Materiały źródłowe

• #1 Familial adenomatous polyposis

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20372433

  Familial adenomatous polyposis (FAP) is a rare, inherited condition caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the gene from a parent. But for 25 to 30 percent of people, the genetic mutation occurs spontaneously. […] Familial adenomatous polyposis is caused by a defect in a gene that’s usually inherited from a parent. But some people develop the abnormal gene that causes the condition.

• #2 Familial Adenomatous Polyposis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538233/

  Familial adenomatous polyposis is an autosomal dominant polyposis syndrome characterized by mutations in the adenomatous polyposis coli gene. […] The primary genetic defect associated with this disorder is a germline mutation in the adenomatous polyposis coli (APC) gene. […] FAP results from mutations in the APC gene, a tumor suppressor gene located on chromosome 5, exhibiting autosomal dominant inheritance. Germline mutations, often involving nonsense mutations, typically lead to classic FAP. […] The extensive size of the APC gene results in variable genotypes and phenotypes. […] Attenuated FAP, a milder form of the disease, arises from APC gene mutations occurring at distinct codons. […] Genetic testing is recommended if colonoscopy reveals over 20 adenomatous polyps or if FAP-associated cancers are detected in a patient. […] FAP is primarily caused by germline mutations in the APC gene, located on chromosome 5q21-22. […] If left untreated, FAP almost invariably progresses to colorectal cancer.

• #3 Familial Adenomatous Polyposis (FAP): Symptoms, Diagnosis, Risks

  https://my.clevelandclinic.org/health/diseases/16993-familial-adenomatous-polyposis-fap

  Familial adenomatous polyposis is a genetic disorder that predisposes you to develop precancerous colon polyps called adenomas. […] The main cause of familial adenomatous polyposis is caused by a gene mutation. The gene is called adenomatous polyposis coli, or APC. […] The gene mutation that causes FAP is a germline mutation, which means it occurs during conception, not during your lifetime. […] If one of your parents has the mutation, you have a 50% chance of inheriting it. However, up to 30% of these mutations are original, not inherited.

• #4 Familial Adenomatous Polyposis | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/familial-adenomatous-polyposis

  Familial adenomatous polyposis (FAP) is a hereditary cancer predisposition syndrome characterized by the development of hundreds of gastrointestinal polyps in the small and large intestines. […] FAP, also known as APC-associated polyposis condition, is hereditary. The risk of developing the features associated with the condition can be passed from generation to generation in a family. […] FAP is caused by an alteration, also known as a mutation, of the adenomatous polyposis coli (APC) gene on chromosome 5 at position q21. Alternatively, all or part of the FAP gene may be deleted. The condition can be inherited or caused by random mutations during prenatal development. […] The role of the APC gene is to produce a protein that helps regulate cell growth, division and cell death. When one or both copies of the APC gene are altered within a cell, such as those that line the intestines, the affected cell(s) may divide in an uncontrolled fashion and acquire additional genetic alterations. If this occurs, abnormal cells may accumulate and develop into polyps and, ultimately, colon cancer.

• #5 Familial Adenomatous Polyposis – What You Need to Know

  https://www.drugs.com/cg/familial-adenomatous-polyposis.html

  FAP is a rare, genetic condition. A genetic condition is one that you are born with. FAP is caused by a problem with a specific gene. The gene can be passed from a parent to a child. […] The type is based on how the gene is inherited and the number of adenomatous polyps that form.

• #6 Familial adenomatous polyposis – Wikipedia

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

  Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. […] The root cause of FAP is understood to be a genetic mutationa change in the body’s tumour suppressor genes that prevent development of tumours. […] Three variants are known to exist, FAP and attenuated FAP are caused by APC gene defects on chromosome 5 while autosomal recessive FAP (or MUTYH-associated polyposis) is caused by defects in the MUTYH gene on chromosome 1. […] A genetic blood test of the APC gene exists that can determine whether it is present, and therefore can predict the possibility of FAP. […] Mutation of APC also occurs commonly in incident cases of colorectal carcinoma, emphasizing its importance in this form of cancer.

• #7 Familial Polyposis Treatment in the Denver, CO Area

  https://www.rockymountaingastro.com/services/familial-polyposis-fap/

  Familial Adenomatous Polyposis (FAP) is a genetic condition that causes the development of multiple polyps in the colon and rectum. […] FAP is caused by an inherited gene mutation that affects the APC gene. This gene normally suppresses tumor growth, but in individuals with FAP, the mutation prevents the APC gene from functioning correctly, leading to the development of polyps. […] FAP is an autosomal dominant condition, meaning that an individual only needs to inherit one copy of the mutated gene to develop the condition.

• #8 Familial adenomatous polyposis (FAP) – diagnosis, surgery | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/worried-about-cancer/causes-and-risk-factors/familial-adenomatous-polyposis-fap

  FAP is a rare condition that can run in families. If not treated, FAP causes a high risk of bowel cancer. […] FAP causes hundreds or thousands of small growths in the large bowel. These are called polyps or adenomas. They usually start to appear when a person is in their teens. […] If the polyps are not treated, 1 or more of them will almost certainly develop into cancer. This usually happens by the age of 40. […] People with FAP have a variant in a gene called the APC gene. […] If 1 parent has an APC gene variant, you will get either the copy containing it or the copy that does not. There is a 1 in 2 (50%) chance the gene variant is passed on. […] About 1 in 5 people with FAP (20%) are the first in their family to have the gene variant. This means your parents did not have it. Any children you have will still have a 1 in 2 (50%) chance of inheriting it from you. […] There are different APC gene variants that cause FAP. Many, but not all, of them carry a very high risk of bowel cancer. […] Without surgery to remove the large bowel, most people affected by FAP will develop bowel cancer.

• #9 Familial Adenomatous Polyposis | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/familial-adenomatous-polyposis

  The APC gene mutation is inherited in an autosomal dominant fashion, meaning that a person carrying a mutation in one copy of the APC gene has a 50 percent chance of passing this same alteration onto each of their future children. […] Approximately 70 percent of patients with FAP inherit an altered copy of the APC gene from a parent who also has FAP. In the remaining 30 percent of patients, FAP results from the occurrence of a new mutation in the APC gene in one of the fathers sperm, mothers eggs or in a cell of the developing fetus.

• #10 Clinical manifestations and diagnosis of familial adenomatous polyposis – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-familial-adenomatous-polyposis

  Familial adenomatous polyposis (FAP) is typically characterized by the presence of multiple colorectal adenomatous polyps (typically more than 100). […] This topic will review the genetics, clinical manifestations, and diagnosis of FAP and its variants (attenuated FAP [AFAP], and gastric adenocarcinoma and proximal polyposis of the stomach [GAPPS]), all of which are due to a germline mutation (ie, pathogenic variant) in the Adenomatous Polyposis Coli (APC) gene. […] Familial adenomatous polyposis (FAP) and its variants are caused by germline pathogenic variants in the tumor suppressor gene, APC, located on chromosome 5q21-q22. […] FAP follows an autosomal dominant pattern of inheritance with nearly complete penetrance of colonic polyposis but variable penetrance of the extracolonic manifestations of the disease. Up to 25 percent of FAP cases are due to new or de novo APC mutations.

• #11 Clinical manifestations and diagnosis of familial adenomatous polyposis – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-familial-adenomatous-polyposis/print

  Familial adenomatous polyposis (FAP) is typically characterized by the presence of multiple colorectal adenomatous polyps (typically more than 100). […] Familial adenomatous polyposis (FAP) and its variants are caused by germline pathogenic variants in the tumor suppressor gene, APC, located on chromosome 5q21-q22. […] FAP follows an autosomal dominant pattern of inheritance with nearly complete penetrance of colonic polyposis but variable penetrance of the extracolonic manifestations of the disease. Up to 25 percent of FAP cases are due to new or de novo APC mutations.

• #12 Familial Adenomatous Polyposis | Columbia Surgery

  https://columbiasurgery.org/conditions-and-treatments/familial-adenomatous-polyposis

  Familial Adenomatous Polyposis (FAP) is an inherited condition in which non-cancerous polyps (small growths, usually benign, protruding from the lining of human tissue) grow in the colon and rectum. The polyps can become cancerous over time, resulting in colorectal cancer. […] FAP is caused by a mutation of the adenomatous polyposis coli (APC) gene. […] FAP is the result of changes to the DNA, which results in the APC gene being unable to do its job of suppressing tumors. Because of the mutations in the APC gene, rectal and colon polyps grow out of control. […] The APC gene mutation that causes FAP is usually inherited from a parent, but in some people the mutation can occur spontaneously. When it is inherited from a parent, it is passed on in an autosomal dominant manner, meaning that the child of someone with FAP has a 50% chance of inheriting the mutated gene from their parent.

• #13 Familial Adenomatous Polyposis: Symptoms, Causes, Treatment

  https://www.healthline.com/health/colorectal-cancer/familial-adenomatous-polyposis

  Familial adenomatous polyposis (FAP) is caused by a genetic mutation in the APC gene. […] About 10% to 30% of people develop FAP due to spontaneous mutations in this gene without a family history. […] FAP usually requires the removal of part or all of your large intestines. […] If left untreated, it almost always leads to colorectal cancer at a relatively young age. […] People with FAP almost always develop colon cancer in their 30s or 40s if they don’t receive surgery to remove part or all of their colon.

• #14 Expert explains familial adenomatous polyposis

  https://medicalxpress.com/news/2023-09-expert-familial-adenomatous-polyposis.html

  Among the risk factors that can increase your risk of colorectal cancer are certain genetic syndromes, including familial adenomatous polyposis. This is a rare condition caused by a defect in the adenomatous polyposis coli gene. Most people inherit the gene from a parent, but for 25% to 30% of people, the genetic mutation occurs spontaneously. […] Familial adenomatous polyposis is caused by a defect in a gene that’s usually inherited from a parent. But some people develop the abnormal gene that causes the condition. Your risk is higher if you have a parent, child, brother or sister with the condition. […] Preventing familial adenomatous polyposis is not possible, since it is predominantly an inherited genetic condition. However, if you or your child are at risk because of a family member with the condition, you will need genetic testing and counseling. […] A blood test can determine if you carry the abnormal gene that causes familial adenomatous polyposis. Ruling it out spares at-risk children years of screening and emotional distress. For children who carry the gene, appropriate screening and treatment greatly reduces the risk of cancer.

• #15 Familial adenomatous polyposis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-22

  Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP is a genetic disorder resulting from a mutation in the adenomatous polyposis gene (APC) gene. Classic FAP is inherited as an autosomal dominant trait and results from a germline APC mutation; AFAP is mostly caused by specific APC mutations. Most FAP patients have a family history of colorectal polyps and cancer, however, 25-30% of them are „de novo”, without clinical or genetic evidence of FAP in family members. It is now recognized that this can be partially explained by being the result of germline mosaicism. More than 300 different types of mutations are recognized today as the cause of FAP. Most of these mutations (insertions, deletions, nonsense mutations, etc.), result in a truncated protein. The most common mutation, occurring in about 10% of FAP patients, is a deletion mutation in codon 1309, the next most common, occurring in 5% of the patients, is a deletion at codon 1061. Loss of normal APC function is known to be an early event in both familial and sporadic colon cancer pathogenesis, occurring at the pre-adenoma stage. The genetically manipulated mouse model provides an excellent in-vivo system of human diseases and an opportunity to test therapies. FAP is caused by a highly heterogeneous spectrum of point mutations and this represents a problem for molecular genetic diagnosis; all the mutations are chain terminating. Mutations typically cluster in, or just distal, to the armadillo repeat region and truncate near the middle of the protein.

• #16 Familial Adenomatous Polyposis: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/175377-overview

  Familial adenomatous polyposis (FAP) is caused by a germline mutation of the APC tumor suppressor gene, located on band 5q21. Most mutations of the APC gene are nonsense or frameshift mutations, leading to truncation of the APC protein (nonfunctional protein). […] More virulent forms of FAP are associated with a mutation in exon 15 between codons 1250 and 1464, the middle portion of the gene. […] In patients with AAPC, mutations of the APC gene occur at the extreme amino terminus of the protein.

• #17 Familial Adenomatous Polyposis: Causes, Symptoms, Treatments, and More

  https://resources.healthgrades.com/right-care/colon-cancer/familial-adenomatous-polyposis

  Familial adenomatous polyposis (FAP) is a rare inherited condition that causes colorectal polyps to develop. The polyps are likely to become cancerous. […] FAP results from a mutation in the APC gene, which causes an overgrowth of cells. These cells become colon polyps. […] The condition is passed down in an autosomal dominant pattern. This means that only one biological parent has to have the mutated gene in order to pass it to a child. […] The location of the mutation in the gene influences which type of FAP develops and how the condition manifests.

• #18 Familial Adenomatous Polyposis (FAP) | Know Your Biomarker

  https://www.knowyourbiomarker.org/biomarkers/familial-adenomatous-polyposis

  Familial adenomatous polyposis (FAP) is an inherited syndrome of a very high risk of colorectal cancer (bowel cancer). […] Classic FAP and attenuated FAP are caused by mutations in the APC (adenomatous polyposis coli) gene. […] Classic and attenuated familial adenomatous polyposis are inherited in an autosomal dominant pattern. This means that inheriting one abnormal (mutant) copy of the APC gene from either parent will cause the disease. […] MYH-associated FAP is caused by mutations in the MYH gene. […] MYH-associated FAP is inherited in an autosomal recessive pattern. This means that the disease is caused by inheriting two abnormal (mutated) copies of the MYH gene, one from each parent. […] The APC gene is involved in maintaining normal cell growth. When a mutation disrupts that function, abnormal growth occurs leading to these colon polyps and rectal polyps.

• #19 Colorectal Cancer Risk Factors | Hereditary Colorectal Risk Factors | American Cancer Society

  https://www.cancer.org/cancer/types/colon-rectal-cancer/causes-risks-prevention/risk-factors.html

  FAP is caused by changes (mutations) in the APC gene that a person inherits from their parents. About 1% of all colorectal cancers are caused by FAP. […] In the most common type of FAP, hundreds or thousands of polyps develop in a persons colon and rectum, often starting at ages 10 to 12. Cancer usually develops in 1 or more of these polyps as early as age 20. By age 40, almost all people with FAP will have colon cancer if their colon hasnt been removed to prevent it. People with FAP also have an increased risk for cancers of the stomach, small intestines, pancreas, liver, and some other organs. […] There are 3 sub-types of FAP: In attenuated FAP or AFAP, patients have fewer polyps (less than 100), and colorectal cancer tends to occur at a later age (40s and 50s). […] Gardner syndrome is a type of FAP that also causes noncancerous tumors of the skin, soft tissue, and bones. […] In Turcot syndrome, people who have APC gene mutation are at a high risk of having many adenomatous polyps and colorectal cancer, but also a specific type of brain cancer called medulloblastoma.

• #20 Familial adenomatous polyposis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/

  Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. […] Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. […] Mutations in the MUTYH gene cause autosomal recessive familial adenomatous polyposis (also called MUTYH-associated polyposis). Mutations in this gene prevent cells from correcting errors that are made when DNA is copied (DNA replication) in preparation for cell division. As these errors build up in a person’s DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer.

• #21 Familial Adenomatous Polyposis (FAP) | Know Your Biomarker

  https://www.knowyourbiomarker.org/biomarkers/familial-adenomatous-polyposis

  MYH (also known as MUTYH) is a gene involved with repairing DNA damage in cells. When MYH is mutated, cells are unable to repair DNA damage and mutations build up in genes that lead to abnormal cell growth and polyps. […] In addition to large intestine (colorectal) tumors, patients with all three types of FAP (classic FAP, attenuated FAP, and MYH-associated polyposis) are at increased risk for other gastrointestinal tract cancers, including cancer of the stomach (gastric) and small intestine (small bowel), especially the duodenum. […] FAP is also associated with higher risk of cancer of the pancreas, liver (hepatic) and bile duct cancer, adrenal gland tumors, thyroid cancer, and some central nervous system tumors, especially brain medulloblastoma. […] These risks vary by the location of the mutation in the APC gene.

• #22 Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01585-z

  In 1991, heterozygous pathogenic variants (PV) in adenomatous polyposis coli (APC) were identified as the cause of FAP, explaining the autosomal dominant inheritance pattern observed in families. […] Recent advances in genetic sequencing technology, such as next-generation sequencing (NGS), have helped to identify several novel causes for hereditary adenomatous polyposis. […] The Danish Polyposis Registry was founded in 1971 and all patients diagnosed with FAP (of known genetic etiology) or colorectal polyposis (CP) of unknown genetic etiology are systematically registered. […] Our study also demonstrates that CP can have genetic causes other than PV in APC. Thus, we detected PV in MUTYH, NTHL1, and POLE. […] We found that the variant detection frequency was over 90% in families in the National Register; however, there is still a small proportion of patients with CP whose PV was not detected despite our considerable efforts. […] APC mosaicism that cannot be detected using the aforementioned analyses is another possible explanation for unsolved cases.

• #23 Adenomatous polyposis syndromes – InSiGHT

  https://www.insight-group.org/syndromes/adenomatous-polyposis/

  Familial adenomatous polyposis, due to mutation in the APC gene, was the first adenomatous polyposis syndrome described. […] FAP is caused by constitutional mutations in the APC gene, which encodes APC, a key component of the wnt signalling pathway, has a prevalence of about 1/8,500. […] Attenuated FAP (AFAP), when patients develop anywhere from 0 to 100+ adenomas, can also be due to particular mutations in APC. […] FAP is caused by dominantly inherited mutations in APC. […] Mutations causative of FAP and AFAP are essentially all truncating or nulling. […] MAP predisposes to colorectal adenomas and carcinoma, the numbers of adenomatous polyps being in the tens to hundreds, rather than hundreds to thousands as seen in FAP, so it overlaps clinically with FAP and attenuated FAP (AFAP) due to APC mutation.

• #24 Adenomatous polyposis syndromes – InSiGHT

  https://www.insight-group.org/syndromes/adenomatous-polyposis/

  It is caused by the recessive inheritance of biallelic mutations in MUTYH, which encodes mutY-homologue, a component of the oxidative DNA damage repair pathway. […] NTHL1 is a counterpart of MUTYH in oxidative DNA damage repair, and mutations in NTHL1 can also cause a recessive form of adenomatous polyposis. […] Individuals with CMMR-D can develop multiple colorectal adenomas, and so in this way resemble MAP and NAP patients. […] Individuals with dominantly inherited mutations in the DNA polymerases POLD1 and POLE can also develop adenomatous polyposis. […] Most recently, recessive inheritance of mutations in MSH3 has been found in patients with adenomatous polyposis.

• #25 Hereditary Colon Polyposis | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/cancer-care/risk-assessment-screening/genetic-counseling-and-testing/hereditary-cancer-genes-and-hereditary-cancer-syndromes/hereditary-colon-cancer-and-polyposis

  Importantly, the APC I1307K gene mutation does not cause FAP or AFAP. […] MAP is another inherited condition that can result in a large number of polyps. It is caused by mutations in both copies of the MUTYH gene. […] If both parents carry MUTYH mutations, there is a 25% chance that each of their children will inherit two MUTYH gene mutations and, therefore, have a risk of developing MAP. […] People who have only one MUTYH mutation are called carriers. They may have a slightly increased risk of developing colorectal polyps or cancer, particularly if there is a history of colon cancer in your family. […] POLD1 and POLE gene mutations are associated with an increased risk for colon polyps and colorectal cancer. […] GREM1 gene mutations are most common in individuals of Ashkenazi Jewish ancestry and cause an increased risk for various types of colon polyps and colorectal cancer.

• #26 Pathology Outlines – Familial adenomatous polyposis, classic

  https://www.pathologyoutlines.com/topic/colontumorFAP.html

  Autosomal dominant familial polyposis syndrome due to a defect in the APC gene (5q21) which prototypically results in numerous (> 100) colonic adenomatous polyps […] Most frequent genetic polyposis syndrome, which is due to a germline mutation in the APC gene (5q21) […] APC (adenomatous polyposis coli) is a tumor suppressor gene involved in cell cycle control and downregulation of beta catenin through the Wnt signaling pathway […] APC mutations may cause expansion of the crypt base cell population, including crypt stem cells […] When APC is mutated, beta catenin is no longer downregulated and can function to stimulate cell growth […] As explained by the 2 hit hypothesis, patients with a germline APC mutation develop adenomatous polyps when there is inactivation of the remaining normal APC allele

• #27 Familial adenomatous polyposis – Gastroenterology | Northwell Health

  https://www.northwell.edu/gastroenterology/conditions/familial-adenomatous-polyposis

  Familial adenomatous polyposis (FAP) is also known as familial polyposis coli, adenomatous polyposis coli or Gardner syndrome. Mutations in a tumor suppressor gene called APC, located on chromosome five, causes most cases of FAP. The APC gene is a tumor suppressor gene, which usually has the job of controlling cell growth and cell death. […] When a person has an altered, or mutated, APC gene, their risk of developing polyps and risk of cancer increases. […] Without intervention, nearly all people who have a mutation in the APC gene that causes the classic form of FAP will develop colorectal polyps by age 40 or 50. […] Both copies of a tumor suppressor gene must be altered, or mutated, before a person will develop polyps or cancer. In FAP, the first mutation is usually inherited from either the mother or the father and is therefore present in all cells of the body. This is called a germline mutation.

• #28 Pathology Outlines – Familial adenomatous polyposis, classic

  https://www.pathologyoutlines.com/topic/colontumorFAP.html

  Hereditary colorectal cancer syndromes are usually due to defect in APC gene at 5q21 […] Polyposis patients without APC mutations often have mutations in MYH gene […] Autosomal dominant trait with high degree of penetrance (> 90%) […] 20% represent a new de novo APC mutation without family history.

• #29 Familial Adenomatous Polyposis | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/genetic-syndromes/familial-adenomatous-polyposis.html

  Familial adenomatous polyposis is hereditary, which means it can be passed from parents to their children. […] FAP is caused by changes in the gene APC. This gene helps control how cells grow and divide. […] Cells from people with FAP carry 1 working copy of APC and 1 copy that is changed. This change causes the gene to not work right. It is called an APC mutation. […] Most children with FAP inherit the APC gene mutation from a parent who also has FAP. About 20-25% of people with FAP have a new APC mutation that did not come from a parent. […] No matter how the APC gene changed, people with FAP have up to a 50% (1 in 2) chance of passing it on to their children. […] As people with FAP get older, the remaining working copy of APC often changes within some of their cells. When both copies of the gene change, polyps and eventually cancer can develop. That is why people with FAP have a higher risk of developing cancer than people who do not have FAP.

• #30 What is familial adenomatous polyposis?

  https://www.yourgenome.org/theme/what-is-familial-adenomatous-polyposis/

  Familial adenomatous polyposis is an inherited genetic condition that makes people more likely to develop early-onset colorectal cancer and some other cancer types. […] Familial adenomatous polyposis is caused by mutations in the adenomatous polyposis coli (APC) gene, found on chromosome 5. Scientists have identified many mutations in APC that can cause familial adenomatous polyposis. […] A mutation in the APC gene can affect the ability of a cell to maintain normal growth and function. This can cause them to grow out of control. […] Although these polyps are not initially cancerous, they have a high risk of developing a mutation in the second copy of their APC gene, causing them to become cancerous. […] Most people with mutations in one or both copies of the APC gene will develop colorectal cancer in their lifetime. However, the number of polyps and time frame in which they become cancerous depends on the specific mutation.

• #31 Familial adenomatous polyposis – Gastroenterology | Northwell Health

  https://www.northwell.edu/gastroenterology/conditions/familial-adenomatous-polyposis

  In order for a benign polyp to become malignant (cancerous), the polyp must acquire mutations in several additional growth control genes. Loss of both copies of APC is just the first step in the process of cancer development. What causes these additional mutations to be acquired is unknown. Possible causes include chemical, physical or biological environmental exposures or chance errors in cell replication.

• #32 Managing familial adenomatous polyposis (FAP): new approaches | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/new-approaches-to-managing-familial-adenomatous-polyposis–fap.h00-159537378.html

  Familial adenomatous polyposis increases colorectal cancer risk. A hereditary genetic condition called familial adenomatous polyposis (FAP) causes an individual to grow hundreds, and sometimes thousands, of polyps throughout the gastrointestinal tract. People who carry the FAP genetic mutation have an increased risk for cancer, including thyroid cancer and a malignant soft tissue sarcoma called desmoid tumors. But the greatest risk is colorectal cancer. […] Although the genetic mutation is rare and only makes up for 1% of colorectal cancer cases, patients with FAP have a 100% likelihood of developing colorectal cancer by age 30, Vilar-Sanchez says. Individuals without a genetic mutation have a 5% likelihood of facing the same diagnosis in their lifetime.

• #33 Familial Multiple Polyposis: Causes, Symptoms, and Treatment Options • Yesil Health

  https://yesilhealth.com/your-health/familial-multiple-polyposis-causes-symptoms-and-treatment-options/

  Without treatment, the risk of colon cancer is almost 100% by age 40. Early detection and treatment can significantly reduce this risk. […] Yes, FAP is an autosomal dominant disorder, which means that a single copy of the mutated APC gene is enough to cause the condition. This means that each child of an affected parent has a 50% chance of inheriting the condition.

• #34 Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations – PubMed

  https://pubmed.ncbi.nlm.nih.gov/31070935/

  Familial adenomatous polyposis (FAP) is a rare genetic disorder with autosomal dominant inheritance, defined by numerous adenomatous polyps, which inevitably progress to colorectal carcinoma unless detected and managed early. […] Recent studies, however, correlate the severity of gastrointestinal disease and the prominence of extraintestinal findings to specific mutations within the adenomatous polyposis coli gene (APC), supporting a spectrum of disease as opposed to subcategorization. […] Advances in immunohistochemical and molecular techniques shed new light on the origin, classification, and progression risk of different entities associated with FAP.

• #35 Familial Adenomatous Polyposis | SpringerLink

  https://link.springer.com/chapter/10.1007/978-1-60327-161-5_69

  Germline mutations in the adenomatous polyposis coli gene (APC) cause the most common form of hereditary polyposis syndromes termed familial adenomatous polyposis (FAP). The incidence is approximately one in 8300 to one in 13,000 live births. […] Mutations in the APC tumour suppressor gene cause chromosomal instability. […] Correlation between the location of germline mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis.

• #36 Hereditary Colorectal Cancer Syndromes: Familial Adenomatous Polyposis (FAP) | University Hospitals

  https://www.uhhospitals.org/health-information/health-and-wellness-library/article/Adult-Diseases-and-Conditions-v0/familial-adenomatous-polyposis-fap

  Familial adenomatous polyposis (FAP) is a rare condition where a person has a large number of noncancer (benign) polyps in the colon and rectum. […] Causes hundreds to thousands of benign polyps to grow in the colon and rectum. (This is called polyposis.) […] If not treated, a person with FAP has a 100% risk of developing colorectal cancer, often by age 40. […] Is most often inherited from a mother or father with the disorder. […] Leads to an increased risk of many other health problems, such as: […] Is linked to an increased risk of thyroid, adrenal gland, small bowel, pancreatic, bile duct, and stomach cancers. […] Changes (mutations) in a gene called APC cause most cases of FAP. […] When a person has a mutated APC gene, their risk of having polyps and their risk of cancer increases. […] Mutations in 3 certain parts of the APC gene have been linked to AFAP. […] One APC mutation, called I1307K, is present in about 6% of the American Ashkenazi Jewish population. This mutation is linked to a 10% to 20% risk of colorectal cancer.

• #37 Familial Adenomatous Polyposis and the APC gene – Sydney Cancer Genetics

  https://www.sydneycancergenetics.com.au/genes-and-syndromes/familial-adenomatous-polyposis-and-the-apc-gene/

  Familial Adenomatous Polyposis (FAP), as the name suggests, causes polyps. It affects 1 in 7,000 to 1 in 22,000 people. […] Before it was known that germline (heritable) mutations in the APC gene were responsible for FAP, Familial Adenomatous Polyposis syndrome was known by other names, based on the clinical features. […] A particular mutation in the APC gene, written APC c.3920TA p.(Ile1307Lys), is common in people of Ashkenazi Jewish descent. Rather than switching on the APC gene and causing multiple polyps to grow, this mutation increases the chance that more mistakes will occur in the APC gene itself in bowel cells over time (somatic mutations). It occurs in 6 to 11% of individuals with Ashkenazi heritage. […] Yes. Familial Adenomatous Polyposis syndrome is a hereditary cancer syndrome. There is a 50% chance of a person who carries a germline APC mutation, whether male or female, passing the mutation to their son or daughter. If a mutation is identified, then predictive testing is available for blood relatives. This testing is Medicare funded.

• #38 Age and manifestation related symptoms in familial adenomatous polyposis | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-5-24

  Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease and is caused by germline mutations in the adenomatous polyposis coli gene (APC) in chromosome 5q21. Somatic mutations of the APC gene occur in about 80% of sporadic colorectal cancers. The APC germline mutation has a penetrance which is close to 100%. Untreated, the disease usually leads to the appearance of hundreds of adenomatous polyps in the colorectum between puberty and age 20 and to cancer by the early forties at the latest which is the most frequent reason for death in patients with FAP. […] According to the literature, new mutations occur in 25% of all FAP cases and this predominantly young patient population is burdened with a high risk of colorectal cancer.

• #39 Understanding the Genetics of Familial Adenomatous Polyposis (FAP) – GenepoweRx

  https://genepowerx.com/understanding-the-genetics-of-familialadenomatous-polyposis-fap/

  Familial Adenomatous Polyposis (FAP) is a rare, inherited condition that affects the gastrointestinal tract. […] It is caused by a defect in the gene called the adenomatous polyposis coli (APC) gene. […] It is mostly inherited directly from a parent, but there is a 25 to 30% chance that it develops due to a genetic mutation. […] FAP causes polyps to form in the large intestine (colon) and rectum, it can sometimes occur in the upper part of the small intestine (duodenum). […] The cancer risk for people with Turcot syndrome depends on whether it resembles Lynch syndrome or FAP. […] Cancer risk in FAP and AFAP can be reduced by removing colorectal and duodenal polyps.

• #40 Familial Adenomatous Polyposis – Genetic Syndromes Associated With Colorectal Cancer – Colorectal Polyps and Genetic Syndromes Associated With Colorectal Cancer – Intestinal Diseases – Gastrointestinal Diseases – Gastroenterology – Diseases – McMaster T

  https://empendium.com/mcmtextbook/chapter/B31.II.4.72.6.5.2.

  Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by a germline mutation in the APC gene (chromosome 5). […] In the classic form of the disease, the large intestine of the patient has 1000 adenomatous polyps and the risk of developing colorectal cancer during a lifetime is 100%. […] In the mild form (attenuated familial adenomatous polyposis [AFAP]), patients have fewer polyps (10-100) and the risk of cancer is lower. […] FAP is also associated with an increased risk of developing other cancers including duodenal periampullary adenocarcinoma, thyroid cancer, central nervous system tumors (ie, Turcot syndrome), and hepatoblastoma in children.

• #41 Familial adenomatous polyposis – Libre Pathology

  https://librepathology.org/wiki/Familial_adenomatous_polyposis

  Familial adenomatous polyposis, abbreviated FAP and also known as familial polyposis coli and adenomatous polyposis coli, is a genetic condition that predisposes to adenomatous polyps and thus invariably results in colorectal cancer. […] Both FAP and Gardner syndrome have a mutation in the APC gene. […] APC gene mutation. […] FAP comes in two main flavours: FAP (not otherwise specified – the plain vanilla flavour). […] Attenuated FAP, abbreviated AFAP. […] As one may think… they tend to get cancer later than (the plain vanilla) FAP. […] FAP with prominent extraintestinal manifestations – including: Osteomas. […] Desmoid tumours. […] The term is somewhat ambiguous and probably ought to be avoided: Half et al. says Turcot syndrome is FAP associated with a medulloblastoma… while OMIM says Turcot syndrome is tied to Lynch syndrome and autosomal recessive. […] Malignant tumours: Hepatoblastoma. […] Colorectal carcinoma. […] Gastric adenocarcinoma. […] Papillary thyroid carcinoma cribriform-morular variant.

• #42 Familial Adenomatous Polyposis Genetic Testing | FAP | Ambry Genetics

  https://www.ambrygen.com/providers/genetic-testing/131/oncology/familial-adenomatous-polyposis-fap

  Familial adenomatous polyposis is a colorectal cancer predisposition syndrome characterized by hundreds to thousands of adenomatous polyps in the gastrointestinal tract. […] Prevalence of APC mutations among those with polyposis depends on the phenotype. […] Detection rates are highest in those with classic FAP and those with a family history of polyposis (clinical sensitivity). Ambry’s APC analysis can detect 99.9% of described mutations in the gene, when present (analytic sensitivity).

• #43 Familial Adenomatous Polyposis (FAP) | MUSC Health | Charleston SC

  https://muschealth.org/medical-services/ddc/patients/digestive-diseases/colon-and-rectum/familial-adenomatous-polyposis

  Familial Adenomatous Polyposis is an inherited condition, primarily affecting the colon and rectum. […] The abnormal gene that causes FAP in most patients is now known. […] A blood test can be performed to find out whether or not a person who is the child of an individual with FAP has the abnormal gene and will eventually develop FAP. […] However, an abnormal gene can not be detected in some FAP families.

• #44 Patient Information Library

  https://www.library.wmuh.nhs.uk/pil/westmid%20FAP.htm

  FAP is characterised by the presence of hundreds or thousands of adenomatous polyps in the colons of affected individuals, which often start in adolescence. Cancerous polyps are very common in this condition, usually by age 40, without active management of the polyps and screening on a regular basis. […] Testing for mutation of the APC gene currently detects 95% of mutations present.

• #45 Familial Adenomatous Polyposis | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/familial-adenomatous-polyposis/

  Familial adenomatous polyposis (FAP) is a rare genetic condition that causes polyps (growths) in the gastrointestinal tract (intestine and colon). These polyps, called adenomas, begin in early childhood. If the polyps are not treated, they can lead to colon cancer. […] FAP is a genetic condition that is usually passed down through families. About 25% of people who have FAP do not have a family history of the disease. The condition can also be associated with genetic syndromes such as Gardners syndrome and Turcot syndrome. FAP occurs in approximately 1 in 10,000 people. Males and females are affected equally. […] If you have FAP, your childs doctor may recommend genetic testing to look for the genetic change that causes the condition. […] We diagnose FAP based on several factors, including a family history of FAP and/or colon cancer. We also diagnose FAP in children who have 100 or more polyps in the intestine or fewer than 100 polyps and a family history of the disease.

• #46 Familial Adenomatous Polyposis | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/familial-adenomatous-polyposis/

  We treat FAP with a combination of several therapies. Your childs doctor removes polyps during a colonoscopy. If any of the polyps are cancerous or if there are many polyps, we may recommend surgical removal of part or all of the colon (colectomy). This surgery is usually performed in the late teens or early 20s as a preventative measure against colon cancer later in life. […] Children who have FAP need long-term follow-up care and imaging tests for the rest of their lives to prevent colon cancer.

• #47 Familial Adenomatous Polyposis – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/familial-adenomatous-polyposis/?utm_source=pubmedlink&utm_campaign=MDS&utm_content=21606

  FAP, or Familial Adenomatous Polyposis, is a condition passed down through families that causes growths, known as polyps, to form in the colon. These polyps raise the risk of developing colon cancer and can also show up in other parts of the body. […] With these regular check-ups and potential surgery, people who have FAP can greatly lower their chances of getting colorectal cancer and other related cancers.

• #48 Familial Adenomatous Polyposis (FAP) | Know Your Biomarker

  https://www.knowyourbiomarker.org/biomarkers/familial-adenomatous-polyposis

  If you have familial adenomatous polyposis, talk to your oncology team about screening and prevention of other FAP associated cancers. […] Because FAP is inherited, it is critical that your biological family members know about your FAP diagnosis and have their own genetic testing. […] All colorectal cancer patients with more than 20 cumulative adenomatous polyps (precancerous growths in the colon and rectum) should be tested for FAP.

• #49 Familial Adenomatous Polyposis and the APC gene – Sydney Cancer Genetics

  https://www.sydneycancergenetics.com.au/genes-and-syndromes/familial-adenomatous-polyposis-and-the-apc-gene/

  In individuals with Familial Adenomatous Polyposis syndrome, 20% of the time, they are the first person in their family to carry an APC mutation. This is called a de novo mutation, meaning „from new”. That is, the mutation occurred either in the making of that particular sperm or egg or the first few cell divisions after fertilisation. In this situation, the parents are not affected but the mutation can be passed on to the next generation.

• #50 Familial adenomatous polyposis – Overview of Information and Clinical Research

  https://clinicaltrials.eu/disease/familial-adenomatous-polyposis/

  The clinical trial titled “Safety study for the use of Rapamycin in children with familial adenomatous polyposis – RAPA-4-FAP” is a Phase II therapeutic exploratory study conducted in France. This trial investigates the safety and efficacy of Rapamune (rapamycin) 2 mg coated tablets in children diagnosed with FAP. […] This Phase II trial is a significant step in exploring the potential of rapamycin as a treatment option for children with familial adenomatous polyposis. By focusing on both safety and efficacy, the study aims to provide valuable insights into the management of this hereditary condition, potentially offering a new therapeutic avenue for affected individuals.

• #51 Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg201420

  Colorectal cancer (CRC) risk is well defined for families of patients with classical familial adenomatous polyposis (FAP). However, the risk for those with an attenuated form of FAP is less well characterised. […] In this study, we identified a novel germline APC mutation present in seven families from the Tayside region of Scotland with a presentation of autosomal dominant late-onset CRC. […] This study has identified a novel APC germline mutation associated with an attenuated form of FAP that manifests as autosomal dominant late-onset CRC, which is not easily identified with current risk stratification strategies. […] Furthermore, we have presented age-dependent penetrance data for CRC in APC:c.288TA mutation carriers. Pedigrees such as those in our study may account for a proportion of late-onset high penetrance CRC families not accounted for by HNPCC mutations. These findings suggest that there is a subgroup of individuals with dominantly inherited CRC risk that requires new criteria for identification and surveillance.

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