The Other Breast Cancer Gene: PALB2

The Other Breast Cancer Gene: PALB2

Genetics, family history and breast cancer risk – now there’s a complicated subject. Much has been reported on the more common BRCA1 and BRCA2 genetic mutations and their associated risks, but other genes have a role. Researchers are beginning to uncover further genetic variations and have begun to study their implications for breast cancer risk.  


One of these studies is making the local news rounds: a study on mutations in the PALB2 gene.   The New England Journal of Medicine published the study recently examining a group of patients in the UK with the mutation. Here are two important facts:  

  • PALB2 mutation carriers have a 35% chance of breast cancer by the age of 70. This is not as high a risk as BRCA mutation carriers but still significantly more than the average population.
  • The PALB2 mutation means that for women younger than forty, they face a risk of breast cancer approximately 8-9x higher than their peers.


As with the more common BRCA mutations, the percentage of the population affected by this genetic variation is small (and yet to be accurately measured). A history of breast cancer in the family – whether by known genetic mutations or unknown factors – is a serious issue and should prompt a discussion with your doctor or genetic counselor on specific breast screening strategies based on that history.  


Remember though as we learn more about PALB2, most cases of breast cancer (upwards of 75%) occur with zero family history. Not having relatives with breast cancer does not make you exempt – if you have breasts, are getting older and are female, you are at risk and need routine screening!   If you’d like to read more about PALB2, the NEJM study can be found here.    





Image credit: PALB2 BRCA2 by Antony Oliver via Wikimedia Commons Copyright Creative Commons Attribution-Share Alike 3.0 Unported license

Originally published 8/19/14 on