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- Title
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
- Authors
Rahman, Nazneen; Seal, Sheila; Thompson, Deborah; Kelly, Patrick; Renwick, Anthony; Elliott, Anna; Reid, Sarah; Spanova, Katarina; Barfoot, Rita; Chagtai, Tasnim; Jayatilake, Hiran; McGuffog, Lesley; Hanks, Sandra; Evans, D Gareth; Eccles, Diana; Easton, Douglas F; Stratton, Michael R; Breast Cancer Susceptibility Collaboration (UK)
- Abstract
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.
- Publication
Nature genetics, 2007, Vol 39, Issue 2, p165
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1959