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.

Author affiliations

1. Department of Medicine and Center for Clinical Cancer Genetics, University of Chicago, Box MC2115, 5841 S. Maryland Avenue, Chicago, Illinois 60615, USA.

Correspondence to: Olufunmilayo I. Olopade¹ Email: folopade@bsd.uchicago.edu

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