-
- Nazneen Rahman, Sheila Seal, Deborah Thompson, Patrick Kelly, Anthony Renwick, Anna Elliott, Sarah Reid, Katarina Spanova, Rita Barfoot, Tasnim Chagtai, Hiran Jayatilake, Lesley McGuffog, Sandra Hanks, D Gareth Evans, Diana Eccles, Breast Cancer Susceptibility Collaboration (UK), Douglas F Easton, and Michael R Stratton.
- Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK. nazneen.rahman@icr.ac.uk
- Nat. Genet. 2007 Feb 1; 39 (2): 165-7.
AbstractPALB2 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.
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