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

Lynch 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 sk...

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Bibliographic Details
Main Authors: Ugne Silinskaite, Edita Gavelienė, Rokas Stulpinas, Ramunas Janavicius, Tomas Poskus
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Journal of Clinical Medicine
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Online Access:https://www.mdpi.com/2077-0383/12/17/5502
Description
Summary:Lynch 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 <i>MLH1</i>, <i>MSH2</i> (<i>EPCAM</i>), <i>MSH6</i>, and <i>PMS2</i> 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 <i>MSH2</i> (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.
ISSN:2077-0383