How rare is the PALB2 gene mutation?

The PALB2 gene mutation is considered rare in the general population.

Research indicates that germline mutations in the PALB2 gene are uncommon, found in a very small percentage of individuals. Specifically, based on studies involving a large group of healthy controls, the rate of individuals positive for a PALB2 mutation is approximately 0.19%. This low prevalence was observed in a study of 5890 healthy individuals.

Prevalence of PALB2 Mutation

While PALB2 mutations are rare, they are known to be associated with an increased risk of breast cancer. This highlights the significance of understanding this gene, despite its low occurrence in the general population.