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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the CTNNB1 gene account for around 90 percent of sporadic desmoid tumors. Variants in the APC gene cause the desmoid tumors that are associated with FAP. Both genes are involved in an important cell signaling pathway that controls the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation).</p><p>The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein interacts with other proteins to control the activity (expression) of particular genes, which helps promote cell proliferation and differentiation. CTNNB1 gene variants lead to an abnormally stable beta-catenin protein that is not broken down when it is no longer needed. The protein accumulates in cells, where it continues to function and allows uncontrolled cell proliferation and the formation of desmoid tumors.</p><p>The protein produced from the APC gene helps regulate the levels of beta-catenin in the cell by attaching (binding) to other proteins to form a complex. When this complex binds to beta-catenin, it helps to break down the protein. Variants in the APC gene cause cells to produce an abnormally short version of the APC protein that is unable to form the complex. As a result, beta-catenin is not broken down and, instead, accumulates in cells. Excess beta-catenin promotes uncontrolled growth and division of cells, causing the formation of polyps and, occasionally, desmoid tumors in people with FAP.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/desmoid-tumor/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Desmoid tumor?"},{"bodyHtml":"<p>Tumors that form in the abdomen or abdominal wall are called abdominal desmoid tumors, those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors, and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.</p><p>Desmoid tumors are fibrous, much like scar tissue. They are generally noncancerous (benign) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. Desmoid tumors can recur, even after they are removed. In about 20 percent of cases, the tumors shrink or disappear with minimal or no treatment (spontaneously regress).</p><p>Desmoid tumors may not cause any signs or symptoms. When they do cause symptoms, the most common one is pain. The pain is often due to the tumor pressing against nearby organs, tissues, or blood vessels. Other signs and symptoms are often caused by growth of the tumor into the surrounding tissue, and they can vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints, making it difficult to move the arms or legs.</p><p>Desmoid tumors can also occur in combination with other conditions. Desmoid tumors are found in 10 to 30 percent of people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of FAP are described as sporadic.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/desmoid-tumor\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"desmoid-tumor","sourceDocuments":[{"name":"Desmoid tumor","reviewed":"2025-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:55.605639+00:00","label":"Causes","pageSha256":"4ed7d257b3f80486f62ca36298fc243747474b028ca6dbada024ecf9ff32d1d6","sourceUrl":"https://medlineplus.gov/genetics/condition/desmoid-tumor/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/desmoid-tumor"}],"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":"Desmoid tumor"},"schemaVersion":1}