Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome.

ABSTRACT: Serrated Polyposis Syndrome (SPS) is characterized by multiple and/or large serrated polyps in the colon and an increased risk of colorectal cancer (CRC). The etiology is largely unknown, but in a subset of patients with SPS, monoallelic pathogenic variants in RNF43 are detected. To date, however, the penetrance and phenotypic spectrum of patients carrying pathogenic variants (PV) in RNF43 are poorly described. We present eight patients both with and without serrated polyps from four unrelated families with likely pathogenic variants (LPV) in RNF43 and compare the results to current literature. The patients were referred to genetic counseling due to suspicion of hereditary cancer. They underwent genetic testing with custom NGS gene panels including RNF43 as part of a routine genetic work-u

SUBMITTER: Brinch HH 

PROVIDER: S-EPMC11568000 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature