Nature Genetics
- 38, 1239 - 1241 (2006)
Published online: 8 October 2006; | doi:10.1038/ng1902
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility allelesSheila Seal1, Deborah Thompson2, Anthony Renwick1, Anna Elliott1, Patrick Kelly1, Rita Barfoot1, Tasnim Chagtai1, Hiran Jayatilake1, Munaza Ahmed1, Katarina Spanova1, Bernard North1, Lesley McGuffog2, D Gareth Evans3, Diana Eccles4, The Breast Cancer Susceptibility
Collaboration (UK), Douglas F Easton2, Michael R Stratton1, 5 & Nazneen Rahman11
Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK. 2
Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge CB1 8RN, UK. 3
Department of Medical Genetics, St. Mary's Hospital, Manchester M13 0JH, UK. 4
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton S016 6YA, UK. 5
Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs CB10 1SA, UK.
Correspondence should be addressed to Nazneen Rahman nazneen.rahman@icr.ac.uk BRIP1BRCA1BRCA2We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation–negative families but in only 2/2,081 controls (P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2–3.2, P = 0.012). Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers.
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