期刊
NATURE GENETICS
卷 38, 期 11, 页码 1239-1241出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1902
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资金
- Medical Research Council [G0000934] Funding Source: Medline
- Wellcome Trust [068545/Z/02] Funding Source: Medline
- Breast Cancer Now [2003:592] Funding Source: Medline
- MRC [G0000934] Funding Source: UKRI
- Medical Research Council [G0000934] Funding Source: researchfish
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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