The High Risk Breast Cancer Gene: PALB2
10/13/2016 | Genetics 101
If you have a strong family history of breast cancer but tested negative for BRCA1 and BRCA2, there’s another key gene you may want to have checked – PALB2. A study published in The New England Journal of Medicine found that women under 40 years old with mutations in the PALB2 gene may have 8-9 times higher risk of developing breast cancer during their lifetime as compared to the general population.
Researchers from the University of Cambridge examined genetic information from 362 participants from 154 different families to help us learn more about the PALB2 gene. Each participant had at least 1 family member with breast cancer, tested negative for mutations in the known BRCA1 and BRCA2 genes and have a mutation in PALB2. They identified 311 women with a PALB2 mutation and calculated the risk for mutation carriers. This study, along with many others, suggests PALB2 could be regarded as the 3rd most important genetic player, following BRCA1 and BRCA2, in breast cancer susceptibility. Below are important things you should know about the PALB2 gene.