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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants that cause a disease or increase the risk for a disease are sometimes called pathogenic variants. Pathogenic variants in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes can cause Lynch syndrome.</p><p>The MLH1, MSH2, MSH6, and PMS2 genes are involved in repairing the errors that occur when DNA is copied in preparation for cell division, a process called DNA replication. Because these genes work together to fix DNA errors, they are known as mismatch repair (MMR) genes. Pathogenic variants in any of these MMR genes can cause Lynch syndrome. People with pathogenic variants in the MLH1 or MSH2 genes tend to have a higher risk of developing cancer during their lifetime than people with pathogenic variants in the MHS6 or PMS2 genes.</p><p>Changes in the EPCAM gene can also disrupt DNA repair, although the gene itself is not directly involved in this process. The EPCAM gene lies next to the MSH2 gene on chromosome 2, and certain EPCAM gene variants cause the MSH2 gene to be turned off (inactivated). As a result, the MSH2 gene&#x27;s role in DNA repair is disrupted, which can lead to accumulated DNA errors and cancer development.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/lynch-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Lynch syndrome?"},{"bodyHtml":"<p>People with Lynch syndrome may occasionally have noncancerous (benign) growths in the colon, called colon polyps. In individuals with this disorder, colon polyps occur at a younger age but not in greater numbers than they do in the general population.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/lynch-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"lynch-syndrome","sourceDocuments":[{"name":"Lynch syndrome","reviewed":"2013-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:01.431284+00:00","label":"Causes","pageSha256":"d4dcc43ff9ab84555e90c3d794acbc484a3a7914f404b6377c9fc620911828ea","sourceUrl":"https://medlineplus.gov/genetics/condition/lynch-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/lynch-syndrome"}],"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":"Lynch syndrome"},"schemaVersion":1}