Cited 2 times in
A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer.
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김남규 | - |
dc.contributor.author | 박태성 | - |
dc.contributor.author | 송재우 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2015-05-19T17:21:17Z | - |
dc.date.available | 2015-05-19T17:21:17Z | - |
dc.date.issued | 2008 | - |
dc.identifier.issn | 0165-4608 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/107989 | - |
dc.description.abstract | Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer-susceptible syndrome that predisposes to the early development of colorectal cancer. Germline mutations in DNA mismatch repair genes, particularly MLH1 and MSH2, are associated with the clinical phenotype of HNPCC. A previously unreported, novel missense mutation in exon 3 of the MSH2 gene (c.380A>T) was identified in the proband and a different missense mutation in exon 3 of MSH2 gene (c.505A>G) was noted in the mother, with a mutual splice mutation in intron 12 of the MSH2 gene in the proband, mother, and younger brother. Here, we report the clinical implications of a novel mutation in a patient with early-onset colorectal cancer and the significance of a common underlying splice site mutation occurring within a family with HNPCC. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 136~139 | - |
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 | Adenocarcinoma/epidemiology | - |
dc.subject.MESH | Adenocarcinoma/genetics* | - |
dc.subject.MESH | Aged | - |
dc.subject.MESH | Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology | - |
dc.subject.MESH | Colorectal Neoplasms, Hereditary Nonpolyposis/genetics* | - |
dc.subject.MESH | DNA Mismatch Repair | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Germ-Line Mutation/genetics* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea/epidemiology | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | MutS Homolog 2 Protein/genetics* | - |
dc.subject.MESH | Mutation, Missense/genetics* | - |
dc.title | A novel missense MSH2 gene mutation in a patient of a Korean family 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 | Seo-Jin Park | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.contributor.googleauthor | Tae Sung Park | - |
dc.contributor.googleauthor | Nam Kyu 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.2008.01.011 | - |
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 | 18406877 | - |
dc.identifier.url | http://www.sciencedirect.com/science/article/pii/S0165460808000332 | - |
dc.subject.keyword | Adenocarcinoma/epidemiology | - |
dc.subject.keyword | Adenocarcinoma/genetics* | - |
dc.subject.keyword | Aged | - |
dc.subject.keyword | Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology | - |
dc.subject.keyword | Colorectal Neoplasms, Hereditary Nonpolyposis/genetics* | - |
dc.subject.keyword | DNA Mismatch Repair | - |
dc.subject.keyword | Female | - |
dc.subject.keyword | Germ-Line Mutation/genetics* | - |
dc.subject.keyword | Humans | - |
dc.subject.keyword | Korea/epidemiology | - |
dc.subject.keyword | Male | - |
dc.subject.keyword | Middle Aged | - |
dc.subject.keyword | MutS Homolog 2 Protein/genetics* | - |
dc.subject.keyword | Mutation, Missense/genetics* | - |
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.rights.accessRights | not free | - |
dc.citation.volume | 182 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 136 | - |
dc.citation.endPage | 139 | - |
dc.identifier.bibliographicCitation | CANCER GENETICS AND CYTOGENETICS , Vol.182(2) : 136-139, 2008 | - |
dc.identifier.rimsid | 50045 | - |
dc.type.rims | ART | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.