PALB2 gene mutation & breast cancer: What it means for you

August 7, 2014 Swedish Blogger

PALB2 is a gene that was first linked to hereditary breast cancer risk back in 2007. Today’s Seattle Times reports on a recent study about PALB2 that was just published in the New England Journal of Medicine. The study, the largest to date, detailed the breast cancer risks faced by women – and to a lesser extent, men – who carry a mutation in their PALB2 gene. The breast cancer risks were several times greater than the ~12% risk faced by all women, and varied with the woman’s age and family history. Currently, there is no consistent evidence to suggest that men or women who carry a single PALB2 gene mutation are at greater risks of developing ovarian or other cancers.

PALB2 genetic testing can provide very important information that can help women and their families better understand and reduce their risks of developing breast cancer. However, even among women with a very strong personal or family history of breast cancer, very few will test positive. Studies suggest that only about 1-3% of high risk women will carry a PALB2 mutation. In my personal experience, I have tested about 300 high risk women for PALB2 mutations, and have yet to find a single mutation carrier.

PALB2 genetic testing is not currently available as a standalone genetic test. However, the PALB2 gene is included on most of the multigene hereditary cancer panels that are now offered by several laboratories. Some but not all insurers cover these multigene panels.

If you are interested in learning more about PALB2 testing, you can schedule an appointment with one of the genetic counselors at the Hereditary Cancer Clinic.

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