| Purpose of the guideline: |
BRCA1 and BRCA2 genes encode key functional proteins in the process of homologous recombination (HR) of DNA. They are core genes that maintain the stability of human genome as the important tumor suppressor genes. Loss of function of BRCA genes can lead to dysrepair of DNA damage and increase the risk of tumor development. At present, it has been confirmed that BRCA genes have a large number of pathogenic germline mutations and are closely associated with the risk of a variety of tumors, especially familial breast and ovarian cancer, as well as pancreatic cancer, prostate cancer, and melanoma. Compared with the "diagnostic" effect of BRCA gene testing in the cancer population, BRCA gene testing can play a "predictive" role in healthy people, especially in high-risk groups with a family history of cancer or abnormal signs of mammography, transvaginal ultrasound or serum tumor markers. Screening for BRCA1 and BRCA2 mutations, as well as early prevention and intervention, has been shown to reduce the risk of associated tumors and death in young individuals or those with a family history of breast and ovarian cancer. Therefore, screening for BRCA germline mutations in apparently normal people with potential tumor risk is an important measure for prevention and early detection of cancer.
In the past five years, China has successively formed a series of guidelines and consensus for BRCA gene detection, data interpretation, and individualized treatment program selection for cancer patients, providing a clear reference for detection indications, detection methods, and detection results interpretation. However, screening for BRCA mutations in the normal population is still in the primary stage, with only a few single-center, regional data reported. The continuous decline in testing costs and the entry of compliance kits into the market have greatly improved the accessibility of BRCA mutation screening, and also put forward higher standardization requirements for related testing work. |
