PALB2 loss-of-function variants are associated with lifetime risks of breast cancer of 24% to 54%, depending on the extent of family history of breast cancer.

While biallelic mutations in the PALB2 tumor suppressor cause Fanconi anemia subtype FA-N, monoallelic mutations predispose to breast and familial pancreatic cancer.

Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2 are at a highly increased lifetime risk for developing breast cancer.