Founder populations and their uses for breast cancer genetics.
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.
University of Utah School of Medicine, Salt Lake City, Utah, USA. susan@episun5.med.utah.edu
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D000328:Adult; D000368:Aged; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D019683:Penetrance; D011336:Probability; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*
D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors