Materiały źródłowe

• #1 Lynch syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/lynch-syndrome/diagnosis-treatment/drc-20374719

  There’s no cure for Lynch syndrome. People with Lynch syndrome often have tests to look for early signs of cancer. If cancer is found when it’s small, treatment is more likely to be successful. […] Sometimes cancer can be prevented with operations to remove some organs before they can develop cancer. Talk with your healthcare professional about your options. […] Some research suggests that taking a daily aspirin may lower the risk of cancer in people with Lynch syndrome. More research is needed to understand how much aspirin is needed to get the most benefit. Discuss the potential benefits and risks of aspirin therapy with your healthcare professional. Together you can decide whether this might be right for you. […] In certain situations, you might consider surgery or treatments to prevent cancer. Discuss the benefits and risks with your healthcare professional.

• #2 Lynch Syndrome: Symptoms, Causes, Diagnosis, and Treatment

  https://www.verywellhealth.com/lynch-syndrome-symptoms-causes-diagnosis-and-treatment-4690875

  There is no way to change your genes or any gene mutations you are born with. Therefore, there is also no cure for Lynch syndrome. […] If a person with Lynch syndrome develops cancer, their treatment will be cancer-specific. That may include radiation, chemotherapy, surgery, immunotherapy, and other methods. Treatments vary depending on how severe the cancer is and the body parts that are affected.

• #3 Lynch syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/lynch-syndrome/diagnosis-treatment/drc-20374719

  Surgery to remove the uterus is called hysterectomy. It prevents endometrial cancer. Another option may be a procedure to place a contraceptive device in the uterus. The device, called an intrauterine device (IUD), emits a hormone that lowers the risk of endometrial cancer. It also prevents you from getting pregnant. […] Surgery to remove the ovaries is called oophorectomy. It greatly reduces the risk of ovarian cancer. Another option might be oral contraceptive pills, which are also called birth control pills. Research suggests taking oral contraceptive pills for at least five years lowers the risk of ovarian cancer. […] Surgery to remove most or all of your colon is called colectomy. It lowers your risk of colon cancer. This operation might be an option in certain situations. For example, it might be an option if you’ve had colon cancer. Removing your colon would prevent you from getting colon cancer again.

• #4 Lynch Syndrome: Signs/Symptoms, Causes, Outlook

  https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome-and-hnpcc

  Treatment for Lynch syndrome focuses on detecting cancer and surgically removing it from your body. […] It’s possible that cancer could return, even after it’s surgically removed. […] Some people diagnosed with Lynch syndrome choose to have a hysterectomy (surgery to remove the uterus), oophorectomy (surgery to remove both ovaries) or colectomy (bowel resection surgery) since they are at an increased risk of getting cancer in certain parts of their body. […] After a Lynch syndrome diagnosis, your healthcare provider will work with you to regularly schedule cancer screenings to detect and treat cancer in its earliest stages. Early detection and treatment leads to the best prognosis, so you can live a happy and healthy life.

• #5 Lynch syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/lynch-syndrome/diagnosis-treatment/drc-20374719

  Surgery to remove the uterus is called hysterectomy. It prevents endometrial cancer. Another option may be a procedure to place a contraceptive device in the uterus. The device, called an intrauterine device (IUD), emits a hormone that lowers the risk of endometrial cancer. It also prevents you from getting pregnant. […] Surgery to remove the ovaries is called oophorectomy. It greatly reduces the risk of ovarian cancer. Another option might be oral contraceptive pills, which are also called birth control pills. Research suggests taking oral contraceptive pills for at least five years lowers the risk of ovarian cancer. […] Surgery to remove most or all of your colon is called colectomy. It lowers your risk of colon cancer. This operation might be an option in certain situations. For example, it might be an option if you’ve had colon cancer. Removing your colon would prevent you from getting colon cancer again.

• #6 Lynch syndrome (LS) | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/worried-about-cancer/causes-and-risk-factors/lynch-syndrome-ls

  Women, and people assigned female at birth, with LS may choose to have surgery to remove the womb or ovaries, or both. This reduces the risk of womb and ovarian cancer. But it will also mean you cannot get pregnant. […] If you have surgery to remove the ovaries, you will start the menopause if you have not already. Your genetics specialist or doctor can explain more about this. You may be offered hormone replacement therapy (HRT) to help with the effects of the menopause. […] All types of surgery have risks and possible side effects. It is helpful to discuss the benefits and disadvantages with your doctor. Before deciding to have surgery, you may want to talk it over with your family and other people you trust.

• #7 Lynch syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/lynch-syndrome/diagnosis-treatment/drc-20374719

  Surgery to remove the uterus is called hysterectomy. It prevents endometrial cancer. Another option may be a procedure to place a contraceptive device in the uterus. The device, called an intrauterine device (IUD), emits a hormone that lowers the risk of endometrial cancer. It also prevents you from getting pregnant. […] Surgery to remove the ovaries is called oophorectomy. It greatly reduces the risk of ovarian cancer. Another option might be oral contraceptive pills, which are also called birth control pills. Research suggests taking oral contraceptive pills for at least five years lowers the risk of ovarian cancer. […] Surgery to remove most or all of your colon is called colectomy. It lowers your risk of colon cancer. This operation might be an option in certain situations. For example, it might be an option if you’ve had colon cancer. Removing your colon would prevent you from getting colon cancer again.

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

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

  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. […] Aspirin reduces long-term colorectal cancer (CRC) risk by approximately 50%. Recommended doses include 150 mg ODonce daily or 300 mg ODonce daily for patients with BMIbody mass index 30. […] Women should be counselled on prophylactic hysterectomy and bilateral salpingo-oopherectomy from age 40 years (MLH1, MSH2 and MSH6 variant carriers). […] Chemoprophylaxis with daily aspirin for at least 2 years is recommended in patients 70 years old diagnosed with LS to reduce long-term CRC risk. […] Personalised systemic anticancer therapy is feasible for locally advanced or metastatic disease associated with LS, and may respond very well to relatively novel checkpoint inhibition immunotherapy.

• #9 Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) Treatment & Management: Surgical Care, Postoperative Surveillance, Prophylactic Colectomy

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

  Surgical Care […] The three most commonly performed operations for the treatment of hereditary nonpolyposis colorectal cancer (HNPCC) are as follows: […] Subtotal colectomy with ileorectal anastomosis […] Total colectomy with ileoanal pull-through (pouch procedure) […] Total colectomy with ileostomy […] Subtotal colectomy with ileorectal anastomosis and postsurgical rectal surveillance are recommended when colon cancer develops in patients with HNPCC. This operation may be considered for prophylaxis in selected mismatch repair (MMR) gene mutation carriers (see Prophylactic Colectomy). […] Subtotal colectomy with ileorectal anastomosis is preferred over segmental resection or hemicolectomy for HNPCC-associated cancers that arise proximal to the peritoneal reflection. However, guidelines from the American Society of Colon and Rectal Surgeons note that although segmental colectomy provides inferior cancer risk reduction, some patients may wish to consider it, because it results in less impairment of bowel function.

• #10 Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) Treatment & Management: Surgical Care, Postoperative Surveillance, Prophylactic Colectomy

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

  For carriers of a pathogenic MMR gene variant with a metachronous colonic cancer, extended surgery with ileorectal/ileosigmoidal anastomosis may be considered […] A decision on extended colorectal surgery should not be based on deficient mismatch repair (dMMR) immunohistochemistry and BRAF staining/MLH1 hypermethylation from the preoperative endoscopic biopsy only […] For carriers of pathogenic MMR gene variants, the surgical treatment of a primary rectal cancer (occurring as the first colorectal cancer) should be standard resection (anterior resection or abdominoperineal resection) […] In young carriers of pathogenic MMR gene variants with a rectal cancer and a synchronous neoplasia or a personal preference, extended surgery can be considered […] In carriers of pathogenic MMR gene variants who do not have neoplastic colorectal lesions, prophylactic colorectal surgery based on their pathogenic variant-related risk only is not recommended

• #11 Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) Treatment & Management: Surgical Care, Postoperative Surveillance, Prophylactic Colectomy

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

  Postoperative Surveillance […] Postoperative surveillance is indicated following curative resection in patients with HNPCC because of the high rates of metachronous cancers (estimated as high as 40% at 10 y and 72% at 40 y, depending on the length of colon remaining after surgery). Surveillance sigmoidoscopy is recommended every 1-2 years following subtotal colectomy or surveillance colonoscopy is recommended every 1-2 years following partial colectomy. […] Prophylactic Colectomy […] Because of the excessive occurrence of both incident and metachronous colon cancers (MCC), prophylactic subtotal colectomy (SC) or total colectomy (TC) may be an alternative to surveillance colonoscopy for individuals with confirmed mutations. Opponents argue that, because of incomplete penetrance, 15-20% of these colectomies may be unnecessary and that patients undergoing prophylactic SC remain at risk of developing metachronous rectal cancers and extracolonic malignancies.

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

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

  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. […] We recommend 150 mg daily upon diagnosis of LS, with a dose of 300 mg daily for those with a raised body mass index, because the efficacy of aspirin is reduced in obese patients. […] The decision regarding surgery should be a patient-centred, multidisciplinary approach, taking into account patient wishes, gene-specific risk, comorbidities and age. […] The advent of checkpoint inhibitor immunotherapy is a significant recent advance in dMMR CRC as well as across a range of dMMR cancers.

• #13 Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) Treatment & Management: Surgical Care, Postoperative Surveillance, Prophylactic Colectomy

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

  Chemoprevention […] Observational studies of persons at average risk have suggested that the use of some medications and supplements (eg, nonsteroidal anti-inflammatory drugs [NSAIDs], aspirin, estrogens, folic acid, calcium), as well as antioxidants (eg, beta carotene, vitamin C, vitamin E), may prevent the development of colorectal cancer. However, randomized controlled trials of the use of chemopreventive agents are limited, and only a few studies have specifically enrolled people with an inherited predisposition for colorectal cancer; therefore, aspirin is the only agent currently recommended for reducing colorectal cancer risk in patients with HNPCC. […] Aspirin […] The international CAPP2 trial of cancer prevention in HNPCC randomized 427 participants to receive aspirin (600 mg daily) and 434 to receive placebo, and monitored cancer outcomes for at least 10 years in all participants, and for up to 20 years in some participants. Over that period, the rate of colorectal cancer in the aspirin cohort compared with the placebo cohort was 9% versus 13% (hazard ratio 0.65 [95% confidence interval 0.43-0.97; P=0.035). Aspirin use did not reduce the incidence of HNPCC-related extracolonic cancers.

• #14 Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) Treatment & Management: Surgical Care, Postoperative Surveillance, Prophylactic Colectomy

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

  Chemoprevention […] Observational studies of persons at average risk have suggested that the use of some medications and supplements (eg, nonsteroidal anti-inflammatory drugs [NSAIDs], aspirin, estrogens, folic acid, calcium), as well as antioxidants (eg, beta carotene, vitamin C, vitamin E), may prevent the development of colorectal cancer. However, randomized controlled trials of the use of chemopreventive agents are limited, and only a few studies have specifically enrolled people with an inherited predisposition for colorectal cancer; therefore, aspirin is the only agent currently recommended for reducing colorectal cancer risk in patients with HNPCC. […] Aspirin […] The international CAPP2 trial of cancer prevention in HNPCC randomized 427 participants to receive aspirin (600 mg daily) and 434 to receive placebo, and monitored cancer outcomes for at least 10 years in all participants, and for up to 20 years in some participants. Over that period, the rate of colorectal cancer in the aspirin cohort compared with the placebo cohort was 9% versus 13% (hazard ratio 0.65 [95% confidence interval 0.43-0.97; P=0.035). Aspirin use did not reduce the incidence of HNPCC-related extracolonic cancers.

• #15 Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) Treatment & Management: Surgical Care, Postoperative Surveillance, Prophylactic Colectomy

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

  National Comprehensive Cancer Network (NCCN) guidelines recommend considering daily aspirin to reduce the risk of future colorectal cancer in all patients with HNPCC (except those who have undergone total proctocolectomy). The decision to use aspirin and the dose chosen should be made on an individual basis. […] Joint European guidelines recommend prophylactic aspirin for carriers of pathogenic MMR gene variants. The minimum dosage should be 75-100 mg daily; people with above-average body mass should take a higher dose.

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

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

  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. […] Aspirin reduces long-term colorectal cancer (CRC) risk by approximately 50%. Recommended doses include 150 mg ODonce daily or 300 mg ODonce daily for patients with BMIbody mass index 30. […] Women should be counselled on prophylactic hysterectomy and bilateral salpingo-oopherectomy from age 40 years (MLH1, MSH2 and MSH6 variant carriers). […] Chemoprophylaxis with daily aspirin for at least 2 years is recommended in patients 70 years old diagnosed with LS to reduce long-term CRC risk. […] Personalised systemic anticancer therapy is feasible for locally advanced or metastatic disease associated with LS, and may respond very well to relatively novel checkpoint inhibition immunotherapy.

• #17 Lynch syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/lynch-syndrome/diagnosis-treatment/drc-20374719

  Surgery to remove the uterus is called hysterectomy. It prevents endometrial cancer. Another option may be a procedure to place a contraceptive device in the uterus. The device, called an intrauterine device (IUD), emits a hormone that lowers the risk of endometrial cancer. It also prevents you from getting pregnant. […] Surgery to remove the ovaries is called oophorectomy. It greatly reduces the risk of ovarian cancer. Another option might be oral contraceptive pills, which are also called birth control pills. Research suggests taking oral contraceptive pills for at least five years lowers the risk of ovarian cancer. […] Surgery to remove most or all of your colon is called colectomy. It lowers your risk of colon cancer. This operation might be an option in certain situations. For example, it might be an option if you’ve had colon cancer. Removing your colon would prevent you from getting colon cancer again.

• #18 Managing Lynch Syndrome | Lynch Syndrome Center

  https://lynchsyndromecenter.ucsf.edu/managing-lynch-syndrome

  A hysterectomy refers to surgical removal of the uterus. […] An oophorectomy is a surgical procedure to remove the ovaries, which reduces the risk of ovarian cancer. […] The best way to treat cancer is to prevent it from occurring in the first place. […] Because Lynch syndrome increases the risk of certain types of cancer, preventive strategies are of the utmost importance. […] Some research indicates that daily aspirin may be a viable preventive strategy for individuals with Lynch syndrome. […] The Cancer and Steroid Hormone Study (CASH) demonstrated that use of oral contraceptives can reduce the risk of endometrial cancer by 50%. […] While diet and exercise are not a remedy for disease, they do contribute to overall health. […] If you have Lynch syndrome and are planning to start or grow your family, there are options for preimplantation genetic diagnosis (PGD) assisted reproduction to reduce the risk of passing on this condition.

• #19 Can a vaccine help prevent Lynch syndrome-related cancers? | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/can-a-vaccine-help-prevent-lynch-syndrome-related-cancers.h00-159538956.html

  Vilar-Sanchez is hopeful that a new clinical trial investigating a vaccine will offer an effective, safe and easy method of preventing Lynch syndrome-related cancers. […] A large clinical trial, CAPP-2, demonstrated the benefit of aspirin as chemoprevention for this patient population. […] A Phase I clinical trial led by Vilar-Sanchez showed the over-the-counter anti-inflammatory drug naproxen can also be an effective chemoprevention method for Lynch syndrome patients. […] The clinical trial will investigate a preventive vaccine designed to recognize multiple mutated proteins frequently found in patients with Lynch syndrome. […] We want to immunize patients who are cancer-free with those shared foreign mutated proteins so that the immune system will be prepared if a patient develops a tumor to reject it, Vilar-Sanchez says. […] The preventive clinical trials goal is to offer patients with Lynch syndrome an easier approach to managing cancer risks. We hope this vaccine can serve as interception, and, if the results show it works, patients will be able to space out their surveillance more and more, Vilar-Sanchez says.

• #20 A Potential Cancer Prevention Vaccine for Lynch Syndrome – NCI

  https://www.cancer.gov/news-events/cancer-currents-blog/2019/vaccine-prevents-colorectal-lynch-syndrome

  Naproxen also appeared to enhance the efficacy of the vaccine. Mice treated with the vaccine plus naproxen lived longer than mice that received the vaccine alone or the vaccine plus aspirin. […] To develop a neoantigen vaccine for humans, Dr. Lipkin and his colleagues plan to identify shared neoantigens that occur in the early-stage colorectal tumors of people with Lynch syndrome.

• #21 Lynch Syndrome | Personalized Care | Columbia Surgery

  https://columbiasurgery.org/conditions-and-treatments/lynch-syndrome

  While there is no cure for Lynch syndrome itself, cancer that develops as a result of Lynch syndrome can be treated like normally. This may include the following treatments: […] Chemotherapy: This uses medication to damage and destroy cancer cells. Rather than targeting a specific area, these drugs travel through the bloodstream and attack cancer cells throughout the body. […] Radiation Therapy: This uses high-energy waves or particles, such as x-rays, gamma rays, electron beams, or protons, to damage or destroy cancer cells in a specific area. […] Surgery: This refers to the physical removal of the cancer. The size of the surgery will depend on the stage and location of the cancer. However, Lynch syndrome patients who have colon or endometrial cancer may need to have their entire colon or uterus removed due to the increased likelihood of recurrence.

• #22 Lynch Syndrome | Colorectal Cancer Alliance

  https://colorectalcancer.org/screening-prevention/prevention/genetic-and-inherited-conditions/lynch-syndrome

  Lynch syndrome patients with colon cancer are treated similarly to colon cancer patients without Lynch syndrome. […] Depending on the stage of diagnosis, a typical treatment plan will include surgery, chemotherapy, and immunotherapy. […] Some people with Lynch syndrome may consider surgically removing their whole colon (prophylactic colectomy), even before cancer is detected, to reduce the risk of developing colorectal cancer. […] Women with Lynch syndrome should have a screening plan for endometrial cancer and ovarian cancer that includes an annual: […] Consider having surgery to remove your uterus (hysterectomy) and ovaries (oophorectomy) to reduce risk of endometrial and ovarian cancers.

• #23 Hereditary nonpolyposis colorectal cancer – Wikipedia

  https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer

  Surgery remains the front-line therapy for Lynch syndrome. Patients with Lynch syndrome who develop colorectal cancer may be treated with either a partial colectomy or total colectomy with ileorectal anastomosis. Due to the increased risk of colorectal cancer following partial colectomy and similar quality of life after both surgeries, a total colectomy may be a preferred treatment for Lynch syndrome, especially in younger patients. […] There is an ongoing controversy over the benefit of 5-fluorouracil-based adjuvant therapies for Lynch syndrome-related colorectal tumours, particularly those in stages I and II. […] Anti-PD-1 antibody therapy can be effective. […] Checkpoint blockade with anti-PD-1 therapy is now the preferred first-line therapy for advanced Microsatellite-InstabilityHigh colorectal cancer.

• #24 Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) Treatment & Management: Surgical Care, Postoperative Surveillance, Prophylactic Colectomy

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

  Although total proctocolectomy with ileoanal anastomosis and total proctocolectomy with ileostomy eliminate the need for endoscopic surveillance, these procedures are generally reserved for patients with HNPCC who present with rectal cancers, primarily because of concerns about postoperative morbidity and quality of life. […] European guidelines on HNPCC include the following recommendations regarding surgical management of colorectal cancer: […] In carriers of pathogenic variants of MLH1 or MSH2 who develop a first colonic cancer, extended surgery with ileosigmoidal/ileorectal anastomosis is preferable to standard resection to reduce the risk of metachronous colorectal cancer […] For carriers of pathogenic variants of MSH6 or PMS2 with a first colonic cancer, offer standard/segmental colonic resection

• #25

  https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name/msh6/cancer-treatment

  Testing positive for an inherited MSH6 mutation may affect your treatment options or eligibility for clinical trials studying which treatments work best. […] People with an MSH6 mutation who have been diagnosed with cancer may benefit from biomarker testing and may qualify for clinical trials looking for more effective treatments for cancer. […] Most cancers in people with an inherited MSH6 mutation will have a tumor biomarker known as MSI-high” or „MSI-H” (microsatellite instability). This biomarker indicates that the tumor has a feature known as „mismatch repair deficiency,” which is also known by the abbreviations dMMR or MMR-D. Testing tumors for mismatch repair deficiency or MSI-High can be important, because these tumors are more likely to respond to immunotherapy agents known as immune checkpoint inhibitors.

• #26

  https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name/msh6/cancer-treatment

  Jemperli (dostarlimab) may be used to treat MSI-H or dMMR advanced colorectal cancer in people whose cancer got worse after chemotherapy. […] Keytruda (pembrolizumab) is an immune checkpoint inhibitor used to treat metastatic or advanced colorectal cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan. […] Opdivo (nivolumab) is an immune checkpoint inhibitor used alone or in combination with Yervoy (ipilimumab) for metastatic cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan. […] Infimzi (durvalumab) is an immunotherapy that is approved in combination with chemotherapy to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient. […] Jemperli (dostarlimab) is an immunotherapy that is approved to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient.

• #27 Targeted immunotherapy helps Florida woman beat Lynch syndrome-driven colon cancer – Mayo Clinic Comprehensive Cancer Center Blog

  https://cancerblog.mayoclinic.org/2022/07/13/targeted-immunotherapy-helps-florida-woman-beat-lynch-syndrome-driven-colon-cancer/

  Dr. Jones wanted to start Katie on a combination of immunotherapy drugs called nivolumab and ipilimumab, which work together to help the body’s immune system recognize and kill cancer cells. […] Katie didn’t waste any time starting immunotherapy. […] „I did four treatments total. Every three weeks, I came to Mayo,” she says. […] „Everything had drastically shrunk. They really couldn’t even discern anything in my colon from the scans,” she says. […] „Dr. Colibaseanu called and said: 'We couldn’t find any viable cancer. Everything was necrotic.’ So, I’m like: 'Doc, are you saying I don’t have cancer anymore? Because if that’s what you’re saying, you could just tell me that.'” […] „She had a wonderful response,” says Dr. Jones. „We still saw some lesions, but we didn’t know for sure. So she went for surgery. And at the time of surgery, all the cancer was dead. That’s amazing.” […] But the results of her treatment underline the importance of an individualized approach to cancer care. […] „At Mayo Clinic, we’re going to individualize your care specifically for you and your mutation in a multidisciplinary fashion for the best outcome,” says Dr. Jones.

• #28 NHS England » Life-saving NHS test helping to diagnose thousands with cancer-causing syndrome

  http://england.nhs.uk/2023/04/life-saving-nhs-test-helping-to-diagnose-thousands-with-cancer-causing-syndrome

  A life-saving NHS testing programme is helping to diagnose thousands of people with a genetic condition that increases the chance of developing cancer. […] The national programme ensures all people diagnosed with bowel and endometrial are offered genomic testing, with a diagnosis for Lynch syndrome not only helping to guide more personalised cancer treatment but enabling their families and relatives to be offered testing too. […] Relatives who receive a diagnosis of Lynch syndrome can be referred to genetic services to discuss regular testing options to help catch any cancers as early as possible, as well as to consider preventive options such as taking aspirin or undergoing risk-reducing surgery. […] Those with Lynch syndrome who are diagnosed with bowel cancer tend to have tumours that are more responsive to immunotherapies such as pembrolizumab, with the genetic testing enabling them to receive the best treatment for their cancer and giving them the best chance of survival.

• #29

  https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name/msh6/cancer-treatment

  Jemperli (dostarlimab) may be used to treat MSI-H or dMMR advanced colorectal cancer in people whose cancer got worse after chemotherapy. […] Keytruda (pembrolizumab) is an immune checkpoint inhibitor used to treat metastatic or advanced colorectal cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan. […] Opdivo (nivolumab) is an immune checkpoint inhibitor used alone or in combination with Yervoy (ipilimumab) for metastatic cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan. […] Infimzi (durvalumab) is an immunotherapy that is approved in combination with chemotherapy to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient. […] Jemperli (dostarlimab) is an immunotherapy that is approved to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient.

• #30

  https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name/msh6/cancer-treatment

  Jemperli (dostarlimab) may be used to treat MSI-H or dMMR advanced colorectal cancer in people whose cancer got worse after chemotherapy. […] Keytruda (pembrolizumab) is an immune checkpoint inhibitor used to treat metastatic or advanced colorectal cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan. […] Opdivo (nivolumab) is an immune checkpoint inhibitor used alone or in combination with Yervoy (ipilimumab) for metastatic cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan. […] Infimzi (durvalumab) is an immunotherapy that is approved in combination with chemotherapy to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient. […] Jemperli (dostarlimab) is an immunotherapy that is approved to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient.

• #31

  https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name/msh6/cancer-treatment

  Jemperli (dostarlimab) may be used to treat MSI-H or dMMR advanced colorectal cancer in people whose cancer got worse after chemotherapy. […] Keytruda (pembrolizumab) is an immune checkpoint inhibitor used to treat metastatic or advanced colorectal cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan. […] Opdivo (nivolumab) is an immune checkpoint inhibitor used alone or in combination with Yervoy (ipilimumab) for metastatic cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan. […] Infimzi (durvalumab) is an immunotherapy that is approved in combination with chemotherapy to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient. […] Jemperli (dostarlimab) is an immunotherapy that is approved to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient.

• #32 Hereditary nonpolyposis colorectal cancer – Wikipedia

  https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer

  Surgery remains the front-line therapy for Lynch syndrome. Patients with Lynch syndrome who develop colorectal cancer may be treated with either a partial colectomy or total colectomy with ileorectal anastomosis. Due to the increased risk of colorectal cancer following partial colectomy and similar quality of life after both surgeries, a total colectomy may be a preferred treatment for Lynch syndrome, especially in younger patients. […] There is an ongoing controversy over the benefit of 5-fluorouracil-based adjuvant therapies for Lynch syndrome-related colorectal tumours, particularly those in stages I and II. […] Anti-PD-1 antibody therapy can be effective. […] Checkpoint blockade with anti-PD-1 therapy is now the preferred first-line therapy for advanced Microsatellite-InstabilityHigh colorectal cancer.

• #33 Immune checkpoint therapy for treatment of Lynch syndrome | CEG

  https://www.dovepress.com/an-update-on-immune-checkpoint-therapy-for-the-treatment-of-lynch-synd-peer-reviewed-fulltext-article-CEG

  For Lynch syndrome, the large cohort studies showed ORRs between 46-71% for MSI/dMMR colorectal cancers and 14-100% for noncolorectal MSI/dMMR cancers. […] Despite the fact that data is still scarce, we have found that Lynch syndrome cancer patients may benefit from immune checkpoint-based therapies and that no difference in the response rates has been reported to date between Lynch syndrome and sporadic MSI cancer patients.

• #34 Lynch Syndrome | Personalized Care | Columbia Surgery

  https://columbiasurgery.org/conditions-and-treatments/lynch-syndrome

  While there is no cure for Lynch syndrome itself, cancer that develops as a result of Lynch syndrome can be treated like normally. This may include the following treatments: […] Chemotherapy: This uses medication to damage and destroy cancer cells. Rather than targeting a specific area, these drugs travel through the bloodstream and attack cancer cells throughout the body. […] Radiation Therapy: This uses high-energy waves or particles, such as x-rays, gamma rays, electron beams, or protons, to damage or destroy cancer cells in a specific area. […] Surgery: This refers to the physical removal of the cancer. The size of the surgery will depend on the stage and location of the cancer. However, Lynch syndrome patients who have colon or endometrial cancer may need to have their entire colon or uterus removed due to the increased likelihood of recurrence.

• #35 Lynch Syndrome | Personalized Care | Columbia Surgery

  https://columbiasurgery.org/conditions-and-treatments/lynch-syndrome

  While there is no cure for Lynch syndrome itself, cancer that develops as a result of Lynch syndrome can be treated like normally. This may include the following treatments: […] Chemotherapy: This uses medication to damage and destroy cancer cells. Rather than targeting a specific area, these drugs travel through the bloodstream and attack cancer cells throughout the body. […] Radiation Therapy: This uses high-energy waves or particles, such as x-rays, gamma rays, electron beams, or protons, to damage or destroy cancer cells in a specific area. […] Surgery: This refers to the physical removal of the cancer. The size of the surgery will depend on the stage and location of the cancer. However, Lynch syndrome patients who have colon or endometrial cancer may need to have their entire colon or uterus removed due to the increased likelihood of recurrence.

• #36 A Potential Cancer Prevention Vaccine for Lynch Syndrome – NCI

  https://www.cancer.gov/news-events/cancer-currents-blog/2019/vaccine-prevents-colorectal-lynch-syndrome

  Researchers have taken the first steps toward developing a vaccine to prevent cancer in people with Lynch syndrome, an inherited condition that elevates a persons risk of colorectal, endometrial, and other types of cancer. […] Current methods for preventing cancer in people with Lynch syndrome include frequent cancer screenings to detect precancer or early-stage cancer, low-dose aspirin for colorectal cancer prevention, and risk-reducing surgery. […] A vaccine could offer another, potentially more efficient, way to hinder cancer development. […] Dr. Lipkin, together with researchers from DKFZ, were awarded funding from the PREVENT Program to develop a cancer prevention vaccine in mice and investigate treatments that might boost its efficacy. […] This is one of the first cancer immunoprevention vaccines that uses anticipated neoantigens that might be formed from DNA mismatch repair defects, Dr. Umar said.

• #37 Can a vaccine help prevent Lynch syndrome-related cancers? | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/can-a-vaccine-help-prevent-lynch-syndrome-related-cancers.h00-159538956.html

  Vilar-Sanchez is hopeful that a new clinical trial investigating a vaccine will offer an effective, safe and easy method of preventing Lynch syndrome-related cancers. […] A large clinical trial, CAPP-2, demonstrated the benefit of aspirin as chemoprevention for this patient population. […] A Phase I clinical trial led by Vilar-Sanchez showed the over-the-counter anti-inflammatory drug naproxen can also be an effective chemoprevention method for Lynch syndrome patients. […] The clinical trial will investigate a preventive vaccine designed to recognize multiple mutated proteins frequently found in patients with Lynch syndrome. […] We want to immunize patients who are cancer-free with those shared foreign mutated proteins so that the immune system will be prepared if a patient develops a tumor to reject it, Vilar-Sanchez says. […] The preventive clinical trials goal is to offer patients with Lynch syndrome an easier approach to managing cancer risks. We hope this vaccine can serve as interception, and, if the results show it works, patients will be able to space out their surveillance more and more, Vilar-Sanchez says.

• #38 Can a vaccine help prevent Lynch syndrome-related cancers? | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/can-a-vaccine-help-prevent-lynch-syndrome-related-cancers.h00-159538956.html

• #39 Work starts on a cancer vaccine for people with Lynch syndrome – Cancer Research UK – Cancer Newsfacebook icontwitter iconlinkedin iconfacebook icontwitter iconinstagram iconlinkedin iconyoutube iconfundraising regulator icon

  https://news.cancerresearchuk.org/2024/09/10/lynchvax-cancer-vaccine-for-people-with-lynch-syndrome-funding/

  With our funding, scientists at the University of Oxford are starting work on a vaccine to prevent cancer in people with Lynch syndrome. […] The LynchVax vaccine could be a way to train people’s immune systems to stop these cancers from developing. […] LynchVax has the potential to reduce that risk. While our work is in its infancy, we are excited by the prospect of a vaccine that can potentially be used to prevent the multiple types of cancer that typically occur in people with Lynch syndrome and deliver tangible improvements in survival. […] We’ve awarded up to £550,000 in funding to Leedham’s team, which will enable them to closely study the abnormal cell changes that lead to cancer in people with Lynch syndrome. […] By analysing these precancerous cells, the researchers hope to identify ways a vaccine could train the immune system to recognise and destroy them.

• #40 Work starts on a cancer vaccine for people with Lynch syndrome – Cancer Research UK – Cancer Newsfacebook icontwitter iconlinkedin iconfacebook icontwitter iconinstagram iconlinkedin iconyoutube iconfundraising regulator icon

  https://news.cancerresearchuk.org/2024/09/10/lynchvax-cancer-vaccine-for-people-with-lynch-syndrome-funding/

  Although the LynchVax team is taking its first step towards developing a vaccine and it will likely take years before the technology is ready to be tested in clinical trials, people with Lynch syndrome have already contributed to the project. […] In line with National Institute for Health and Care Excellence (NICE) guidelines from 2017, the NHS offers a genomic test for Lynch syndrome to everyone diagnosed with bowel cancer or endometrial cancer. […] Because people with Lynch syndrome who are diagnosed with bowel cancer tend to have tumours that are more responsive to immunotherapies, this testing can also help doctors offer the treatment with the best chance of success. […] As part of the NHS Bowel Cancer Screening Programme, people with Lynch syndrome are also invited for a screening colonoscopy every two years.

• #41 Nouscom Presents Positive Final Results from Completed Phase Ib/II Study of Neoantigen Immunotherapy NOUS-209 at AACR 2025, Demonstrating a Highly Potent and Durable Immune Response in Lynch Syndrome Carriers – Nouscom

  https://nouscom.com/2025/04/29/nouscom-presents-positive-final-results-from-completed-phase-ib-ii-study-of-neoantigen-immunotherapy-nous-209-at-aacr-2025-demonstrating-a-highly-potent-and-durable-immune-response-in-lynch-syndrome/

  Lynch Syndrome (LS) is a common hereditary condition that significantly increases the lifetime risk of cancer, especially colorectal and endometrial, to as high as 80% […] Final results from a Phase Ib/II study of NOUS-209 monotherapy in LS carriers confirm its safety and immunogenicity, supporting advancement to a potentially registration-enabling study for cancer interception […] The study found that NOUS-209 monotherapy was safe, well-tolerated and induced potent, broad and durable immune responses in all LS carriers evaluated […] NOUS-209 is an investigational off-the-shelf cancer immunotherapy that targets tumors with mismatch repair deficiency (dMMR) and/or MSI […] These data support the further clinical development of NOUS-209 as a monotherapy in LS carriers […] Following positive Type B and C meetings with the US Food and Drug Administration (FDA), Nouscom has a clear path forward for the advancement of NOUS-209 to a potentially registration-enabling Phase 2/3 clinical study for cancer interception in those living with LS

• #42 Nouscom Presents Positive Final Results from Completed Phase Ib/II Study of Neoantigen Immunotherapy NOUS-209 at AACR 2025, Demonstrating a Highly Potent and Durable Immune Response in Lynch Syndrome Carriers – Nouscom

  https://nouscom.com/2025/04/29/nouscom-presents-positive-final-results-from-completed-phase-ib-ii-study-of-neoantigen-immunotherapy-nous-209-at-aacr-2025-demonstrating-a-highly-potent-and-durable-immune-response-in-lynch-syndrome/

  Currently, individuals with Lynch Syndrome rely on frequent screenings, such as colonoscopies, to manage their markedly increased risk of developing cancer […] These findings support NOUS-209’s potential as a cancer interception strategy […] These compelling Phase Ib/II data further reinforce our confidence in NOUS-209 monotherapy to safely and effectively prime the immune system to recognize and intercept pre-malignant and cancer lesions before they progress into tumors in LS carriers […] As a pioneering approach to cancer interception, Nouscom’s investigational immunotherapy, NOUS-209, is designed to train the immune system to recognize and stop cancer before it develops […] Phase Ib/II data demonstrated the safety of NOUS-209 and its ability to stimulate potent immune responses in LS carriers, supporting its advancement into a potentially registration-enabling Phase 2/3 trial in cancer interception.

• #43 Understanding Lynch Syndrome and Associated Cancer Risk: Future Preventive Considerations

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

  Immunoprevention may be an option for the prevention of microsatellite instabilityrelated colon cancer. Lynch syndrome represents an ideal condition for the development of a preventive cancer vaccine. The mutations induced by mismatch repair deficiency are predictable, and therefore, can result in a defined set of neoantigens. As such, Lynch syndrome carriers may be able to potentially benefit from a cancer prevention vaccine. […] In summary, many advances have been made for the identification, management, and the treatment of Lynch syndrome. Additional work will continue to optimize cancer prevention and potential cure for Lynch syndrome.

• #44 A cancer vaccine approach for personalized treatment of Lynch Syndrome | Scientific Reports

  https://www.nature.com/articles/s41598-018-30466-x

  Lynch syndrome (LS) is a cancer predisposition disorder wherein patients have a 70-80% lifetime risk of developing colorectal cancers (CRC). […] We postulated that vaccination with these mutant peptide antigens could offer promising treatment options to LS patients. […] Our study paves the way towards development of a cancer vaccine to treat or delay the onset/relapse of LS-CRC. […] Our study provides evidence that a valuable source of therapeutic cancer vaccine peptides for hereditary cancers can be harnessed from the multitude of somatic mutations associated with the switch to cancer progression. […] The utility of such neoantigens as vaccines for the treatment of both LS-CRC patients as well as LS-mutation carriers offers a promising approach to both treat and to potentially prevent the tumour from relapse.

• #45 Lynch Syndrome Screening and Treatment Program | Massachusetts General Hospital

  https://www.massgeneral.org/cancer-center/treatments-and-services/cancer-genetics/lynch-syndrome

  The Lynch Syndrome Screening and Treatment Program provides expert and lifelong care for individuals and families affected by Lynch syndrome. […] The Lynch Syndrome Screening and Treatment Program at Mass General Cancer Center gives complete, personalized, and lifelong care for patients and families with Lynch syndrome. […] The program stays up to date on the latest scientific knowledge and national guidelines for managing Lynch syndrome. […] The Lynch Syndrome Screening and Treatment Program provides expert and lifelong care for individuals and families affected by Lynch syndrome and makes sure they get the best possible medical management and support. […] We are here to help you understand Lynch syndrome better and offer appropriate treatment and screening options. […] People with Lynch syndrome can significantly decrease their risk of developing cancer with careful medical follow-ups, which are available at the Lynch Syndrome Screening and Treatment Program at Mass General Cancer Center.

• #46 Lynch Syndrome Center | Dana-Farber Cancer Institute

  https://www.dana-farber.org/cancer-care/treatment/cancer-genetics/syndromes-genes-programs/lynch-syndrome

  Lynch syndrome is a common and often under-diagnosed inherited condition that increases one’s risk for a variety of cancers, including colon, rectal, uterine, ovarian, urinary tract, and other malignancies. Dana-Farber Cancer Institute’s Lynch Syndrome Center is the largest and most comprehensive multidisciplinary cancer genetics group in the region that specializes in coordinating the care of people with Lynch syndrome. […] The Center’s mission is to provide personalized and comprehensive care for families with Lynch syndrome, supported by world-class research and state-of-the-art diagnostics. As part of Dana-Farber’s Center for Cancer Genetics and Prevention, our specialists help manage the comprehensive care of individuals and families with Lynch syndrome by providing genetic testing for individuals at risk for Lynch syndrome, creating personalized screening plans aimed at preventing Lynch syndrome-related cancers, and coordinating care with experts in surgery, gastroenterology, dermatology, and oncology.

• #47 Managing Lynch Syndrome | Lynch Syndrome Center

  https://lynchsyndromecenter.ucsf.edu/managing-lynch-syndrome

  In this section we will discuss screening, surgery and cancer prevention strategies. […] A diagnosis of Lynch syndrome requires vigilance in order to prevent and detect cancer at an early stage. Because Lynch syndrome is associated with an increased risk of cancer, its important to carefully follow screening guidelines and take steps to modify lifestyle and prevent cancer. […] If youve been diagnosed with Lynch syndrome, your physician and genetic counselor will likely recommend a specific screening program for you. Screening tests are tests that are designed to detect cancer prior to the presence of any symptoms. Screening for cancer helps ensure that cancer is detected in its earliest stages when it is most treatable. […] The National Comprehensive Cancer Network (NCCN) provides a set of screening guidelines for individuals with Lynch syndrome.

• #48 Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK431096/

  Patients found to have a mutation associated with Lynch syndrome are at increased cancer risk, with the greatest risk being early colorectal and endometrial cancers, followed by gastric and ovarian malignancies. The risk for Lynch syndrome-related colorectal cancer and other malignancies is reported to be lower in MSH6 and PMS2 carriers (lower endometrial and ovarian cancer risk in PMS2 variants). […] […] Colonoscopy begins at age 20 to 25 and repeats every 1 to 2 years, or 5 years younger than the youngest person diagnosed (although the risk may vary depending on germline variant). Colectomy if colon cancer is diagnosed or if an advanced adenoma is found that cannot be otherwise removed. The preferred treatment remains colectomy with ileorectal anastomosis. Segmental colectomy may be considered in older or select patients. Follow-up surveillance with colonoscopic examination is suggested every 1 to 2 years postoperatively. Colectomy can be considered if surveillance measures cannot be followed. […]

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

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

  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. […] Aspirin reduces long-term colorectal cancer (CRC) risk by approximately 50%. Recommended doses include 150 mg ODonce daily or 300 mg ODonce daily for patients with BMIbody mass index 30. […] Women should be counselled on prophylactic hysterectomy and bilateral salpingo-oopherectomy from age 40 years (MLH1, MSH2 and MSH6 variant carriers). […] Chemoprophylaxis with daily aspirin for at least 2 years is recommended in patients 70 years old diagnosed with LS to reduce long-term CRC risk. […] Personalised systemic anticancer therapy is feasible for locally advanced or metastatic disease associated with LS, and may respond very well to relatively novel checkpoint inhibition immunotherapy.

• #50 Managing Lynch Syndrome | Lynch Syndrome Center

  https://lynchsyndromecenter.ucsf.edu/managing-lynch-syndrome

  Individuals with Lynch syndrome are recommended to begin screening for colorectal cancer at a much younger age than the general population. […] Individuals with Lynch syndrome are advised to undergo colonoscopy screening every 1-2 years. […] During a colonoscopy, a physician inserts a long, flexible tube that is attached to a camera through the rectum in order to examine the internal lining of the colon and rectum for polyps (precancerous growths) or other abnormalities. Removing these polyps can reduce the risk of colon cancer. […] According to the NCCN guidelines, upper endoscopy GI surveillance with EGD starting at age 30-40 years and repeated every 2-4 years is recommended. […] Although women with Lynch syndrome are at an increased risk of developing uterine cancer, the NCCN guidelines state that because there is no clear evidence to support screening for uterine cancer in this population.

• #51 Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK431096/

  A pelvic exam, transvaginal ultrasound, endometrial sampling, and CA-125 yearly from age 30. Abnormal uterine or vaginal bleeding warrants immediate evaluation. Hysterectomy with bilateral salpingo-oophorectomy following completion of childbearing (this recommendation may be variant-dependent). […] […] The efficacy of nonsteroidal anti-inflammatory drugs in patients with Lynch syndrome is under investigation. Data suggest aspirin use may decrease the risk of colon cancer in Lynch syndrome, but the optimal dose and duration remain uncertain. Suggested dosing includes 325 mg to 650 mg daily if tolerated, but 81 mg may be of some benefit. […] […] Patients with abnormal immunohistochemical staining or microsatellite instability whose germline testing does not reveal a mutation may have double somatic mismatch repair gene mutations in the tumor DNA or may have Lynch syndrome with incomplete penetrance. Management should be based on the patient’s personal and family history in such cases.

• #52 Managing Lynch Syndrome | Lynch Syndrome Center

  https://lynchsyndromecenter.ucsf.edu/managing-lynch-syndrome

  However, endometrial biopsy is both highly sensitive and highly specific as a diagnostic procedure and endometrial biopsy every 1-2 years starting at age 30-35 can be considered. […] Because ovarian cancers begin deep in the pelvis, they often do not cause any symptoms until they are at an advanced stage. […] The NCCN has determined that screening may be considered at the clinicians discretion. […] Some physicians choose to use both transvaginal ultrasound and the serum CA-125 test together in order to screen for ovarian cancer in women with Lynch syndrome. […] Surgeries that are performed to remove at-risk organs prior to the development of cancer are called risk-reducing (or prophylactic) surgeries. […] Some people opt to undergo risk-reducing surgery in order to prevent cancer.

• #53 Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK431096/

  A pelvic exam, transvaginal ultrasound, endometrial sampling, and CA-125 yearly from age 30. Abnormal uterine or vaginal bleeding warrants immediate evaluation. Hysterectomy with bilateral salpingo-oophorectomy following completion of childbearing (this recommendation may be variant-dependent). […] […] The efficacy of nonsteroidal anti-inflammatory drugs in patients with Lynch syndrome is under investigation. Data suggest aspirin use may decrease the risk of colon cancer in Lynch syndrome, but the optimal dose and duration remain uncertain. Suggested dosing includes 325 mg to 650 mg daily if tolerated, but 81 mg may be of some benefit. […] […] Patients with abnormal immunohistochemical staining or microsatellite instability whose germline testing does not reveal a mutation may have double somatic mismatch repair gene mutations in the tumor DNA or may have Lynch syndrome with incomplete penetrance. Management should be based on the patient’s personal and family history in such cases.

• #54 Managing Lynch Syndrome | Lynch Syndrome Center

  https://lynchsyndromecenter.ucsf.edu/managing-lynch-syndrome

  However, endometrial biopsy is both highly sensitive and highly specific as a diagnostic procedure and endometrial biopsy every 1-2 years starting at age 30-35 can be considered. […] Because ovarian cancers begin deep in the pelvis, they often do not cause any symptoms until they are at an advanced stage. […] The NCCN has determined that screening may be considered at the clinicians discretion. […] Some physicians choose to use both transvaginal ultrasound and the serum CA-125 test together in order to screen for ovarian cancer in women with Lynch syndrome. […] Surgeries that are performed to remove at-risk organs prior to the development of cancer are called risk-reducing (or prophylactic) surgeries. […] Some people opt to undergo risk-reducing surgery in order to prevent cancer.

• #55 Managing Lynch Syndrome | Lynch Syndrome Center

  https://lynchsyndromecenter.ucsf.edu/managing-lynch-syndrome

  In this section we will discuss screening, surgery and cancer prevention strategies. […] A diagnosis of Lynch syndrome requires vigilance in order to prevent and detect cancer at an early stage. Because Lynch syndrome is associated with an increased risk of cancer, its important to carefully follow screening guidelines and take steps to modify lifestyle and prevent cancer. […] If youve been diagnosed with Lynch syndrome, your physician and genetic counselor will likely recommend a specific screening program for you. Screening tests are tests that are designed to detect cancer prior to the presence of any symptoms. Screening for cancer helps ensure that cancer is detected in its earliest stages when it is most treatable. […] The National Comprehensive Cancer Network (NCCN) provides a set of screening guidelines for individuals with Lynch syndrome.

• #56 Lynch Syndrome Screening and Treatment Program | Massachusetts General Hospital

  https://www.massgeneral.org/cancer-center/treatments-and-services/cancer-genetics/lynch-syndrome

  The Lynch Syndrome Screening and Treatment Program provides expert and lifelong care for individuals and families affected by Lynch syndrome. […] The Lynch Syndrome Screening and Treatment Program at Mass General Cancer Center gives complete, personalized, and lifelong care for patients and families with Lynch syndrome. […] The program stays up to date on the latest scientific knowledge and national guidelines for managing Lynch syndrome. […] The Lynch Syndrome Screening and Treatment Program provides expert and lifelong care for individuals and families affected by Lynch syndrome and makes sure they get the best possible medical management and support. […] We are here to help you understand Lynch syndrome better and offer appropriate treatment and screening options. […] People with Lynch syndrome can significantly decrease their risk of developing cancer with careful medical follow-ups, which are available at the Lynch Syndrome Screening and Treatment Program at Mass General Cancer Center.

• #57 Lynch Syndrome | Symptoms & Treatment | MedStar Health

  https://www.medstarhealth.org/services/lynch-syndrome

  Not everyone with the condition will develop cancer in their lifetime. However, knowing you are a Lynch mutation carrier can help you receive early screening and regular surveillance, which aids in cancer prevention. […] At MedStar Health, we offer comprehensive services for patients with Lynch syndrome, ensuring they and their families have access to the most up-to-date information on the condition. Through our high-risk clinics, our specialists provide personalized, life-saving screening recommendations aimed to aid in early detection and cancer prevention. […] Genetic testing allows us to examine a small blood sample for genetic changes that cause Lynch syndrome. A positive test confirms that you have Lynch syndrome and should begin annual colonoscopies and surveillance, as well as additional cancer screenings. Genetic testing will also reveal the type of gene mutation you have, which may impact recommendations for preventative care and treatment.

• #58 Managing Lynch Syndrome | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/cancer-care/patient-education/managing-lynch-syndrome

  Instead of screening for ovarian cancer, talk with your healthcare provider about risk-reducing treatments. Risk-reducing treatments for ovarian cancer include: Taking a combined oral contraceptive (birth control pill with estrogen and progestin). Having a bilateral salpingo-oophorectomy (surgery to remove your ovaries and fallopian tubes). […] Its important that your healthcare team is highly experienced at managing hereditary cancer risk. MSK CATCH is a clinic for people living with a hereditary cancer syndrome such as Lynch syndrome. Our name stands for Comprehensive Assessment, Treatment, and Prevention of Cancers with Hereditary Predispositions, and were here to be your partner in managing your Lynch syndrome while helping you live your best life.

• #59 Lynch Syndrome Center | Dana-Farber Cancer Institute

  https://www.dana-farber.org/cancer-care/treatment/cancer-genetics/syndromes-genes-programs/lynch-syndrome

  Genetic counseling and testing are recommended for individuals who may be at risk for Lynch syndrome. […] If genetic testing is recommended, we will collect a blood or saliva sample from you and send it to a lab for analysis of the Lynch syndrome genes and possibly other cancer susceptibility genes. […] If you are found to have Lynch syndrome, you will receive ongoing follow-up from our care team, including regular cancer screenings such as colonoscopies. […] Our experienced clinicians will collaborate with your primary care provider, gastroenterologist, gynecologist, and other health care providers to ensure that you are getting all the cancer screening procedures you need in a timely manner. […] Our scheduling staff and Lynch syndrome nursing experts can help coordinate your multidisciplinary referrals and follow-up appointments, based on your personalized management plan.

• #60 An Essential Guide to Lynch Syndrome for Patients & Families – Lynsight

  https://lynsightlabs.com/an-essential-guide-to-lynch-syndrome-for-patients-families/

  Lynch syndrome is a hereditary condition that increases the risk of many types of cancer. […] One of the most critical steps after a positive Lynch syndrome diagnosis is to engage in genetic counseling. Genetic counselors are specialists who provide information about genetic conditions, helping you understand your risks and the implications for your family. They can guide you through genetic testing, interpret results and discuss preventive measures and screening options tailored to your specific situation. […] Additionally, seeking support from organizations dedicated to Lynch syndrome and related cancers can offer access to resources and educational materials. These organizations can help you stay informed about the latest research, treatment options and support services. […] The field of genetic research and cancer treatment is continually evolving. Staying informed about medical advancements and new testing options can help you make educated decisions about your health care and treatment options. Regularly consult with your healthcare provider to discuss new developments and how they may impact your management plan. […] Understanding the importance of informed decision-making, emotional resilience and proactive engagement with healthcare resources can help you and your family navigate this condition more effectively.

• #61 Lynch Syndrome: What Patients Need to Know – The Patient Story

  https://thepatientstory.com/medical-experts/lynch-syndrome-what-patients-need-to-know/

  Lynch syndrome is common enough that I think any young patient or any patient who has colorectal cancer, if not now but in the near future, really should be tested for this syndrome. […] Testing has become much more accessible [and] much cheaper. What we’re seeing is national guidelines shifting direction […] recommending this testing for all colon patients. […] It does [help], especially the immunotherapy part. Immunotherapy really put Lynch syndrome on the map a few years ago. […] It is incredibly important these days for patients to be tested early on, especially [with] colon, endometrial, and several other tumors, to find out whether their tumor is MSI high or looks more like Lynch syndrome versus not. […] The main thing I would caution patients [about] if they went through their primary care provider is that genetic counseling is really an integral part of this. […] There may also be others along the way. I think it’s [a] really, really exciting time. […] When you do a large panel, you have a high chance that you may find uncertain results in the Lynch genes or other genes that you don’t really know the answers to.

• #62 Lynch syndrome — Knowledge Hub

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

  individuals with Lynch syndrome should be provided with advice regarding modifiable risk factors, including diet (particularly regarding fibre and resistant starch), smoking and alcohol intake. […] Referral of affected patients to clinical genetics should be arranged to discuss onward management, family planning implications, and cascade testing of relatives at risk.

• #63 Lynch Syndrome | Cancer Australia

  https://www.canceraustralia.gov.au/impacted-by-cancer/lynch-syndrome

  If genetic testing shows that a person has a faulty mismatch repair gene, this means that he or she is at increased risk of developing Lynch syndrome-associated cancers. Regular check-ups will be recommended to look for early signs of cancer. This means that if cancer does develop, treatment can start as soon as possible. […] For some people with Lynch syndrome, surgery or other treatment may be recommended to reduce the risk of cancer. […] People who are at high risk of colorectal cancer associated with Lynch syndrome may be advised to take aspirin to reduce their risk. Hysterectomy, an operation to remove the uterus, may be advised for some women to reduce their risk of endometrial cancer. Maintaining a healthy weight, eating a healthy diet, physical activity and other lifestyle behaviours are important in reducing the risk of many cancers including those associated with Lynch syndrome.

• #64 Managing Lynch Syndrome | Lynch Syndrome Center

  https://lynchsyndromecenter.ucsf.edu/managing-lynch-syndrome

  A hysterectomy refers to surgical removal of the uterus. […] An oophorectomy is a surgical procedure to remove the ovaries, which reduces the risk of ovarian cancer. […] The best way to treat cancer is to prevent it from occurring in the first place. […] Because Lynch syndrome increases the risk of certain types of cancer, preventive strategies are of the utmost importance. […] Some research indicates that daily aspirin may be a viable preventive strategy for individuals with Lynch syndrome. […] The Cancer and Steroid Hormone Study (CASH) demonstrated that use of oral contraceptives can reduce the risk of endometrial cancer by 50%. […] While diet and exercise are not a remedy for disease, they do contribute to overall health. […] If you have Lynch syndrome and are planning to start or grow your family, there are options for preimplantation genetic diagnosis (PGD) assisted reproduction to reduce the risk of passing on this condition.

• #65 Recent Advances in Lynch Syndrome: Diagnosis, Treatment, and Cancer Prevention – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30231390/

  Identification of individuals with inherited predispositions to cancer, including Lynch syndrome, can help prevent cancer and cancer-related death by allowing for the uptake of specific cancer prevention and screening as well as the use of therapies directed toward the underlying neoplastic process for individuals with advanced cancer. […] The past few years, in particular, have brought transformative changes in the treatment of Lynch syndrome-associated cancers with immune checkpoint inhibitors. […] Last, real progress is being made to understand more sophisticated methods of precision cancer prevention, including chemotherapeutic prevention agents (e.g., aspirin) and strategies that leverage the immune system to facilitate primary cancer prevention in otherwise-healthy Lynch syndrome carriers.

• #66 Behind the Research: The Studies that Led to Trial Vaccines for People with Lynch Syndrome | Division of Cancer Prevention

  https://prevention.cancer.gov/news-and-events/news/behind-research-studies-led-trial-vaccines-people-lynch-syndrome

  Genetic research advances hold promise for defining the precise cancer risk for those with Lynch syndrome, as well as for individuals who develop sporadic colorectal cancer, experts say. The current vaccine trials are expected to inform the next steps in vaccine development and may be beneficial to a far larger population in the future.

• #67 Work starts on a cancer vaccine for people with Lynch syndrome – Cancer Research UK – Cancer Newsfacebook icontwitter iconlinkedin iconfacebook icontwitter iconinstagram iconlinkedin iconyoutube iconfundraising regulator icon

  https://news.cancerresearchuk.org/2024/09/10/lynchvax-cancer-vaccine-for-people-with-lynch-syndrome-funding/

  This helps with preventing and treating cancer, either by revealing precancerous cell changes so they can be dealt with before they develop into bowel cancer, or by helping doctors diagnose cancers in their early stages, when treatment is more likely to be successful. […] NICE also advises that people with Lynch syndrome can lower their risk of developing bowel cancer by taking aspirin daily for at least two years. […] Earlier this year, researchers in England launched the UK’s first national registry of people with Lynch syndrome to help coordinate screening and treatment and support research across the country.

• #68 Diagnosis and management of Lynch syndrome – American Gastroenterological AssociationAGA Logo_Horizontal

  https://gastro.org/clinical-guidance/diagnosis-and-management-of-lynch-syndrome/

  Advice for diagnosing and managing Lynch syndrome, the most common heritable colorectal cancer (CRC) syndrome. […] 1. In patients without a personal history of colorectal or another cancer but with a family history suggestive of Lynch syndrome, AGA suggests that risk prediction models be offered rather than doing nothing. […] 2. In patients without a personal history of colorectal or another cancer but with a family history suggestive of Lynch syndrome, AGA suggests that risk prediction models be offered rather than proceeding directly with germline genetic testing. […] 3. AGA recommends testing the tumors of all patients with colorectal cancer with either immunohistochemistry (IHC) or for microsatellite instability (MSI) to identify potential cases of Lynch syndrome versus doing no testing for Lynch syndrome.

• #69 Diagnosis and management of Lynch syndrome – American Gastroenterological AssociationAGA Logo_Horizontal

  https://gastro.org/clinical-guidance/diagnosis-and-management-of-lynch-syndrome/

  4. AGA suggests that in patients with colorectal cancer with IHC absent for MLH1, second-stage tumor testing for a BRAF mutation or for hypermethylation of the MLH1 promoter should be performed rather than proceeding directly to germline genetic testing. […] 5. AGA recommends surveillance colonoscopy (versus doing nothing) in persons with Lynch syndrome. […] 6. AGA suggests that surveillance colonoscopy should be performed every 1 to 2 years versus less frequent intervals. […] 7. AGA suggests that aspirin be offered for cancer prevention in patients with Lynch syndrome.

• #70 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

  Lynch syndrome (hereditary nonpolyposis colorectal cancer): Cancer screening and management […] 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. […] Management […] General measures […] Health maintenance — Several important measures are appropriate for all patients with Lynch syndrome including: […] Other cancer prevention strategies […] Prophylactic surgery […] Chemoprevention.

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