Document Detail


Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis.
MedLine Citation:
PMID:  20513532     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Germline mutations within the adenomatous polyposis coli (APC) gene are associated with familial adenomatous polyposis (FAP), an autosomal dominant disease predisposing individuals to colorectal cancer. Identification of APC mutations has important implications for genetic counseling and management of FAP patients. We examined the APC mutation status of 10 Korean FAP patients by polymerase chain reaction-direct sequencing method and found six APC mutations, including three novel mutations. Testing for MUTYH mutation was done for FAP patients in whom no mutation in the APC gene was identified. Three novel mutations (c.1654_1663delTCTTGGCGAG, c.3709C>T, and c.6092_6094delinsTT) and three previously reported mutations (c.3631_3632delAT, c.4438C>T, and c.4612_4613delGA) were detected. The MUTYH mutation was not detected in any of the four FAP patients without an APC mutation. This finding of three novel mutations in a group of Korean FAP patients broadens the spectrum of APC mutations.
Authors:
Yun Ha Jang; Seok-Byung Lim; Mi-Jung Kim; Hee-Jung Chung; Han-Wook Yoo; Jeong-Sik Byeon; Seung-Jae Myung; Woochang Lee; Sail Chun; Won-Ki Min
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  200     ISSN:  1873-4456     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-06-01     Completed Date:  2010-06-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  34-9     Citation Subset:  IM    
Copyright Information:
2010 Elsevier Inc. All rights reserved.
Affiliation:
Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Songpa-gu, Seoul, Korea.
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MeSH Terms
Descriptor/Qualifier:
Adenomatous Polyposis Coli / genetics*
Adult
Asian Continental Ancestry Group / genetics
Female
Genes, APC*
Humans
Male
Mutation*

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