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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the APC gene cause FAP. The APC gene provides instructions for making a protein that acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. In particular, the APC protein helps block a signaling pathway that promotes cell growth and division. The APC protein also interacts with parts of the cell to help ensure that the number of chromosomes in a cell is correct after the cell divides.</p><p>Most of the APC gene variants that cause FAP lead to the production of an abnormally short, nonfunctional version of the APC protein. This shortened protein cannot block the signaling pathway, so cell growth is not controlled. This cell overgrowth leads to the colon polyps, tumors, and colorectal cancer seen in people with FAP. Additionally, the nonfunctional APC protein can impair normal cell division, which may result in an abnormal number of chromosomes in cells and contribute to cancer development in people with FAP.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Familial adenomatous polyposis?"},{"bodyHtml":"<p>The classic type of FAP is the more severe type. People with classic FAP develop colon polyps as early as childhood. By age 35 years, 95 percent of people with classic FAP will have colon polyps. Once polyps appear in people with classic FAP, the number of polyps increases quickly. People with classic FAP may have hundreds to thousands of colon polyps. Unless the colon is removed, one or more of these polyps will become cancerous (malignant). Individuals with classic FAP typically develop colorectal cancer around 40 years old, and at least 90 percent of affected individuals will develop colorectal cancer by age 50 years if they do not have a procedure that removes their colon beforehand (preventative colectomy).</p><p>The attenuated type of FAP is the less severe form. People with attenuated FAP tend to have fewer polyps (an average of 30) that develop later in life (early to mid-adulthood) than those with classic FAP. People with attenuated FAP have a 70 percent lifetime risk of colorectal cancer, with cancer typically developing around 55 years old. People with attenuated FAP may or may not be advised to have a preventative colectomy.</p><p>Less commonly, people with FAP may develop other types of cancer. Affected individuals are at increased risk of developing cancer of the stomach, pancreas, a gland in the lower neck (thyroid gland), liver (specifically, a form known as hepatoblastoma), brain (specifically, a form known as medulloblastoma), or a section of the small intestine (duodenum).</p><p>People with FAP can also have benign growths in their bones (osteomas), in their skin (cysts), or in the small glands located on top of the kidneys called adrenal glands (adrenal masses). Other benign growths called desmoid tumors develop in 10 to 30 percent of people with FAP. These fibrous tumors usually occur in the abdomen or abdominal wall. Desmoid tumors tend to recur after they are surgically removed.</p><p>People with FAP may also have dental abnormalities, which can include teeth that do not break through the gums, one or more missing teeth, extra (supernumerary) teeth, and dental cysts.</p><p>Individuals with FAP often have an eye problem called congenital hypertrophy of the retinal pigment epithelium (CHRPE). CHRPE is characterized by flat lesions on the light-sensitive tissue that lines the back of the eye (retina) that can be seen during an eye exam. CHRPE does not cause any vision problems and occurs in up to 80 percent of people with FAP.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis\">MedlinePlus Genetics</a></p><details class=\"deep-dive\"><summary>MUTYH-associated polyposis</summary><p>MUTYH-associated polyposis (MAP) is an inherited disorder that is characterized by a greatly increased risk of cancer of the large intestine (colon) and rectum (collectively known as colorectal cancer). Most people with MAP develop multiple noncancerous (benign) growths (polyps) in the colon by around age 50 years. Polyps can also occur in the small intestine or the stomach. Individuals with this condition can develop ten to hundreds of polyps. Without monitoring and prompt follow-up, affected individuals have an 80 to 90 percent risk of developing colorectal cancer in their lifetimes. However, people with MAP who do not have polyps can also develop cancer.</p><p>While colorectal cancer is the most common type of cancer in people with MAP, cancer can develop in other places in the body, including a section of the small intestine known as the duodenum, the breasts, the ovaries, the lining of the uterus (the endometrium), and the bladder. While cancers in other tissues have occurred in people with MAP, it is unclear if the risk for those cancers is higher than the risk for the general population.</p><h3>Causes</h3><p>Variants (also called mutations) in the MUTYH gene cause MAP. The MUTYH gene variants that cause MAP are present in all of the body&#x27;s cells and are known as germline variants. The MUTYH gene provides instructions for making an enzyme that is involved in the repair of DNA. This enzyme corrects particular errors that are made when DNA is copied (DNA replication) in preparation for cell division.</p><p>The building blocks of DNA are made up of four chemical bases, each of which pairs with a specific partner to form a unit called a base pair. However, toxic molecules within cells can alter these bases so that they join with the wrong partner. The enzyme produced from the MUTYH gene is part of the repair process that finds and fixes these errors. Once the altered base pairs are fixed, the enzyme will remove the mismatched partner. This process is known as base excision repair.</p><p>Variants in the MUTYH gene can cause cells to produce a version of the enzyme that does not function well or at all. As a result, cells are unable to correct DNA mismatch errors. As cells divide, the errors build up in a person&#x27;s DNA. When these errors occur in genes that control cell growth, cells can grow uncontrollably, which can lead to polyps and the possibility of cancer in people with MAP. For example, the majority of colorectal cancers in people with MAP have a variant in a gene known as KRAS. This KRAS gene variant is an acquired variant that is caused by a MUTYH gene that is not functioning properly.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/mutyh-associated-polyposis/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/mutyh-associated-polyposis\">MedlinePlus: MUTYH-associated polyposis</a></p></details>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"familial-adenomatous-polyposis","sourceDocuments":[{"name":"Familial adenomatous polyposis","reviewed":"2025-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:19.977816+00:00","label":"Causes","pageSha256":"b5ccb71a73af7f0264843976244552bb6bdb5431adc84c6fdc5a001068a28c9a","sourceUrl":"https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis"},{"name":"MUTYH-associated polyposis","reviewed":"2025-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:35.521958+00:00","label":"Causes","pageSha256":"86ebf6893b208e93fce2ba2b55264cf99717c17ada6314317a9e4bd8827f73f5","sourceUrl":"https://medlineplus.gov/genetics/condition/mutyh-associated-polyposis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/mutyh-associated-polyposis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Familial adenomatous polyposis"},"schemaVersion":1}