Beyond BRCA: New hereditary breast cancer susceptibility genes

• Sequencing of specific genes can identify families at risk of breast cancer.
• Multigene panel testing should be performed after consultation with a cancer geneticist.
• There is no consensus on when to use expanded models of testing.
• High penetrant breast cancer genes include TP53, PTEN, SKT-11, CDH1 and PALB2.

Approximately 5–10% of breast cancer cases might be inheritable, up to 30% of which are due to BRCA1/2 mutations. During the past few years and thanks to technology evolution, we have been witnesses of an intensive search of additional genes with similar characteristics, under the premise that successful gene discovery will provide substantial opportunities for primary and secondary prevention of breast cancer. Consequently, new genes have emerged as breast cancer susceptibility genes, including rare germline mutations in high penetrant genes, such as TP53 and PTEN, and more frequent mutations in moderate penetrant genes, such as CHEK2, ATM and PALB2. This review will summarize current data on new findings in breast cancer susceptibility genes.