PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

PALB2 interacts with BRCA2, and biallelic mutations in PALB2 ( also known as FANCN), similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified monoallelic truncating PALB2 mutations in 10/ 923 individuals with familial breast cancer compared with 0/1,084 controls ( P= 0.0004) and show that such mutations confer a 2.3- fold higher risk of breast cancer ( 95% confidence interval (c.i.) 1.4 - 3.9, P =0.0025). The results show that PALB2 is a breast cancer susceptibility gene and further demonstrate the close relationship of the Fanconi anemia - DNA repair pathway and breast cancer predisposition.