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Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome

25 Aug 2020

Abstract excerpt

Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC), and it is characterized by DNA mismatch repair (MMR) deficiency. The term Lynch-like syndrome (LLS) is used for patients with MMR-deficient tumors and neither germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM nor MLH1 somatic methylation. Biallelic somatic inactivation or cryptic germline MMR variants undetected during genetic...

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PMID: 32841224
DOI: 10.1172/jci.insight.140698

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