November 28, 2017
Testing for BRCA1/2 Mutations
JAMA. 2017;318(20):2054. doi:10.1001/jama.2017.17280
Changes in genes called BRCA1 and BRCA2 increase a person’s risk of certain types of cancer, especially cancers of the breast and ovaries.
BRCA1 and BRCA2 are types of tumor suppressor genes—genes that produce special proteins needed to repair damaged DNA (genetic material) in cells. Certain mutations (changes) in these genes prevent the repair of damaged DNA. In turn, the presence of unrepaired DNA increases the risk of acquiring other mutations that contribute to the development of cancer.