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Updated: Jul 9, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
James D Fackenthal1, Olufunmilayo I Olopade
1Department of Medicine and Center for Clinical Cancer Genetics, University of Chicago, Box MC2115, 5841 S. Maryland Avenue, Chicago, Illinois 60615, USA.
Abstract:
Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors of breast and/or ovarian cancer development. The contribution of these mutations to breast cancer risk within any specific population is a function of both their prevalence and their penetrance. Mutation prevalence varies among ethnic groups and may be influenced by founder mutations. Penetrance can be influenced by mutation-specific phenotypes and the potential modifying effects of the patient's own genetic and environmental background. Although estimates of both mutation prevalence and mutation penetrance rates are inconsistent and occasionally controversial, understanding them is crucial for providing accurate risk information to each patient.
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