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Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

Human molecular genetics - 1 Nov 2002

Jones Siân, Emmerson Paul, Maynard Julie, Best Jacqueline M, Jordan Sheila, Williams Geraint T, Sampson Julian R, Cheadle Jeremy P

Abstract excerpt

We have recently demonstrated that inherited defects of the base excision repair gene MYH predispose to multiple colorectal adenomas and carcinoma. Three affected siblings from a single British family were identified as Y165C/G382D compound heterozygotes and both missense mutations were shown to be functionally compromised. Here, we report the identification of seven further unrelated patients with >100...

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PMID: 12393807
DOI: 10.1093/hmg/11.23.2961

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APC
FAP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.PMID 12393807Read ↗

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