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Article

A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype.

Familial cancer - 1 Sept 2010

Fostira Florentia, Yannoukakos Drakoulis

Abstract excerpt

A subset of APC mutation carriers shows a milder familial adenomatous polyposis phenotype (attenuated FAP) developing smaller number of polyps and colorectal cancer at an older age. It seems that a different mechanism to carcinogenesis is initiated according to the initial site of the germline mutation. The APC gene of a female patient with AFAP phenotypic features was analysed. A novel mutation located on the...

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Source

Identifiers

PMID: 20033787
DOI: 10.1007/s10689-009-9317-x

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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