Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2006 Nov;38(11):1239-41.
doi: 10.1038/ng1902. Epub 2006 Oct 8.

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

Sheila Seal  1 , 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
Affiliations

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types