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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease or increase the risk of disease are sometimes called mutations or pathogenic variants. Pathogenic variants in the PMS2 gene cause more than 50 percent of cases of CMMRD, while pathogenic variants in the MSH6 gene cause approximately 20 percent of cases. Pathogenic variants in the MLH1 and MSH2 genes are responsible for the remaining cases of CMMRD. These four genes are involved in repairing 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.</p><p>The pathogenic variants that cause CMMRD reduce the amount of functional MMR protein. A shortage of any of the MMR proteins impairs the cell&#x27;s ability to fix the errors that naturally occur during DNA replication. These errors can then accumulate and disrupt other genes that are involved in important cellular processes such as cell growth and cell division (proliferation). Uncontrolled cell growth leads to cancer.</p><p>Particular pathogenic variants in MMR genes cause a form of CMMRD called attenuated CMMRD. One such pathogenic variant in the PMS2 gene is found in the Nunavik population of Quebec, Canada. People with attenuated CMMRD typically develop cancer later in life, often in adulthood.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Constitutional mismatch repair deficiency syndrome?"},{"bodyHtml":"<p>Approximately 50 percent of people with CMMRD will develop cancer by age 10, and 90 percent will develop cancer by age 18. Brain cancers, leukemias, and lymphomas tend to occur at a younger age than colorectal cancer in affected individuals. Nearly all people with CMMRD will develop a second cancer if they survive the first cancer.</p><p>People with CMMRD often develop multiple abnormal growths (polyps) on the lining of the colon. If these polyps are not removed, they may become cancerous over time.</p><p>Brain cancers in people with CMMRD are often high-grade gliomas or glioblastomas, which are tumors that are made up of cells called glial cells.</p><p>The most common blood cancers in people with CMMRD are non-Hodgkin lymphomas, such as lymphoblastic lymphoma. These cancers primarily affect white blood cells known as T cells.</p><p>Other cancers that can occur in people who have CMMRD include cancers of the small intestine, urinary tract, or lining of the uterus. Cancers of the connective tissue and bone (sarcomas) may also develop.</p><p>Some affected individuals have patches of skin that are unusually light in color (hypopigmented). Many people with CMMRD develop features similar to those seen in people with a condition called neurofibromatosis type 1. These features include changes in skin coloring (pigmentation), which are characterized by multiple flat patches on the skin that are darker than the surrounding area (café-au-lait spots). Because of these shared features, CMMRD is sometimes initially misdiagnosed as neurofibromatosis type 1.</p><p>Many people with CMMRD also develop a noncancerous (benign) feature called developmental venous anomaly, which is a rearrangement of the small veins in the brain. This feature can only be seen with medical imaging.</p><p>Due to the young age at which people with CMMRD develop cancer, the lifespan of affected individuals is typically shortened, with many people surviving only into adolescence or early adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"constitutional-mismatch-repair-deficiency-syndrome","sourceDocuments":[{"name":"Constitutional mismatch repair deficiency syndrome","reviewed":"2025-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:40.403748+00:00","label":"Causes","pageSha256":"24b1ca39d0e4c2d29de54db0211ea5011bdb87a5492156809b8d63b57f70d622","sourceUrl":"https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-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":"Constitutional mismatch repair deficiency syndrome"},"schemaVersion":1}