BRCA1 LOSS-OF-FUNCTION

BRCA1功能缺失突变已被证明会增加携带等位基因的人患乳腺癌和卵巢癌的风险。用奥拉帕尼等parp抑制剂治疗BRCA突变患者已导致显著反应。
BRCA1 loss of function mutations have been shown to increase risk of breast and ovarian cancer in those carrying the allele in their germline. Treating BRCA mutant patients with PARP inhibitors such as Olaparib has led to significant response.