A Novel Mutation of < em > MSH2 < /em > Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies

J Clin Med. 2023 Aug 24;12(17):5502. doi: 10.3390/jcm12175502.ABSTRACTLynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), accounts for 2-3% of all colorectal cancers. This autosomal dominant disorder is associated with a predisposition to endometrial, stomach, small bowel, pancreatic, biliary tract, ovary, urinary tract, brain, and skin tumors. Lynch syndrome is caused by the mutation of the MLH1, MSH2 (EPCAM), MSH6, and PMS2 genes. In this article, a case study of a 70-year-old female patient with Lynch syndrome is presented. Over a span of 30 years, the patient underwent multiple surgical procedures for a total of thirteen different malignancies. She was found to have a deleterious pathogenic gene MSH2 (NM_000251.2) variant (mutation) c.1774_1775insT in the 12th exon. This variant, c.1774_1775insT, represents a novel finding, as it has not been previously reported in existing databases or literature. No other case of 13 metachronous tumors in a patient with Lynch syndrome was found in the literature.PMID:37685569 | DOI:10.3390/jcm12175502

Source: Clinical Colorectal Cancer - September 9, 2023 Category: Cancer & Oncology Authors: Ugne Silinskaite Edita Gavelien ė Rokas Stulpinas Ramunas Janavicius Tomas Poskus Source Type: research