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Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype.

Familial cancer - 1 Mar 2011

Han Sung-Hee, Ryu Jae-Song, Kim Young-Jin, Cho Han-Ik, Yang Young-Ho, Lee Kyoung-Ryul

Abstract excerpt

Germline mutations within the adenomatous polyposis coli (APC) gene are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date more than 900 different APC germline mutations have been characterized worldwide demonstrating allelic heterogeneity. Here, we analyzed the APC gene in 23 DNA samples from unrelated Korean patients...

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Source

Identifiers

PMID: 21110124
DOI: 10.1007/s10689-010-9363-4

Genes

APC
FAP

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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