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Article

Genetics, genomics and clinical features of adenomatous polyposis.

Familial cancer - 16 Apr 2025

Joo Jihoon E, Viana-Errasti Julen, Buchanan Daniel D, Valle Laura

Abstract excerpt

Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gastrointestinal tract, particularly in the colon and rectum, significantly increasing the risk of colorectal cancer and, in some cases, extra-colonic malignancies. These syndromes are caused by germline pathogenic variants (PVs) in genes involved in Wnt signalling and DNA repair. The main...

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Source

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Identifiers

PMID: 40237887
DOI: 10.1007/s10689-025-00460-0
PMCID: PMC12003455

Genes

APC
FAP
MBD4
MLH1
MLH3
MSH2
MSH3
MSH6
MUTYH
NTHL1
PMS2
POLD1
POLE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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