The PALB2 mutation is associated with an increased risk of breast cancer.
The risk of pancreas cancer is in men and women with PALB2 mutations is not higher than 6% over a lifetime.
It is a rare cause of Fanconi Anemia.
Approximately 1 in 770 people in the general population are PALB2 mutation carriers so the chances of a PALB2 carrier having a child affected with Fanconi Anemia would be less than 1 in 3000.
Women with PALB2 mutations have a higher risk than the general population of developing breast cancer.
The relative risk for breast cancer is significant, varying according to the different studies between 3,4 and 9,47.
PALB2 mutation is associated with increased risk of triple negative breast cancer and higher risk of death from breast cancer.
No proven link between a PALB2 mutation and the occurrence of ovarian cancer.
About 2 to 4% of patients with familial pancreatic cancer have a PALB2 mutation.