B2/FANCN: Recombining Cancer and Fanconi Anemia

Downlo ner and localizer of BRCA2 (PALB2) was originally identified as a BRCA2-interacting protein that is l for key BRCA2 genome caretaker functions. It subsequently became clear that PALB2 was another ni anemia (FA) gene (FANCN), and that monoallelic PALB2 mutations are associated with increased risk st and pancreatic cancer. Mutations in PALB2 have been identified in breast cancer families worldwide, cent studies have shown that PALB2 also interacts with BRCA1. Here, we summarize the molecular and re functions and clinical phenotypes of this key DNA repair pathway component and discuss how its discovery has advanced our knowledge of both FA and adult cancer predisposition. Cancer Res; 70(19); 7353–9. ©2010 AACR.