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Brief Communication

Nature Genetics 38, 1239–1241 (1 November 2006) | doi:10.1038/ng1902

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

Sheila Seal , Deborah Thompson , Anthony Renwick , Anna Elliott , Patrick Kelly , Rita Barfoot , Tasnim Chagtai , Hiran Jayatilake , Munaza Ahmed , Katarina Spanova , Bernard North , Lesley McGuffog , D Gareth Evans , Diana Eccles , Douglas F Easton , Michael R Stratton & Nazneen Rahman

We 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.