Implication of BRCA1/2 gene detection in malignant tumors / 中国肿瘤临床

ABSTRACT

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.