My Blue Dots Blog

Mutation in PALB2 associated with increased breast cancer risk

Mutation in PALB2 associated with increased breast cancer risk

October 1, 2014

By Michelle Jin

It is well known that mutations in the BRCA1 and BRCA2 genes are associated with increased breast cancer risk. However, a new study identifies another protein, PALB2, that when mutated, is associated with 48% increased risk in developing breast cancer. The wild-type (non-mutated) PALB2’s function is to repair damaged DNA and suppress tumor development. It logically follows that if there is a loss-of-function mutation in this gene, the carrier would have an increased risk of DNA damage and subsequently at higher risk for developing cancer. This study included participants from 154 families, each family with at least one member with PALB2 mutation and had breast cancer. Analysis found that mutation of the PALB2 gene is associated with an increased risk of developing breast cancer by a factor of 9.47, compared to participants without the mutation. Furthermore, there is an age-specific risk among participants with PALB2 mutation, such that an increased risk with age. The cumulative risk of breast cancer in female participants is 14% by age 50, and 35% by page 70.

The discovery of mutated PALB2’s association to increased breast cancer risk is crucial to the early identification of breast cancer. With the availability of genetic testing, we could reveal the presence of mutated breast cancer related genes and take early action for prevention or treatment.

Article citation: Antonious AC, Casadei S, Heikkinen T, et al. 2014. Breast-Cancer Risk in Families with Mutations in PALB2. The New England Journal of Medicine. 371:497-506.
Contributing Author: Michelle is a recent graduate from Stanford University and a clinical research coordinator at the Stanford Cancer Center. She first got interested in cancer research when her grandmother was diagnosed with lung cancer and passed away at a young age. Michelle hopes to contribute to cancer research and one day become a physician to help more people.