Founder populations and their uses for breast cancer genetics
Open Access
- 1 April 2000
- journal article
- review article
- Published by Springer Nature in Breast Cancer Research
- Vol. 2 (2) , 77-81
- https://doi.org/10.1186/bcr36
Abstract
Numerous founder mutations have been reported in BRCA1 and BRCA2. For genetic screening of a population with a founder mutation, testing can be targeted to the mutation, allowing for a more rapid and less expensive test. In addition, more precise estimates of the prior probability of carrying a mutation and of the likelihood of a mutation carrier developing cancer should be possible. For a given founder mutation a large number of carriers are available, so that focused scientific studies of penetrance, expression, and genetic and environmental modifiers of risk can be performed. Finally, founder populations may be a powerful resource to localize additional breast cancer susceptibility loci, because of the reduction in locus heterogeneity.Keywords
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