Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles - PubMed (original) (raw)

. 2006 Nov;38(11):1239-41.

doi: 10.1038/ng1902. Epub 2006 Oct 8.

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; Breast Cancer Susceptibility Collaboration (UK); Douglas F Easton, Michael R Stratton, Nazneen Rahman

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

Sheila Seal et al. Nat Genet. 2006 Nov.

Abstract

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. 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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