Many different mutations have been identified in the breast and ovarian cancer susceptibility gene, BRCA1. Since BRCA1 is a large gene and mutation screening cannot be targeted to a small number of potential mutation sites, the screening process is time consuming and expensive.
Gorski and his colleagues from the Pomeranian Academy of Medicine in Poland, have examined Polish families that are affected by breast and ovarian cancer for the presence of prevalent mutations in BRCA1.
Three recurrent BRCA1 mutations have been identified in this population, suggesting the presence of founder mutations. These recurrent mutations, 5382insC, C61G, and 4153delA, constitute 82% of the BRCA1 mutations recognized in this study.
The identification of recurrent mutations in specific populations leads to more cost-effective and rapid screening of individuals for BRCA1 mutations, as it allows diagnostic laboratories to pinpoint their efforts to the DNA sequences containing these recurrent mutations. Thus, they can diagnose a majority of mutations without having to perform extensive DNA analysis.
Such information is valuable, not only for families in Poland, but also for families of Polish descent, a substantial number of whom reside in North America.
American Journal of Human Genetics