndrome at point of colorectal cancer diagnosis varies greatly from trust to trust (NHS England, 2021). […] It is important that people with Lynch syndrome have regular colonoscopies. This can reduce the risk of cancer by removing polyps before they can change from adenomas (benign polyps) to cancers. […] UK guidelines for those with proven Lynch syndrome recommend colonoscopy surveillance every two years (Edwards and Monahan, 2022). […] Following a clinical consensus meeting facilitated by Bowel Cancer UK, there is now a move for the national bowel cancer screening programme to deliver the Lynch surveillance programme so that patients can receive the same high quality screening programme as the eligible asymptomatic population (Bowel Cancer UK, 2022).

• #75 Lynch syndrome — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/lynch-syndrome/

  Screening for extracolonic cancers has not been shown to be effective, and is not recommended outside of research studies. […] The role of prostate cancer screening with prostate specific antigen (PSA) and MRI in male individuals with Lynch syndrome is uncertain, but recent evidence from the IMPACT study supports the role of targeted PSA screening in men or transgender/non-binary individuals with prostates who carry likely pathogenic or pathogenic variants in MSH2 or MSH6.

• #76 National Lynch Syndrome Project – SWAG Cancer Alliance

  https://www.swagcanceralliance.nhs.uk/national-lynch-syndrome-project/

  Gynaecological surveillance: Currently there is limited evidence to support gynaecological surveillance for the early detection of gynaecological cancer in Lynch syndrome. […] The Cancer Alliance has written out to all Colorectal Endometrial Cancer MDTs asking them to nominate a Lynch Lead. […] Establish a regional Lynch network to support and develop the delivery of a cross-system service. […] Develop regional expert centres who will be able to provide clinical advice and training to dedicated local leads within cancer MDTs and manage regional patient registries.

• #77 Frontiers | Lynch syndrome: from detection to treatment

  https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1166238/full

  Lynch syndrome (LS) is an inherited cancer predisposition syndrome associated with high lifetime risk of developing tumours, most notably colorectal and endometrial. […] LS remains underdiagnosed in the population despite national recommendations for empirical testing in all new colorectal and endometrial cancer cases. […] There are now well-established colorectal cancer surveillance programmes, but the high rate of interval cancers identified, coupled with a paucity of high-quality evidence for extra-colonic cancer surveillance, means there is still much that can be achieved in diagnosis, risk-stratification and management. […] A prototypical cancer surveillance programme using colonoscopy exists for CRC in the setting of LS, but quality data on the role of surveillance for other LS-associated tumours is limited.

• #78 Frontiers | Lynch syndrome: from detection to treatment

  https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1166238/full

  Current consensus favours colonoscopy for CRC surveillance in asymptomatic patients with LS. […] The optimal strategy for CRC surveillance in LS remains the subject of ongoing research. […] Recommendations for the surveillance of LS-associated extra-colonic cancers vary. […] Unlike CRCs, for which standardized mortality ratios have been reported to decrease over time in LS cohorts, risk of death from LS-associated extra-colonic tumours is significantly increased compared with the general population.

• #79 Lynch Syndrome: Reducing the Risk of Cancer with Genetic Precision – Advances for Medical Professionals | NewYork-Presbyterian

  https://www.nyp.org/publications/professional-advances/gastro/lynch-syndrome-reducing-the-risk-of-cancer

  The early identification of individuals with Lynch syndrome and their at-risk family members is crucial for the implementation of effective cancer prevention strategies. […] At Weill Cornell Medicine a study is currently underway to investigate gene-dependent management of risk in Lynch syndrome and how to best manage and screen people based on their individual genetic mutations. […] The current goal of gastrointestinal genetic specialists is to increase awareness and genetic testing among at-risk first-degree relatives, as well as extended family, as the gene associated with Lynch syndrome is inherited in an autosomal dominant pattern from one generation to the next. […] The most important message to patients with an inherited cancer syndrome is ensuring that they understand their heightened cancer risk, says Dr. Schnoll-Sussman.

• #80 Lynch Syndrome Integrative Epidemiology and Genetics | Clinical Research Trial Listing

  https://www.centerwatch.com/clinical-trials/listings/NCT06582914/lynch-syndrome-integrative-epidemiology-and-genetics

  The mission of the LINEAGE Consortium is to collaboratively improve Lynch syndrome care through high-quality research. […] Our aims are to: II. Collect standardized longitudinal clinical and biosample data to elucidate Lynch Syndrome epidemiology and gene-host interactions III. Promote intervention trials to improve cancer prevention and early detection in Lynch Syndrome. […] The main objective of this consortium is to build a shared resource to drive research in critical areas necessary to understand LS-related neoplasia risk and improve early detection and prevention of LS-associated cancers. […] Data and samples collected for LINEAGE will allow the consortium to address a variety of topic areas including but not limited to: I. Risk of prevalent and incident colorectal neoplasia among PV/LPV carriers. II. Estimate risk of prevalent and incident extra-colonic neoplasm among PV/LPV carriers. III. Characterization of post-colonoscopy colorectal cancer among PV/LPV carriers. IV. Risk factors for prevalent and incident neoplasia.

• #81 Lynch Syndrome: Reducing the Risk of Cancer with Genetic Precision

  https://www.nyp.org/newsletters/prof-adv/gastro/lynch-syndrome-reducing-the-risk-of-cancer-with-genetic-precision

  Surveillance colonoscopy exams to identify polyps have been shown to decrease incidence and mortality for colorectal cancer in this patient population. […] The early identification of individuals with Lynch syndrome and their at-risk family members is crucial for the implementation of effective cancer prevention strategies. […] At Weill Cornell Medicine a study is currently underway to investigate gene-dependent management of risk in Lynch syndrome and how to best manage and screen people based on their individual genetic mutations. […] The current goal of gastrointestinal genetic specialists is to increase awareness and genetic testing among at-risk first-degree relatives, as well as extended family, as the gene associated with Lynch syndrome is inherited in an autosomal dominant pattern from one generation to the next.

• #82 Diagnosis and management of Lynch syndrome | Frontline Gastroenterology

  https://fg.bmj.com/content/13/e1/e80

  Lynch syndrome (LS) is present in about 1 in 400 people in the UK, it estimated that only 5% of people with this condition are aware of the diagnosis. […] Therefore, testing for LS in all new diagnoses of colorectal or endometrial cancers is now recommended in the UK, and gastroenterologists can offer mainstreamed genetic testing for LS to patients with cancer. […] Patients diagnosed with LS require lifelong coordinated multidisciplinary care, where the application of interventions provides many opportunities to reduce cancer risk. […] Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers. […] The cumulative lifetime incidence of CRC in people with LS (MLH1 45%, MSH2 35%, MSH6 20% PMS2 14%) is considerably higher than in the general population.

• #83

  https://www.cancervic.org.au/cancer-information/genetics-and-risk/lynch-syndrome

  Lynch syndrome is believed to be Australia’s most common inherited cancer risk, with one in 280 Australians believed to carry the mismatch repair gene deficiency. […] However, only 5% of Australians with Lynch syndrome have been diagnosed. […] Today, all colorectal and endometrial cancers should be tested for the signature mismatch repair deficiency which alerts us to the possibility of Lynch Syndrome. […] Once you have been diagnosed with Lynch syndrome it is important to develop a surveillance plan. This outlines the routine tests you should have, identifying what these tests are and how often they should be performed. […] The surveillance plan for most families will follow the standard National guidelines. In Australia, the current guidelines recommend two specific things: Annual colonoscopy is recommended from age 25 (MLH1 or MSH2 gene variant) or age 30 (MSH6 or PMS2 gene variant), or 5 years younger than youngest colorectal cancer affected relative.

• #84 Lynch Syndrome: From Multidisciplinary Management to Precision Prevention

  https://www.mdpi.com/2072-6694/16/5/849

  Endoscopy remains the gold standard method for colorectal cancer (CRC) surveillance in patients with LS. The surveillance program is tailored to the cumulative risk of CRC development in LS patients. […] Various endoscopic societies recommend starting endoscopic CRC surveillance at 25 years of age for patients with MLH1 and MSH2 mutations. […] The recommended surveillance interval for colonoscopy has now been set at 2 years by the European, Japanese, and American endoscopy societies. […] Genetic counselling is recommended for patients with a 5% risk of LS, as assessed by MMRpro and the PREMM1, 2, 6 models. […] A universal screening strategy has been increasingly adopted, which consists of testing for specific molecular features in all CRCs and endometrial cancers in order to detect the specific feature of CRC and endometrial cancer associated with LS.

• #85

  https://ibis.utah.gov/ibisph-view/indicator/view/LynchSynCAI.ColUnd50.LHD.html

  Individuals diagnosed with Lynch Syndrome should also work with health care professionals to determine family members to contact and consider Cascade Screening. […] Universal Screening involves tumor testing every newly diagnosed colorectal or endometrial cancer case for genes associated with Lynch Syndrome. This tumor testing looks for characteristics of tumor tissue that indicate a mutation in one of the genes associated with Lynch Syndrome by using microsatellite instability (MSI) and immunohistochemistry (IHC). If the tumor testing comes back positive then the person is referred on to genetic testing and germline testing. The aim of this is to identify more persons with Lynch Syndrome and thus get those persons into the proper screening schedule in order to reduce morbidity and mortality from Lynch Syndrome-related cancers.

• #86

  https://ibis.utah.gov/ibisph-view/indicator/view/LynchSynCAI.ColUnd50.LHD.html

  Individuals diagnosed with Lynch Syndrome should also work with health care professionals to determine family members to contact and consider Cascade Screening. […] Universal Screening involves tumor testing every newly diagnosed colorectal or endometrial cancer case for genes associated with Lynch Syndrome. This tumor testing looks for characteristics of tumor tissue that indicate a mutation in one of the genes associated with Lynch Syndrome by using microsatellite instability (MSI) and immunohistochemistry (IHC). If the tumor testing comes back positive then the person is referred on to genetic testing and germline testing. The aim of this is to identify more persons with Lynch Syndrome and thus get those persons into the proper screening schedule in order to reduce morbidity and mortality from Lynch Syndrome-related cancers.

• #87

  https://ibis.utah.gov/ibisph-view/indicator/view/LynchSynCAI.ColUnd50.LHD.html

  Individuals diagnosed with Lynch Syndrome should also work with health care professionals to determine family members to contact and consider Cascade Screening. […] Universal Screening involves tumor testing every newly diagnosed colorectal or endometrial cancer case for genes associated with Lynch Syndrome. This tumor testing looks for characteristics of tumor tissue that indicate a mutation in one of the genes associated with Lynch Syndrome by using microsatellite instability (MSI) and immunohistochemistry (IHC). If the tumor testing comes back positive then the person is referred on to genetic testing and germline testing. The aim of this is to identify more persons with Lynch Syndrome and thus get those persons into the proper screening schedule in order to reduce morbidity and mortality from Lynch Syndrome-related cancers.

• #88

  https://ibis.utah.gov/ibisph-view/indicator/view/LynchSynCAI.ColUnd50.LHD.html

  Individuals diagnosed with Lynch Syndrome should also work with health care professionals to determine family members to contact and consider Cascade Screening. […] Universal Screening involves tumor testing every newly diagnosed colorectal or endometrial cancer case for genes associated with Lynch Syndrome. This tumor testing looks for characteristics of tumor tissue that indicate a mutation in one of the genes associated with Lynch Syndrome by using microsatellite instability (MSI) and immunohistochemistry (IHC). If the tumor testing comes back positive then the person is referred on to genetic testing and germline testing. The aim of this is to identify more persons with Lynch Syndrome and thus get those persons into the proper screening schedule in order to reduce morbidity and mortality from Lynch Syndrome-related cancers.

• #89 Lynch Syndrome: From Multidisciplinary Management to Precision Prevention

  https://www.mdpi.com/2072-6694/16/5/849

  Endoscopy remains the gold standard method for colorectal cancer (CRC) surveillance in patients with LS. The surveillance program is tailored to the cumulative risk of CRC development in LS patients. […] Various endoscopic societies recommend starting endoscopic CRC surveillance at 25 years of age for patients with MLH1 and MSH2 mutations. […] The recommended surveillance interval for colonoscopy has now been set at 2 years by the European, Japanese, and American endoscopy societies. […] Genetic counselling is recommended for patients with a 5% risk of LS, as assessed by MMRpro and the PREMM1, 2, 6 models. […] A universal screening strategy has been increasingly adopted, which consists of testing for specific molecular features in all CRCs and endometrial cancers in order to detect the specific feature of CRC and endometrial cancer associated with LS.

• #90 Understanding Lynch Syndrome and Associated Cancer Risk: Epidemiology

  https://www.onclive.com/view/understanding-lynch-syndrome-and-associated-cancer-risk-epidemiology

  Lynch syndrome is the most commonly inherited colon cancer syndrome, and it accounts for approximately 3% of all newly diagnosed cases of colorectal cancer. However, the percent likelihood of identifying Lynch syndrome increases as the age of colon cancer diagnosis decreases. This is particularly relevant now, since the prevalence of early-onset colon cancer specifically in individuals identified and diagnosed at less than 50 years is increasing in the United States. Lynch syndrome is identified in about 10% of the patients diagnosed at less than 50 years. In those who are identified at less than 35 years, the percent likelihood of Lynch syndrome identification increases to 23%. This has been the rationale for the recommendation to offer germline genetic testing to all patients who are diagnosed before the age of 50 years.

• #91 Understanding Lynch Syndrome and Associated Cancer Risk: Epidemiology

  https://www.onclive.com/view/understanding-lynch-syndrome-and-associated-cancer-risk-epidemiology

  Lynch syndrome is the most commonly inherited colon cancer syndrome, and it accounts for approximately 3% of all newly diagnosed cases of colorectal cancer. However, the percent likelihood of identifying Lynch syndrome increases as the age of colon cancer diagnosis decreases. This is particularly relevant now, since the prevalence of early-onset colon cancer specifically in individuals identified and diagnosed at less than 50 years is increasing in the United States. Lynch syndrome is identified in about 10% of the patients diagnosed at less than 50 years. In those who are identified at less than 35 years, the percent likelihood of Lynch syndrome identification increases to 23%. This has been the rationale for the recommendation to offer germline genetic testing to all patients who are diagnosed before the age of 50 years.

• #92 The genetics and epidemiology of Lynch syndrome – VJOncology

  https://www.vjoncology.com/video/gfew8dw5tb4-the-genetics-and-epidemiology-of-lynch-syndrome/

  Heather Hampel, MS, City of Hope, Duarte, CA, gives a summary of Lynch syndrome, the most common form of inherited colorectal cancer and endometrial cancer. The condition also increases the risk of developing other cancers such as biliary and pancreatic cancer, and whilst preventable, is heavily underdiagnosed. Patients who have Lynch syndrome will have annual colonoscopies from their 20s/30s or have an elective hysterectomy. […] Tumors additionally tend to be microsatellite instability (MSI) high, which can benefit from immune checkpoint inhibitor therapy.

• #93 The genetics and epidemiology of Lynch syndrome – VJOncology

  https://www.vjoncology.com/video/gfew8dw5tb4-the-genetics-and-epidemiology-of-lynch-syndrome/

  Heather Hampel, MS, City of Hope, Duarte, CA, gives a summary of Lynch syndrome, the most common form of inherited colorectal cancer and endometrial cancer. The condition also increases the risk of developing other cancers such as biliary and pancreatic cancer, and whilst preventable, is heavily underdiagnosed. Patients who have Lynch syndrome will have annual colonoscopies from their 20s/30s or have an elective hysterectomy. […] Tumors additionally tend to be microsatellite instability (MSI) high, which can benefit from immune checkpoint inhibitor therapy.

• #94 Impact of population screening for Lynch syndrome insights from the All of Us data | Nature Communications

  https://www.nature.com/articles/s41467-024-52562-5

  Population screening for LS, regardless of personal or family cancer history, offers a promising approach for the prevention and/or early detection of multiple cancers through intensive screening and the implementation of risk-reducing strategies, including prophylactic surgeries, chemoprevention, and the prospect of immunoprevention with vaccine trials currently underway. […] Our goal was to assess the prevalence and clinical manifestations of LS in a subset of the general population enrolled in the AOU Research Initiative. […] These results support population-based germline genetic testing as a potential strategy to identify individuals with LS, particularly those unaffected by cancer. […] Our findings however underscore the significance of family history in assessing cancer risk among LS carriers, which currently impact recommendations for more personalized LS cancer screening and other risk reducing interventions.

• #95 Impact of population screening for Lynch syndrome insights from the All of Us data | Nature Communications

  https://www.nature.com/articles/s41467-024-52562-5

  Lynch Syndrome (LS) is a common genetic cancer condition that allows for personalized cancer prevention and early cancer detection in identified gene carriers. […] The results suggest that population-based germline testing for LS may identify up to 63.2% of carriers who might remain undetected due to lack of personal or family cancer history. […] LS affects about 1 in 354 individuals in this U.S. cohort, where pathogenic variants in the genes MSH6 and PMS2 account for the majority of cases. […] To optimize the identification of LS, the Centers for Disease Control (CDC) has classified LS, as well as Hereditary Breast and Ovarian Cancer syndrome (HBOC) associated with pathogenic variants in the BRCA1 and BRCA2 genes, and Familial Hypercholesterolemia (FH), as Tier 1 conditions; this classification supports genetic testing in the general population given the substantial public health impact associated with adherence to preventive and risk-reducing strategies as per existing guidelines and evidence-based recommendations.

• #96 Impact of population screening for Lynch syndrome insights from the All of Us data | Nature Communications

  https://www.nature.com/articles/s41467-024-52562-5

  Lynch Syndrome (LS) is a common genetic cancer condition that allows for personalized cancer prevention and early cancer detection in identified gene carriers. […] The results suggest that population-based germline testing for LS may identify up to 63.2% of carriers who might remain undetected due to lack of personal or family cancer history. […] LS affects about 1 in 354 individuals in this U.S. cohort, where pathogenic variants in the genes MSH6 and PMS2 account for the majority of cases. […] To optimize the identification of LS, the Centers for Disease Control (CDC) has classified LS, as well as Hereditary Breast and Ovarian Cancer syndrome (HBOC) associated with pathogenic variants in the BRCA1 and BRCA2 genes, and Familial Hypercholesterolemia (FH), as Tier 1 conditions; this classification supports genetic testing in the general population given the substantial public health impact associated with adherence to preventive and risk-reducing strategies as per existing guidelines and evidence-based recommendations.

• #97 Lynch Syndrome for the General Public

  https://dph.illinois.gov/topics-services/life-stages-populations/genomics/fact-sheets/lynch-syndrome-public.html

  The only proven ways to reduce cancer risk is frequent cancer screenings and preventative surgery when appropriate. Screening helps detect cancer in its earliest stages when it is easiest to treat. […] Depending on the family, screenings should start between ages 20 and 25 or 10 years before the earliest age of a cancer diagnosis in the family.

• #98 Cancer Incidence and Survival During Surveillance in Lynch Syndromelogo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b

  https://www.jwatch.org/na39980/2015/12/23/cancer-incidence-and-survival-during-surveillance-lynch

  Cancer Incidence and Survival During Surveillance in Lynch Syndrome. Prospective observational data show substantial cancer risks but remarkably high survival rates. In a multinational (mostly European) prospective study, investigators assessed cancer risks in 1972 patients with Lynch syndrome and proven gene carrier status (MLH1, 944 patients; MSH2, 616; MSH6, 305; PMS2, 77). […] The calculated cumulative cancer incidence by age 70 was 72% in MLH1 and MSH2 carriers, 54% in MSH6 carriers, and 18% in PMS2 carriers. […] Survival rates were high: overall 5-year survival, 90%; colorectal cancer, 94%; endometrial, 98%; ovarian, 88%; urinary tract, 82%; and upper GI tract cancers, 58%. […] This is an observational study of cancer risk in Lynch syndrome, and the quantitative risks have importance for surveillance programs. The data suggest that screening could begin later for MLH6 and PMS2 carriers. The results cast some doubt on the value of surveillance because the cancer risks were substantial even with surveillance and the survival rates for cancers were high. However, high survival could be partly related to surveillance. In the absence of a control group, this study is unlikely to prompt major changes in the current surveillance approach in the U.S., except to initiate later onset of surveillance in MLH6 and PMS2 carriers.

• #99 Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database | Gut

  https://gut.bmj.com/content/66/3/464

  Despite the screening colonoscopy carried out, CRC was the most frequent first cancer observed and had a cumulative incidence at age 70 of 46% in MLH1 mutation carriers, and 35% in MSH2 mutation carriers with lower incidence for carriers of mutations in MSH6 and PMS2. […] The three major LS-associated cancer types, CRC, endometrial and ovarian, all had excellent observed survival, which is very encouraging for carriers of MMR gene mutations.

• #100 Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications | European Journal of Human Genetics

  https://www.nature.com/articles/5201584

  Molecular genetic heterogeneity must be considered when assessing the Lynch syndrome cancer phenotype. […] The major MMR genes that harbor causal mutations for Lynch syndrome are MSH2, MLH1, MSH6 and PMS2. Individuals with such mutations have an 70%85% risk, based on the mutation’s penetrance, to develop CRC by the age of 60 years. […] Should all CRC-affected individuals be tested? According to one school of thought, the answer is yes. […] It is concluded that CRC surveillance at 3-year intervals more than cuts in half the CRC risk, prevents CRC deaths, and decreases overall mortality by about 65% in Lynch syndrome families. […] Prophylactic colectomy as a prophylactic measure among Lynch syndrome patients remains controversial. However, in special circumstances, we propose that patients who carry germline MMR cancer-causing mutations, or who develop an early colonic adenoma, should be offered this option as an alternative to lifetime colonoscopic surveillance. […] Cancer-related morbidity and mortality may be reduced significantly through highly targeted surveillance and management measures that are based on knowledge of the natural history and cardinal features of the Lynch syndrome.

• #101 SciELO Brazil – Historical review of Lynch syndrome Historical review of Lynch syndrome

  https://www.scielo.br/j/jcol/a/YkSszNxGjZT47FbTmSdtjPH/

  Lynch syndrome was formerly known as Hereditary Nonpolyposis Colorectal Cancer. […] This has led to the ability to diagnose affected patients before they manifest with cancer, and therefore allow preventative surveillance strategies. […] Various surveillance strategies are recommended dependent on the relative risk of cancer and the ability to intervene with surgery to impact on survival. […] Current surveillance recommendations also start in Lynch patients as early as age 20-25 (or 10 years prior to family member’s cancer diagnosis, whichever is earlier) with colonoscopy. Intervals are every two years, until 40, then yearly afterwards. Regular surveillance is proven to reduce both incidence (11% vs 27%) and death (2% vs 12%) from CRC. […] Surveillance is an important part of the management of a patient with Lynch syndrome. Optimal surveillance requires a multidisciplinary approach involving primary care physicians, gastroenterologists, gynecologists and colorectal surgeons.

• #102 Lynch syndrome | Campaigns | Bowel Cancer UK

  https://www.bowelcanceruk.org.uk/campaigning/lynch-syndrome/

  We’re campaigning to improve the diagnosis and care of people with Lynch syndrome, a genetic condition that can increase the lifetime risk of bowel cancer to up to 80%. Lynch syndrome is estimated to cause around 3% of bowel cancer cases in the UK every year, many of them under the age of 50. […] Research shows there could be between 175,000 to 200,000 people in the UK with the genetic condition but the majority don’t know they have it because of a lack of systematic testing. […] People with Lynch syndrome should be placed in a screening or surveillance programme to receive regular colonoscopy every 18 months to two years. This can help reduce the chance of dying from bowel cancer by as much as 72%. […] All bowel cancer patients to be offered testing for Lynch syndrome, at diagnosis, in line with clinical guidance through a national screening programme.

• #103 Lynch Syndrome X-Talk of Enteral Mucosa With Immune System | Clinical Research Trial Listing

  https://www.centerwatch.com/clinical-trials/listings/NCT06708429/lynch-syndrome-x-talk-of-enteral-mucosa-with-immune-system?country=Italy&city=Cagliari

  Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central nervous system, skin, among others). […] Despite adherence to cancer surveillance programs, many patients still develop colorectal cancer and endometrial cancer. The Prospective Lynch Syndrome Database (PLSD) suggests that more frequent surveillance intervals do not significantly improve cancer risk reduction. […] The risk of developing colorectal cancer in individuals with Lynch syndrome remains high despite endoscopic surveillance. […] Understanding the biological processes underlying these interval colorectal cancers would help define targets of innovative therapies to prevent colorectal cancer (including but not limited to chemoprevention strategies and cancer vaccines).

• #104 Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance

  https://www.mdpi.com/2077-0383/10/11/2458

  Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). […] Surveillance by colonoscopy is a recommended preventive measure in LS mutation carriers. […] However, in contrast to the general population, a substantial proportion of LS mutation carriers develop “incident carcinomas”, or “post-colonoscopy CRC” despite regular colonoscopy. […] In fact, recent prospective studies collecting evidence from patients under surveillance demonstrated no difference in cumulative cancer incidence up to the age of 70 years when compared to studies on retrospective cohorts without surveillance. […] The majority of incident cancers were detected after previous colonoscopy without any pathological findings. […] In conclusion, our study identifies a set of features indicative of biological differences between incident and prevalent cancers in LS, which should further be monitored in prospective LS screening studies to guide towards optimized prevention protocols.

• #105 Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium | Hereditary Cancer in Clinical Practice | Full Text

  https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-022-00241-1

  The main finding of the current study would not, anyway, be confounded if a fraction of cases in the IMRC cohort underwent colonoscopy. […] The point estimates for the mean for path_PMS2 carriers below 50 years of age indicated a lower CRC incidence in the PLSD cohort when compared to the IMRC cohort, but this was not statistically significant. […] The current paper does not call this into question, but its findings do support a change in the message to be communicated to path_MMR carriers, namely that the purpose of surveillance colonoscopy is not to prevent CRC from occurring but to detect it early.

• #106

  https://link.springer.com/article/10.1007/s10689-024-00414-y

  However, the extent to which colonoscopy effectively prevents CRC in LS remains an ongoing controversy. […] During the last three years a significant amount of new data have emerged assessing the role of surveillance colonoscopy in LS. […] Colonoscopy prevents CRC mainly by the detection and removal of precursor lesions in the colorectum, known as polyps. […] Adenomas are the main precursor of CRC in LS, and evidence suggests that serrated lesions do not play a significant role. […] However, in the last decade a large amount of evidence has shown that the effectiveness of colonoscopy in CRC prevention is heterogenous due to variable quality between procedures. […] Several factors contribute to colonoscopy quality, including bowel preparation, withdrawal time, cecal intubation, appropriate polypectomy technique, endoscopist adenoma detection rate (ADR), among others.

• #107

  https://link.springer.com/article/10.1007/s10689-024-00414-y

  Notably, ADR stands out as the most extensively studied colonoscopy quality indicator. […] Consequently, ADR serves as a benchmark for evaluating endoscopist performance, distinguishing between lower and higher performers with direct clinical implications. […] In summary, quality standards are often not met in LS surveillance with likely direct consequences for adenoma detection and PCCRC incidence. […] Based on the described studies, guidelines from the European Society of Gastrointestinal Endoscopy (ESGE) and National Comprehensive Cancer Network (NCCN) recommend that colonoscopy surveillance should be performed in dedicated centers and likely, by more experienced endoscopists. […] However, more evidence is needed to establish the impact of quality colonoscopy indicators and the PCCRC risk in LS and define specific quality indicators in this population.

• #108

  https://link.springer.com/article/10.1007/s10689-024-00414-y

  Notably, ADR stands out as the most extensively studied colonoscopy quality indicator. […] Consequently, ADR serves as a benchmark for evaluating endoscopist performance, distinguishing between lower and higher performers with direct clinical implications. […] In summary, quality standards are often not met in LS surveillance with likely direct consequences for adenoma detection and PCCRC incidence. […] Based on the described studies, guidelines from the European Society of Gastrointestinal Endoscopy (ESGE) and National Comprehensive Cancer Network (NCCN) recommend that colonoscopy surveillance should be performed in dedicated centers and likely, by more experienced endoscopists. […] However, more evidence is needed to establish the impact of quality colonoscopy indicators and the PCCRC risk in LS and define specific quality indicators in this population.

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