Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer
| Autor: | E Sun Paik, Eun Jin Heo, Jeong-Won Lee, Jong-Won Kim, Chel Hun Choi, Byoung-Gie Kim, Jae Hoon Kim, Jae Weon Kim, Sang Yoon Park, Yong-Man Kim |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Oncology Cancer Research medicine.medical_specialty endocrine system diseases overall survival Disease Carcinoma Ovarian Epithelial ovarian neoplasm BRCA2 genes Germline Germline mutation Mutation Rate Clinical Research Internal medicine Republic of Korea Prevalence medicine Humans Family history skin and connective tissue diseases Germ-Line Mutation Aged Retrospective Studies BRCA2 Protein Ovarian Neoplasms BRCA1 Protein business.industry BRCA mutation Haplotype Original Articles General Medicine Middle Aged Survival Analysis female genital diseases and pregnancy complications Serous fluid Treatment Outcome germline mutation Mutation Cohort BRCA1 genes Female Original Article Neoplasm Grading business |
| Zdroj: | Cancer Science |
| ISSN: | 1349-7006 1347-9032 |
| Popis: | 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 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. BRCA mutation is an independent prognostic factor for survival regardless of platinum sensitivity to first‐line chemotherapy. A higher response rate to subsequent chemotherapy after recurrence was observed in patients with BRCA mutation, resulting in better overall survival in these patients. |
| Databáze: | OpenAIRE |
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