Founder populations and their uses for breast cancer genetics

Breast Cancer Res. 2000;2(2):77-81. doi: 10.1186/bcr36. Epub 2000 Feb 7.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Aged
  • BRCA2 Protein
  • Breast Neoplasms / genetics*
  • Female
  • Genes, BRCA1 / genetics*
  • Genetic Testing
  • Heterozygote*
  • Humans
  • Male
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Penetrance
  • Probability
  • Risk Factors
  • Transcription Factors / genetics*

Substances

  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors