BRCA1：范可尼贫血症/BRCA 通路中的缺失环节。
BRCA1: a missing link in the Fanconi anemia/BRCA pathway.
机构信息
Departments of Radiation Oncology and Pediatrics, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02215, USA.
出版信息
Cancer Discov. 2013 Apr;3(4):376-8. doi: 10.1158/2159-8290.CD-13-0044.
Abstract
Domchek and colleagues provide a case report of a 28-year-old woman with congenital abnormalities, inherited ovarian cancer, and carboplatin hypersensitivity. Interestingly, the woman had validated germline mutations in both BRCA1 alleles. These findings further implicate BRCA1 in the Fanconi anemia/BRCA pathway and have important implications for BRCA1 genetic testing.
摘要
多姆切克及其同事提供了一例 28 岁女性病例报告，该女性患有先天性异常、遗传性卵巢癌和卡铂过敏。有趣的是，该女性在 BRCA1 等位基因中均存在经证实的种系突变。这些发现进一步表明 BRCA1 在范可尼贫血/BRCA 通路中的作用，并对 BRCA1 基因检测具有重要意义。
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