Prevalence of BRCA1 founder mutations in western Poland. Jasinska, A. & Krzyzosiak, W., J. Hum Mutat, 17(1):75., 2001.
abstract   bibtex   
The frequency of three BRCA1 founder mutations was examined in a group of Polish breast/ovarian cancer patients and women at increased risk of these cancers based on family history. Among the 15 mutations found (5385-5386insC, 187-188delAG, and 4154delA), eight were detected in women with a low or moderate family history. The frequency of the IVS20+48ins12 variant was also analyzed and its distribution within risk groups argues against its involvement in cancer predisposition.
@article{
 title = {Prevalence of BRCA1 founder mutations in western Poland},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Founder Effect,Adult,Aged,Breast Neoplasms/epidemiology/genetics,Female,Genes, BRCA1/*genetics,Human,Middle Age,Mutation/*genetics,Ovarian Neoplasms/epidemiology/genetics,Poland/epidemiology,Prevalence,Support, Non-U.S. Gov't},
 pages = {75.},
 volume = {17},
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 abstract = {The frequency of three BRCA1 founder mutations was examined in a group of Polish breast/ovarian cancer patients and women at increased risk of these cancers based on family history. Among the 15 mutations found (5385-5386insC, 187-188delAG, and 4154delA), eight were detected in women with a low or moderate family history. The frequency of the IVS20+48ins12 variant was also analyzed and its distribution within risk groups argues against its involvement in cancer predisposition.},
 bibtype = {article},
 author = {Jasinska, A and Krzyzosiak, W J},
 journal = {Hum Mutat},
 number = {1}
}

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