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Article

MSH3-related adenomatous polyposis in a patient with the negative family history of colorectal polyps.

Gastroenterologia y hepatologia - 1 Apr 2024

Gavric Aleksandar, Krajc Mateja, Strnisa Luka, Gavric Ana Ursula, Plut Samo

Abstract excerpt

Recently, biallelic MSH3 germline pathogenic/likely pathogenic variants have been recognized as a rare cause of adenomatous polyposis. We present a 49-year-old woman who was admitted to our high-risk colorectal cancer clinic after incidental detection of a biallelic MSH3 (likely) pathogenic variant when tested for the germline (likely) pathogenic variants in hereditary breast and ovarian cancer related genes. The...

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Identifiers

PMID: 37597744
DOI: 10.1016/j.gastrohep.2023.08.006

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