While BRCA1 and BRCA2 are well known to be associated with breast cancer risk, a number of other genetic mutations also increase the risk of this disease.

High-penetrance genes include PTEN and p53. Other mutations such as those in CHEK2, ATM, and PALB2 are associated with moderate risk.

While the development of large-panel testing has allowed for the detection of many mutations that may be associated with increased risk, some are of very low penetrance. For example, STK11 was found to be associated with a pathogenic mutation in 0.01% of breast cancers.

Filippini SE, Vega A. Breast cancer genes: beyond BRCA1 and BRCA2. Front Biosci (Landmark Ed). 2013;18:1358-1372.

Lerner-Ellis J, Khalouei S, Sopik V, Narod SA. Genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.

Expert Rev Anticancer Ther. 2015;15:1315-1326.

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