Which genetic mutations increase the risk for breast cancer?

Updated: Dec 16, 2019
  • Author: Jessica Katz, MD, PhD, FACP; Chief Editor: Marie Catherine Lee, MD, FACS  more...
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Answer

Answer

Although 20-30% of women with breast cancer have at least one relative with a history of breast cancer, only 5-10% of women with breast cancer have an identifiable hereditary predisposition. BRCA1 and BRCA2 mutations are responsible for 3-8% of all cases of breast cancer and 15-20% of familial cases. Rare mutations include PTEN, TP53, MLH1, MLH2, and STK11 genes, as well as ATM, BRIP1, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, and SEC23B.


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