The landscape of testing for hereditary cancer predisposition genes has been in rapid evolution. Recently developed tests can evaluate up to 43 genetic mutations associated with increased risk for a variety of cancers including breast cancer. Using data collected from our clinics, my Breastlink colleagues and I have analyzed how safe and effective these newer multi-gene tests are in comparison to previous methods of genetic testing.

The Development of Multi-Gene Tests for Breast Cancer Risk

Two key events have helped change the face of genetic testing:

Inherited genetic mutations can increase a woman’s risk of developing breast cancer. For instance, a mutation in two of the better-understood genes linked to a substantial increased risk of breast cancer, the BRCA1 and BRCA2 genes, account for up to:

Our understanding of breast cancer is rapidly advancing. Breast cancer is not a single disease entity, but a heterogeneous disease spectrum with numerous genetic alterations involved in its pathogenesis.