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Prevalence of BRCA1 founder mutations in western Poland
Author(s) -
Jasinska Anna,
Krzyzosiak Wlodzimierz J.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(2001)17:1<75::aid-humu15>3.0.co;2-9
Subject(s) - biology , founder effect , genetics , mutation , evolutionary biology , gene , haplotype , genotype
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. © 2001 Wiley‐Liss, Inc.