作者
Byung Ho Son, Sei Hyun Ahn, Sung-Won Kim, Eunyoung Kang, Sue K Park, Min Hyuk Lee, Woo-Chul Noh, Lee Su Kim, Yongsik Jung, Ku Sang Kim, Dong-Young Noh, Byung-In Moon, Young Jin Suh, Jeong Eon Lee, Doo Ho Choi, Sung Yong Kim, Sung Hoo Jung, Cha Kyong Yom, Hyde Lee, Jung-Hyun Yang, KOHBRA Research Group and the Korean Breast Cancer Society
发表日期
2012/6
期刊
Breast cancer research and treatment
卷号
133
页码范围
1143-1152
出版商
Springer US
简介
Prevalence and phenotype of BRCA mutation can vary by race. The purpose of this study is to evaluate the prevalence of BRCA1/2 mutations in non-familial breast cancer patients with high risks in Korea. A subset of 758 patients was selected for this study from the KOHBRA nationwide multicenter prospective cohort study. Mutations in BRCA1/2 genes were tested using fluorescent-conformation sensitive gel electrophoresis, denaturing high performance liquid chromatography or direct sequencing. Mutation of BRCA1/2 genes were identified in 65 (8.6%) patients among total 758 patients [BRCA1 mutation: 25 (3.3%), BRCA2 mutation: 40 (5.3%)]. According to risk groups, mutation of BRCA1/2 genes were identified in 53 (8.5%) of 625 early onset patients (age ≤40), in 22 (17.7%) of 124 bilateral breast cancer patients, in 3 (50.0%) of 6 breast and ovarian cancer patients, in one (5.9%) of 17 male breast …
引用总数
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