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Medline ® Abstract for Reference 63

of 'Overview of hereditary breast and ovarian cancer syndromes'

PALB2/FANCN: recombining cancer and Fanconi anemia.
Tischkowitz M, Xia B
Cancer Res. 2010 Oct;70(19):7353-9. Epub 2010 Sep 21.
Partner and localizer of BRCA2 (PALB2) was originally identified as a BRCA2-interacting protein that is crucial for key BRCA2 genome caretaker functions. It subsequently became clear that PALB2 was another Fanconi anemia (FA) gene (FANCN), and that monoallelic PALB2 mutations are associated with increased risk of breast and pancreatic cancer. Mutations in PALB2 have been identified in breast cancer families worldwide, and recent studies have shown that PALB2 also interacts with BRCA1. Here, we summarize the molecular 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.
Department of Oncology, McGill University, Montreal, Quebec, Canada. marc.tischkowitz@mcgill.ca