Cited 5 times in
Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer
DC Field | Value | Language |
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dc.contributor.author | 김재훈 | - |
dc.date.accessioned | 2023-02-10T00:49:31Z | - |
dc.date.available | 2023-02-10T00:49:31Z | - |
dc.date.issued | 2021-12 | - |
dc.identifier.issn | 1347-9032 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/192398 | - |
dc.description.abstract | This study was performed to investigate the prevalence, clinical characteristics, and treatment response according to BRCA1 and BRCA2 (BRCA) mutations in Korean patients with epithelial ovarian cancer (EOC). Two-hundred and ninety-eight Korean women diagnosed with high-grade serous and/or endometrioid EOC from 2010 to 2015 were tested for germline and 86 specimens for somatic BRCA mutations, regardless of the family history. Clinical characteristics including survival outcomes were compared in patients with and without BRCA mutations (NCT02963688). A total of 43 different germline BRCA mutations were identified in 78 patients among 298 patients (26.2%). Somatic BRCA mutations were identified in 11 (12.8%) patients among patients without germline BRCA mutations. Haplotype analysis demonstrated no founder mutations in our Korean patient cohort. Insignificant differences in age at diagnosis, primary site, and residual disease after surgery were observed between patients with and without BRCA mutations. In multivariate analysis for overall survival (OS), the presence of BRCA mutation was significantly associated with OS (P = .049) in addition to platinum sensitivity (P < .001), indicating it is an independent prognostic factor for survival regardless of platinum sensitivity to first-line chemotherapy. In addition, a higher response rate to subsequent chemotherapy after recurrence was observed in EOC patients with BRCA mutations resulting in better OS. In the current study, the prevalence of BRCA mutations in Korean patients with EOC was higher than previously reported in other ethnic groups. We demonstrated characteristics and treatment response in Korean EOC patients with BRCA mutations. These findings may provide valuable information to be considered in future clinical trials including Asian patients. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Wiley Publishing on behalf of the Japanese Cancer Association | - |
dc.relation.isPartOf | CANCER SCIENCE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Aged | - |
dc.subject.MESH | BRCA1 Protein / genetics* | - |
dc.subject.MESH | BRCA2 Protein / genetics* | - |
dc.subject.MESH | Carcinoma, Ovarian Epithelial / genetics | - |
dc.subject.MESH | Carcinoma, Ovarian Epithelial / pathology | - |
dc.subject.MESH | Carcinoma, Ovarian Epithelial / therapy* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Germ-Line Mutation | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Mutation Rate | - |
dc.subject.MESH | Mutation* | - |
dc.subject.MESH | Neoplasm Grading | - |
dc.subject.MESH | Ovarian Neoplasms / genetics | - |
dc.subject.MESH | Ovarian Neoplasms / pathology | - |
dc.subject.MESH | Ovarian Neoplasms / therapy* | - |
dc.subject.MESH | Prevalence | - |
dc.subject.MESH | Republic of Korea / epidemiology | - |
dc.subject.MESH | Retrospective Studies | - |
dc.subject.MESH | Survival Analysis | - |
dc.subject.MESH | Treatment Outcome | - |
dc.title | Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Obstetrics and Gynecology (산부인과학교실) | - |
dc.contributor.googleauthor | E Sun Paik | - |
dc.contributor.googleauthor | Eun Jin Heo | - |
dc.contributor.googleauthor | Chel Hun Choi | - |
dc.contributor.googleauthor | Jae-Hoon Kim | - |
dc.contributor.googleauthor | Jae-Weon Kim | - |
dc.contributor.googleauthor | Yong-Man Kim | - |
dc.contributor.googleauthor | Sang-Yoon Park | - |
dc.contributor.googleauthor | Jeong-Won Lee | - |
dc.contributor.googleauthor | Jong-Won Kim | - |
dc.contributor.googleauthor | Byoung-Gie Kim | - |
dc.identifier.doi | 10.1111/cas.15166 | - |
dc.contributor.localId | A00876 | - |
dc.relation.journalcode | J00454 | - |
dc.identifier.eissn | 1349-7006 | - |
dc.identifier.pmid | 34657357 | - |
dc.subject.keyword | BRCA1 genes | - |
dc.subject.keyword | BRCA2 genes | - |
dc.subject.keyword | germline mutation | - |
dc.subject.keyword | ovarian neoplasm | - |
dc.subject.keyword | overall survival | - |
dc.contributor.alternativeName | Kim, Jae Hoon | - |
dc.contributor.affiliatedAuthor | 김재훈 | - |
dc.citation.volume | 112 | - |
dc.citation.number | 12 | - |
dc.citation.startPage | 5055 | - |
dc.citation.endPage | 5067 | - |
dc.identifier.bibliographicCitation | CANCER SCIENCE, Vol.112(12) : 5055-5067, 2021-12 | - |
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