BRCA1 and BRCA2 are tumor suppressor genes that encode proteins involved in DNA repair and cell cycle regulation. Mutations in these genes can impair their function and increase the risk of developing various cancers, especially breast and ovarian cancer. BRCA mutations can be inherited from one or both parents, or acquired somatically during a person’s lifetime. Genetic testing can identify individuals who carry BRCA mutations and help them make informed decisions about cancer prevention and treatment.
The association between BRCA mutations and cancer risk is influenced by several factors, such as the type and location of the mutation, the presence of other genetic or environmental modifiers, and the sex and age of the individual. BRCA mutations can also affect the response to certain therapies, such as PARP inhibitors, which target cancer cells with defective DNA repair mechanisms. Therefore, understanding the role of BRCA genes in cancer biology and clinical practice is essential for improving the outcomes of patients with BRCA-related cancers.
“The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing.” (GRADE:B)
“The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations.” (GRADE:D)
Resources:
https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
