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Mutation spectrum of the APC gene in 83 Korean FAP families

Authors
 Duck-Woo Kim  ;  Il-Jin Kim  ;  Hio Chung Kang  ;  Hye-Won Park  ;  Yong Shin  ;  Jae-Hyun Park  ;  Sang-Geun Jang  ;  Byong Chul Yoo  ;  Min Ro Lee  ;  Chang Won Hong  ;  Kyu Joo Park  ;  Nahm-Gun Oh  ;  Nam Kyu Kim  ;  Moo Kyung Sung  ;  Bong Wha Lee  ;  Young Jin Kim  ;  Hyucksang Lee  ;  Jae-Gahb Park 
Citation
 HUMAN MUTATION, Vol.26(3) : 281, 2005 
Journal Title
 HUMAN MUTATION 
ISSN
 1059-7794 
Issue Date
2005
MeSH
Adenomatous Polyposis Coli/genetics* ; Adenomatous Polyposis Coli Protein/genetics* ; Adult ; Codon ; DNA Mutational Analysis/methods* ; Female ; Genes, APC* ; Genotype ; Germ-Line Mutation ; Humans ; Korea ; Male ; Models, Genetic ; Mutation*
Keywords
familial adenomatous polyposis ; FAP ; adenomatous polyposis coli ; APC ; genotype‐phenotype correlation
Abstract
Familial adenomatous polyposis (FAP) is a clinically well-defined hereditary disease caused by germline mutations in the adenomatous polyposis coli (APC) gene. FAP is characterized by polyposis in the large bowel and variable extracolonic manifestations. With an increase of reported APC germline mutations, many reports have investigated genotype-phenotype correlations in FAP patients. Here, we analyzed the APC gene for germline mutations in 83 unrelated Korean FAP patients and investigated genotype-phenotype correlations. We identified germline APC mutations in 59 (71%) of the cases, including 34 frameshift mutations, 19 nonsense mutations, and six splice site mutations. Among 59 patients with the identified germline mutation of the APC gene, 37 had been reported previously and were included in the genotype-phenotype analysis. In the other 22 patients, we identified seven novel mutations: c.1438C>T, c.2232_2233dupCT, c.3426delT, c.3739_3769del31, c.3931_3935delATTGG, c.4332dupA, and c.4722_4725delACTA. Desmoid tumors were identified in six of the examined FAP patients, five of whom had APC germline mutations; these mutations involved codons 849, 864, 1309, 1444 and 1464, respectively (c.2547_2548delTA, c.2592_2593insCT, c.3927_3931delAAAGA, c.4332dupA and c.4391-4394delAGAG). Four of the included FAP patients had papillary thyroid cancers; all were female and had germline APC mutations (c.1863_1865delTTAincCT, c.2805C>A, c.3183_3187delACAAA and c.3927_3931delAAAGA). © 2005 Wiley-Liss, Inc.
Full Text
http://onlinelibrary.wiley.com/doi/10.1002/humu.9360/abstract
DOI
10.1002/humu.9360
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Nam Kyu(김남규) ORCID logo https://orcid.org/0000-0003-0639-5632
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/151084
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