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Mutation spectrum of the APC gene in 83 Korean FAP families

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dc.contributor.authorKim, Duck-Woo-
dc.contributor.authorKim, Il-Jin-
dc.contributor.authorKang, Hio Chung-
dc.contributor.authorPark, Hye-Won-
dc.contributor.authorShin, Yong-
dc.contributor.authorPark, Jae-Hyun-
dc.contributor.authorJang, Sang-Geun-
dc.contributor.authorYoo, Byong Chul-
dc.contributor.authorLee, Min Ro-
dc.contributor.authorHong, Chang Won-
dc.contributor.authorPark, Kyu Joo-
dc.contributor.authorOh, Nahm-Gun-
dc.contributor.authorKim, Nam Kyu-
dc.contributor.authorSung, Moo Kyung-
dc.contributor.authorLee, Bong Wha-
dc.contributor.authorKim, Young Jin-
dc.contributor.authorLee, Hyucksang-
dc.contributor.authorPark, Jae-Gahb-
dc.date.accessioned2009-11-26T06:43:14Z-
dc.date.available2009-11-26T06:43:14Z-
dc.date.issued2005-08-10-
dc.identifier.citationHum Mutat. 2005 Sep;26(3):281en
dc.identifier.issn1098-1004 (Electronic)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16088911-
dc.identifier.urihttps://hdl.handle.net/10371/16022-
dc.description.abstractFamilial 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).en
dc.language.isoenen
dc.publisherWiley-Blackwellen
dc.subjectAdenomatous Polyposis Coli/*geneticsen
dc.subjectAdenomatous Polyposis Coli Protein/*geneticsen
dc.subjectAdulten
dc.subjectCodonen
dc.subjectDNA Mutational Analysis/*methodsen
dc.subjectFemaleen
dc.subject*Genes, APCen
dc.subjectGenotypeen
dc.subjectGerm-Line Mutationen
dc.subjectHumansen
dc.subjectKoreaen
dc.subjectMaleen
dc.subjectModels, Geneticen
dc.subject*Mutationen
dc.titleMutation spectrum of the APC gene in 83 Korean FAP familiesen
dc.typeArticleen
dc.contributor.AlternativeAuthor김덕우-
dc.contributor.AlternativeAuthor김일진-
dc.contributor.AlternativeAuthor강효정-
dc.contributor.AlternativeAuthor박혜원-
dc.contributor.AlternativeAuthor신용-
dc.contributor.AlternativeAuthor박재현-
dc.contributor.AlternativeAuthor장상근-
dc.contributor.AlternativeAuthor유병철-
dc.contributor.AlternativeAuthor이민로-
dc.contributor.AlternativeAuthor홍창원-
dc.contributor.AlternativeAuthor박규주-
dc.contributor.AlternativeAuthor오남건-
dc.contributor.AlternativeAuthor김남규-
dc.contributor.AlternativeAuthor성무경-
dc.contributor.AlternativeAuthor이봉화-
dc.contributor.AlternativeAuthor김영진-
dc.contributor.AlternativeAuthor이혁상-
dc.contributor.AlternativeAuthor박재갑-
dc.identifier.doi10.1002/humu.9360-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Surgery (외과학전공)Journal Papers (저널논문_외과학전공)
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