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Article

Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype.

European journal of human genetics : EJHG - 1 Jun 2025

Dardenne Antoine, Dhooge Marion, Basset Noémie, Chansavang Albain, Metras Julie, Farelly Solenne, Netter Jeanne, Coulet Florence, Benusiglio Patrick R

Abstract excerpt

We assessed retrospectively the prevalence of pathogenic germline variants (PGV) in 268 French adult patients diagnosed with colorectal cancer (CRC) before age 41, stratified by phenotype. APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, POLE, POLD1, PTEN, PMS2, SMAD4, STK11 and TP53 were analyzed. Overall, 21.6% of cases carried a PGV. A high prevalence was observed in Mismatch Repair-deficient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40097831
DOI: 10.1038/s41431-025-01808-x
PMCID: PMC12185678

Genes

POLE
APC
MSH2
MSH3
MUTYH
BMPR1A
CDH1
EPCAM
MLH1
MSH6
NTHL1
PMS2
POLD1
PTEN
SMAD4
STK11
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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