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Article

Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene.

Gut - 1 Oct 1998

Brensinger J D, Laken S J, Luce M C, Powell S M, Vance G H, Ahnen D J, Petersen G M, Hamilton S R, Giardiello F M

Abstract excerpt

BACKGROUND: Germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5 causes familial adenomatous polyposis. "Attenuated" phenotype has been reported with mutation in the 5' end of the gene (5' to codon 158), but genotype-phenotype relations at the 3' end (3' to codon 1596) have not been described fully. AIMS: To describe and compare colorectal and extracolonic phenotypes in a case series of...

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Source

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Identifiers

PMID: 9824584
DOI: 10.1136/gut.43.4.548
PMCID: PMC1727294

Genes

APC
FAP

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene.PMID 9824584Read ↗

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Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation.Semantic proximity Read ↗

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.Semantic proximity Read ↗

Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein.Semantic proximity Read ↗

The farthest 3' distal end APC mutation identified in attenuated adenomatous polyposis coli with extracolonic manifestations.Semantic proximity Read ↗

Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.Semantic proximity Read ↗

Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.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 ↗

Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.Semantic proximity Read ↗

Alleles of the APC gene: an attenuated form of familial polyposis.Semantic proximity Read ↗

Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer.Semantic proximity Read ↗

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.Semantic proximity Read ↗

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