Breast cancer detection kit Brcasen®

geneticleadBRCA1 gene

The susceptible genes for breast cancer, including BRCA1 and BRCA2, are important tumor suppressor genes that play a role in homologous recombination repair (HRR) of DNA damage. Mutations in the BRCA1/2 genes can lead to homologous recombination deficiency (HRD), resulting in a significant increase in genomic instability. The variant status of the BRCA1/2 genes is of significant importance in genetic risk assessment, treatment selection, and prognosis determination for related tumors such as ovarian cancer, breast cancer, pancreatic cancer, prostate cancer, etc. The BRCA1/2 genes have relatively long sequences and diverse forms of mutations, with mutation sites scattered throughout the entire length of both genes. Therefore, BRCA1/2 gene testing must simultaneously cover the coding regions and adjacent boundary regions (ideally within ±20 bp) [1]. BRCA AND HEREDITY Germline mutations in the BRCA1/2 genes originate in reproductive cells, significantly increasing the risk of developing breast cancer, ovarian cancer, and other related tumors [1]. About 10% of breast cancer patients [2-3], 10-15% of ovarian cancer patients [4], and 10% of prostate cancer patients [5] are caused by germline mutations in the BRCA1/2 genes. BRCA AND TREATMENT The variant status of BRCA1/2 genes is closely related to the effectiveness of Poly(ADP-ribose) polymerase (PARP) inhibitors. In recent years, the FDA and NMPA have approved a variety of PARP inhibitors for the treatment of related tumors [1]. Approximately 20% of ovarian cancer patients carry BRCA1/2 gene mutations [7], making them the population that benefits the most from maintenance treatment with PARP inhibitors.