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• W2979896620 abstract "INTRODUCTION: Fifteen to twenty percent of colorectal cancer (CRC) is familial and genetic alterations are commonly encountered. Genetic testing is recommended in patients with a personal history of young onset CRC, significant family history of CRC, or high polyp burden, defined as having greater than 10 adenomas. Mutations in CHEK2 are associated with a variety of cancers, including CRC. However there is limited literature describing CHEK2 mutations and polyposis. CASE DESCRIPTION/METHODS: A 47-year-old male with a personal history of thyroid cancer was evaluated for a six-month history of diarrhea. Family history was notable for multiple relatives on both sides with thyroid, breast, pancreatic, or colon cancer. Given progressive symptoms and family history, he underwent colonoscopy revealing 15 polyps varying in size, diffusely spread throughout his colon. Pathology revealed three polyps were tubulovillous adenomas with high-grade dysplasia, one polyp revealed focal invasive adenocarcinoma, and the remaining eleven polyps were low-risk tubular adenomas. Given the patient’s age, polyp burden, and complex cancer history, there was high suspicion for a genetic etiology of his thyroid cancer, colon polyps and CRC. He was referred for a genetic evaluation. A multi-gene cancer panel identified a heterozygous mutation, c.1072C > T (p.Gln358*) in CHEK2. DISCUSSION: Checkpoint kinase 2 ( CHEK2 ) is a critical tumor suppressor gene that serves as an upstream regulator of p53. In response to DNA damage, CHEK2 prevents cell maturation and progression into mitosis. Malfunctioning leads to uncontrolled cell cycle progression without apoptosis. CHEK2 is a multi-organ cancer susceptibility gene linked to increased risk of breast, colon, thyroid and prostate cancer. In addition to a personal history of young onset colon cancer, the patient had a personal history of polyposis. This case report raises the question of whether CHEK2 is also a polyposis gene as this finding has important implications for carrier screening. Genetic evaluation for CHEK2 , along with other CRC/polyposis genes, should be considered in young patients with a high-grade dysplastic adenoma, large polyp burden, or a significant personal or familial cancer history. Screening guidelines remain variable at this time and patients found to have a pathologic CHEK2 mutation should receive a multidisciplinary approach for cancer screening. Further studies are needed to evaluate the association of polyposis and CHEK2 mutations." @default.
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• W2979896620 date "2019-10-01" @default.
• W2979896620 modified "2023-09-23" @default.
• W2979896620 title "1679 Polyposis With a Mutation in the CHEK2 Tumor Suppressor Gene" @default.
• W2979896620 doi "https://doi.org/10.14309/01.ajg.0000596248.95401.95" @default.
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