Title |
Founder populations and their uses for breast cancer genetics
|
---|---|
Published in |
Breast Cancer Research, April 2000
|
DOI | 10.1186/bcr36 |
Pubmed ID | |
Authors |
Susan L Neuhausen |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Russia | 1 | 2% |
Australia | 1 | 2% |
Canada | 1 | 2% |
Brazil | 1 | 2% |
Unknown | 52 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 11 | 20% |
Student > Ph. D. Student | 10 | 18% |
Student > Doctoral Student | 5 | 9% |
Other | 4 | 7% |
Researcher | 3 | 5% |
Other | 9 | 16% |
Unknown | 14 | 25% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 17 | 30% |
Medicine and Dentistry | 10 | 18% |
Biochemistry, Genetics and Molecular Biology | 8 | 14% |
Arts and Humanities | 2 | 4% |
Unspecified | 1 | 2% |
Other | 4 | 7% |
Unknown | 14 | 25% |