Brief Communication abstract
Nature Genetics 39, 165 - 167 (2006) Published online: 31 December 2006 |
doi:10.1038/ng1959
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Nazneen Rahman1, Sheila Seal1, Deborah Thompson2, Patrick Kelly1, Anthony Renwick1, Anna Elliott1, Sarah Reid1, Katarina Spanova1, Rita Barfoot1, Tasnim Chagtai1, Hiran Jayatilake1, Lesley McGuffog2, Sandra Hanks1, D Gareth Evans3, Diana Eccles4, The Breast Cancer Susceptibility Collaboration (UK), Douglas F Easton2 & Michael R Stratton1,5
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.
- Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.
- Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, UK.
- Department of Medical Genetics, St. Mary's Hospital, Manchester M13 0JH, UK.
- Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 6YA, UK.
- Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs CB10 1SA, UK.
Correspondence to: Nazneen Rahman1 e-mail: nazneen.rahman@icr.ac.uk
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