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Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas

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dc.contributor.authorKim, Duck-Woo-
dc.contributor.authorKim, Il-Jin-
dc.contributor.authorKang, Hio-Chung-
dc.contributor.authorJang, Sang-Geun-
dc.contributor.authorKim, Kun-
dc.contributor.authorYoon, Hyun-Ju-
dc.contributor.authorAhn, Sun-A-
dc.contributor.authorHan, Song Yee-
dc.contributor.authorHong, Seung-Hyun-
dc.contributor.authorHwang, Jung-A-
dc.contributor.authorSohn, Dae Kyung-
dc.contributor.authorJeong, Seung-Yong-
dc.contributor.authorChoi, Hyo Seong-
dc.contributor.authorHong, Chang Won-
dc.contributor.authorLim, Seok-Byung-
dc.contributor.authorPark, Jae-Gahb-
dc.date.accessioned2010-01-06T06:53:29Z-
dc.date.available2010-01-06T06:53:29Z-
dc.date.issued2007-08-19-
dc.identifier.citationInt J Colorectal Dis. 2007 Oct;22(10):1173-8. Epub 2007 Feb 15.en
dc.identifier.issn0179-1958 (Print)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17703316-
dc.identifier.urihttps://hdl.handle.net/10371/26640-
dc.description.abstractBACKGROUND: Most investigations on MutY human homolog (MYH)-associated polyposis (MAP) have been conducted in Western countries. Limited data on MAP in Asia are currently available. The present study investigated germline mutations of the MYH gene among patients with 10 to 99 adenomatous colorectal polyps and familial adenomatous polyposis (FAP) without adenomatous polyposis coli (APC) germline mutations in Korea. MATERIALS AND METHODS: The study population included 46 patients with 10 to 99 adenomatous polyps in the colorectum and 16 FAP patients with no identified APC germline mutations. Subjects were screened for MYH germline mutations, and we additionally screened for MYH mutations in 96 normal control individuals. RESULTS: Two of 46 (4.3%) patients with multiple polyps displayed heterozygous biallelic germline mutations of the MYH gene. A 39-year-old male patient with biallelic MYH mutations (p.G272E and p.A359V) received total proctocolectomy for rectal cancer and 36 colorectal polyps. A 58-year-old female patient with biallelic MYH mutations (p.Q253X and p.Q440P) received right hemicolectomy for ascending colon cancer and 16 colonic polyps. The frequency of biallelic MYH mutation in 14 of 46 multiple-polyp patients, who had 15 to 99 polyps, was 14.3% (2 of 14). No biallelic MYH mutations were detected in the 32 patients with 10 to 14 colorectal polyps, 16 FAP patients, or 96 normal controls. CONCLUSION: We identified biallelic MYH germline mutations in 2 of 14 (14.3%) Korean patients with 15 to 99 colorectal polyps. In this study, there was no Y165C or G382D hot-spot mutation, which had been reported most frequently in previous studies.en
dc.language.isoen-
dc.publisherSpringer Verlagen
dc.subjectAdenomatous Polyposis Coli/*geneticsen
dc.subjectAdulten
dc.subjectAgeden
dc.subjectAged, 80 and overen
dc.subjectAsian Continental Ancestry Groupen
dc.subjectBase Sequenceen
dc.subjectColonic Polyps/*geneticsen
dc.subjectDNA Glycosylases/*geneticsen
dc.subjectFemaleen
dc.subjectGenetic Predisposition to Disease/geneticsen
dc.subjectHumansen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subjectMutation/*geneticsen
dc.titleGermline mutations of the MYH gene in Korean patients with multiple colorectal adenomasen
dc.typeArticleen
dc.contributor.AlternativeAuthor김덕우-
dc.contributor.AlternativeAuthor김일진-
dc.contributor.AlternativeAuthor강효정-
dc.contributor.AlternativeAuthor장상근-
dc.contributor.AlternativeAuthor김건-
dc.contributor.AlternativeAuthor윤현주-
dc.contributor.AlternativeAuthor안선아-
dc.contributor.AlternativeAuthor한송이-
dc.contributor.AlternativeAuthor홍승현-
dc.contributor.AlternativeAuthor황정아-
dc.contributor.AlternativeAuthor손대경-
dc.contributor.AlternativeAuthor정승용-
dc.contributor.AlternativeAuthor최효성-
dc.contributor.AlternativeAuthor홍창원-
dc.contributor.AlternativeAuthor임석병-
dc.contributor.AlternativeAuthor박재갑-
dc.identifier.doi10.1007/s00384-007-0289-8-
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