Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 2 (2), 77-81

Founder Populations and Their Uses for Breast Cancer Genetics


Founder Populations and Their Uses for Breast Cancer Genetics

S L Neuhausen. Breast Cancer Res.


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.

Similar articles

See all similar articles

Cited by 13 PubMed Central articles

See all "Cited by" articles


    1. Kaback M, Lim-Steele J, Dabholkar D, et al. Tay-Sachs disease: carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA. 1993;270:2307–2315. - PubMed
    1. de la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet. 1993;30:857–865. - PMC - PubMed
    1. Diamond JM, Rotter JI. Observing the founder effect in human evolution [news]. Nature. 1987;329:105–106. - PubMed
    1. Puffenberger EG, Kauffman ER, Bolk S, et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet. 1994;3:1217–1225. - PubMed
    1. Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66–71. - PubMed

Publication types