BRCA1/2基因检测在恶性肿瘤中的应用

Implication of BRCA1/2 gene detection in malignant tumors

乳腺癌易感基因BRCA1/2(breast cancer gene 1/2)在细胞DNA损伤和修复通路中发挥着关键作用,对于保持基因组的完整性至关重要。早期研究发现BRCA1/2是遗传性乳腺癌/卵巢癌综合征的主要致病因素,BRCA1/2突变携带者罹患乳腺癌和卵巢癌的风险大幅增加;近年研究表明,BRCA1/2突变增加了结肠癌、胰腺癌、皮肤癌以及男性前列腺癌等的发病风险。BRCA1/2突变患者存在共同的分子病理基础,将来可能独立于病理组织诊断之外,作为临床药物治疗的重要依据,包括铂类为代表的化疗药、PARP抑制剂、PD-1抗体、ALDH2抑制剂、mTOR抑制剂等。

Tumor suppressor genes breast cancer gene 1/2( BRCA1/2) play key roles in DNA damage repair pathways and are essential for maintaining genome integrity. The earliest studies found that BRCA1/2 are the main pathogenic factors of hereditary breast/ovari-an cancer syndrome, and the risk of breast cancer and ovarian cancer is greatly increased in BRCA1/2 mutation carriers. Recent studies have demonstrated that BRCA1/2 mutations also increased the risk of developing colon cancer, pancreatic cancer, skin cancer, and male prostate cancer. BRCA1/2 mutation patients have common molecular pathological basis, which may be independent of pathologi-cal tissue diagnosis in the future. Furthermore, it can serve as an important basis for clinical drug therapy, including chemotherapy drugs represented by platinum, PARP inhibitors, PD-1 antibodies, ALDH2 inhibitors, and mTOR inhibitors.