Comparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis.

doi:10.1136/gutjnl-2025-337030

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Article

Comparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis.

Gut - 9 Jun 2026

Palles Claire, Freeman-Mills Luke, Arbe-Barnes Edward, Feeley Nathalie, Chegwidden Laura, Curley Helen, Galavotti Sara, Woolley Connor, Cheadle Jeremy, Mouradov Dmitri, Sieber Oliver, Salatino Silvia, Thorn Steve, Goel Anshita, Fernandez-Tajes Juan, Omwenga Sulochana, Biswas Sujata, Maughan Timothy, Leedham Simon J, Koelzer Viktor Hendrik, Wang Lai Mun, Arnold Roland, East James Edward, Tomlinson Ian

Abstract excerpt

BACKGROUND: Germline RNF43 mutations cause a dominantly inherited syndrome of colorectal cancer (CRC) and serrated polyps. However, these data originate from highly selected families. OBJECTIVE: We assessed germline RNF43 variants in patients more representative of the general population and compared these with somatic RNF43mutations in CRCs. DESIGN: We studied 49 823 CRC and/or polyp cases from the CORGI study,...

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Identifiers

PMID: 41443981
DOI: 10.1136/gutjnl-2025-337030
PMCID: PMC13311953

Genes

RNF43
SFRP4
ZNRF3

Variants

Provenance

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

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