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The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations.

Human mutation - 1 Oct 2009

Dallosso Anthony R, Jones Siân, Azzopardi Duncan, Moskvina Valentina, Al-Tassan Nada, Williams Geraint T, Idziaszczyk Shelley, Davies D Rhodri, Milewski Peter, Williams Sally, Beynon John, Sampson Julian R, Cheadle Jeremy P

Abstract excerpt

Multiple rare nonsynonymous variants in APC predispose to colorectal adenomas. The mechanisms through which such variants act have been unclear, but it has been proposed that a specific ("just-right") level of beta-catenin signaling is required for colorectal tumorigenesis. This appears to be mediated by selection for APC genotypes that retain one, or rarely two, 20 amino acid beta-catenin downregulating repeats...

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PMID: 19701947
DOI: 10.1002/humu.21089

Genes

APC

Variants

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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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