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Mutation spectrum of the APC gene in 83 Korean FAP families

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dc.contributor.author김남규-
dc.date.accessioned2017-10-26T06:37:04Z-
dc.date.available2017-10-26T06:37:04Z-
dc.date.issued2005-
dc.identifier.issn1059-7794-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/151084-
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). © 2005 Wiley-Liss, Inc.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherWiley-Liss-
dc.relation.isPartOfHUMAN MUTATION-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdenomatous Polyposis Coli/genetics*-
dc.subject.MESHAdenomatous Polyposis Coli Protein/genetics*-
dc.subject.MESHAdult-
dc.subject.MESHCodon-
dc.subject.MESHDNA Mutational Analysis/methods*-
dc.subject.MESHFemale-
dc.subject.MESHGenes, APC*-
dc.subject.MESHGenotype-
dc.subject.MESHGerm-Line Mutation-
dc.subject.MESHHumans-
dc.subject.MESHKorea-
dc.subject.MESHMale-
dc.subject.MESHModels, Genetic-
dc.subject.MESHMutation*-
dc.titleMutation spectrum of the APC gene in 83 Korean FAP families-
dc.typeArticle-
dc.publisher.locationUnited States-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Surgery (외과학교실)-
dc.contributor.googleauthorDuck-Woo Kim-
dc.contributor.googleauthorIl-Jin Kim-
dc.contributor.googleauthorHio Chung Kang-
dc.contributor.googleauthorHye-Won Park-
dc.contributor.googleauthorYong Shin-
dc.contributor.googleauthorJae-Hyun Park-
dc.contributor.googleauthorSang-Geun Jang-
dc.contributor.googleauthorByong Chul Yoo-
dc.contributor.googleauthorMin Ro Lee-
dc.contributor.googleauthorChang Won Hong-
dc.contributor.googleauthorKyu Joo Park-
dc.contributor.googleauthorNahm-Gun Oh-
dc.contributor.googleauthorNam Kyu Kim-
dc.contributor.googleauthorMoo Kyung Sung-
dc.contributor.googleauthorBong Wha Lee-
dc.contributor.googleauthorYoung Jin Kim-
dc.contributor.googleauthorHyucksang Lee-
dc.contributor.googleauthorJae-Gahb Park-
dc.identifier.doi10.1002/humu.9360-
dc.contributor.localIdA00353-
dc.relation.journalcodeJ01010-
dc.identifier.eissn1098-1004-
dc.identifier.pmid16088911-
dc.identifier.urlhttp://onlinelibrary.wiley.com/doi/10.1002/humu.9360/abstract-
dc.subject.keywordfamilial adenomatous polyposis-
dc.subject.keywordFAP-
dc.subject.keywordadenomatous polyposis coli-
dc.subject.keywordAPC-
dc.subject.keywordgenotype‐phenotype correlation-
dc.contributor.alternativeNameKim, Nam Kyu-
dc.citation.volume26-
dc.citation.number3-
dc.citation.startPage281-
dc.identifier.bibliographicCitationHUMAN MUTATION, Vol.26(3) : 281, 2005-
dc.date.modified2017-05-04-
dc.identifier.rimsid43431-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers

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