Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.

doi:10.1007/s10689-009-9292-2

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Article

Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.

Familial cancer - 1 Jun 2010

Chiang J M, Chen H W, Tang R P, Chen J S, Changchien C R, Hsieh P S, Wang J Y

Abstract excerpt

Familial adenomatous polyposis (FAP) is an autosomal-dominant disease caused by germline mutations in the adenomatous polyposis coli (APC) gene. The affected individuals develop colorectal polyposis and show various extra-colonic manifestations. In this study, we aimed to investigate the genetic and clinical characteristics of FAP in Taiwanese families and analyze the genotype-phenotype correlations. Blood...

Topics

Adenomatous Polyposis Coli
Adult
Aged
Asian People
Codon, Nonsense
Female
Frameshift Mutation
Gene Deletion
Genes, APC
Genetic Association Studies
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Germ-Line Mutation

Humans

Male

Middle Aged

Pedigree

Taiwan

Source

Open in PubMed

Identifiers

PMID: 19768578
DOI: 10.1007/s10689-009-9292-2

Genes

FAP
APC
MUTYH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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