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Article

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

Familial cancer - 15 Nov 2024

Brinch Heidi Hesselø, Byrjalsen Anna, Lohse Zuzana, Rasmussen Andreas Ørslev, Karstensen John Gásdal, Kristiansen Britta Schlott, Jelsig Anne Marie

Abstract excerpt

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....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39546056
DOI: 10.1007/s10689-024-00428-6
PMCID: PMC11568000

Genes

RNF43

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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