肿瘤易感基因BRCA1(breast and ovarian canoer suscepti-bility gene,BRCA1)与乳腺癌,卵巢癌发生有密切联系,它的失活可导致细胞的恶性转化和肿瘤的发生.BRCA1基因突变者患癌的风险远高于普通群体,对于有家族史的高危人群中筛查BRCA1基因,对于乳腺癌卵巢癌患者风险评估,发病检测,早期诊断及今后的基因治疗等都有很重要的临床意义. The tumor susceptibility gene BRCA1 (BRCA1) is closely related to the occurrence of breast cancer and ovarian cancer. Its inactivation can lead to the malignant transformation of the cells and the occurrence of tumors. BRCA1 gene mutations are cancerous. The risk is much higher than that of the general population. Screening for BRCA1 gene in high risk populations with family history has important clinical significance for risk assessment, disease detection, early diagnosis and future gene therapy for breast cancer patients with ovarian cancer.