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Mutation spectrum of the APC gene in 83 Korean FAP families

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Authors
Kim, Duck-Woo; Kim, Il-Jin; Kang, Hio Chung; Park, Hye-Won; Shin, Yong; Park, Jae-Hyun; Jang, Sang-Geun; Yoo, Byong Chul; Lee, Min Ro; Hong, Chang Won; Park, Kyu Joo; Oh, Nahm-Gun; Kim, Nam Kyu; Sung, Moo Kyung; Lee, Bong Wha; Kim, Young Jin; Lee, Hyucksang; Park, Jae-Gahb
Issue Date
2005-08-10
Publisher
Wiley-Blackwell
Citation
Hum Mutat. 2005 Sep;26(3):281
Keywords
Adenomatous Polyposis Coli/*geneticsAdenomatous Polyposis Coli Protein/*geneticsAdultCodonDNA Mutational Analysis/*methodsFemale*Genes, APCGenotypeGerm-Line MutationHumansKoreaMaleModels, Genetic*Mutation
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).
ISSN
1098-1004 (Electronic)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16088911

https://hdl.handle.net/10371/16022
DOI
https://doi.org/10.1002/humu.9360
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College of Medicine/School of Medicine (의과대학/대학원)Surgery (외과학전공)Journal Papers (저널논문_외과학전공)
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