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Article

Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.

Familial cancer - 1 Jan 2004

Neklason Deborah W, Solomon Cindy H, Dalton Amy L, Kuwada Scott K, Burt Randall W

Abstract excerpt

The adenomatous polyposis coli (APC) protein is a tumor suppressor frequently involved in the development of inherited and sporadic colon cancers. Somatic mutations of the APC gene are found in 80% of all colon cancers. Inherited mutations result in familial adenomatous polyposis (FAP) as well as an attenuated form of this syndrome. FAP is characterized by the early age onset of hundreds to thousands of colonic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15131404
DOI: 10.1023/B:FAME.0000026824.85766.22

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.

Related research

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Research trail→

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Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.PMID 15131404Read ↗

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Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.Semantic proximity Read ↗

The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect.Semantic proximity Read ↗

A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis.Semantic proximity Read ↗

Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis.Semantic proximity Read ↗

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.Semantic proximity Read ↗

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.Semantic proximity Read ↗

Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.Semantic proximity Read ↗

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