Cited 2 times in
Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer
DC Field | Value | Language |
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dc.contributor.author | 김남규 | - |
dc.contributor.author | 박태성 | - |
dc.contributor.author | 송재우 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2015-04-24T16:20:25Z | - |
dc.date.available | 2015-04-24T16:20:25Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 0165-4608 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/103347 | - |
dc.description.abstract | Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA testing revealed three novel HNPCC germline mutations in two genes: namely, MLH1, with an insertion resulting in a frameshift and a premature stop codon; MSH2, with a deletion at nucleotide 633, exon 3, which results in stop of translation at codon 213; and MSH2, with a deletion at nucleotide 1413, exon 9, resulting in a frameshift and a premature stop codon. In the first two families, there were splice mutations at c.2006-6 thymine to cytosine. The clinical implications of a frameshift mutation are discussed, along with the significance of common underlying splice mutations existing within families with HNPCC | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 61~64 | - |
dc.relation.isPartOf | CANCER GENETICS AND CYTOGENETICS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adaptor Proteins, Signal Transducing/genetics* | - |
dc.subject.MESH | Asian Continental Ancestry Group/genetics | - |
dc.subject.MESH | Codon, Terminator | - |
dc.subject.MESH | Colorectal Neoplasms/genetics* | - |
dc.subject.MESH | Colorectal Neoplasms, Hereditary Nonpolyposis/genetics* | - |
dc.subject.MESH | Exons | - |
dc.subject.MESH | Family | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Frameshift Mutation | - |
dc.subject.MESH | Germ-Line Mutation | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | MutL Protein Homolog 1 | - |
dc.subject.MESH | MutS Homolog 2 Protein/genetics* | - |
dc.subject.MESH | Mutation, Missense* | - |
dc.subject.MESH | Nuclear Proteins/genetics* | - |
dc.subject.MESH | Pedigree | - |
dc.title | Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Seoyoung Yoon | - |
dc.contributor.googleauthor | Tae Sung Park | - |
dc.contributor.googleauthor | Nam Kyu Kim | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.contributor.googleauthor | Juwon Kim | - |
dc.contributor.googleauthor | Jaewoo Song | - |
dc.contributor.googleauthor | Bo-Young Kim | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.identifier.doi | 10.1016/j.cancergencyto.2008.09.001 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00353 | - |
dc.contributor.localId | A01725 | - |
dc.contributor.localId | A02054 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J00443 | - |
dc.identifier.eissn | 1873-4456 | - |
dc.identifier.pmid | 19100506 | - |
dc.identifier.url | http://www.sciencedirect.com/science/article/pii/S0165460808005220 | - |
dc.contributor.alternativeName | Kim, Nam Kyu | - |
dc.contributor.alternativeName | Park, Tae Sung | - |
dc.contributor.alternativeName | Song, Jae Woo | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Kim, Nam Kyu | - |
dc.contributor.affiliatedAuthor | Park, Tae Sung | - |
dc.contributor.affiliatedAuthor | Song, Jae Woo | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.citation.volume | 188 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 61 | - |
dc.citation.endPage | 64 | - |
dc.identifier.bibliographicCitation | CANCER GENETICS AND CYTOGENETICS , Vol.188(2) : 61-64, 2009 | - |
dc.identifier.rimsid | 37286 | - |
dc.type.rims | ART | - |
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