Founder BRCA1/2 mutations in the Europe #3 July 12, 2010Posted by ramunas in BRCA, breast cancer, cancer genetics, genetic testing, ovarian cancer.
Fortunately, recent advances in high-throughput mutation detection and screening techniques, such as high resolution melting (HRM) analysis  and conformation-sensitive capillary electrophoresis (CSCE)  are especially promising rapid, sensitive, cost-efficient and ammenable for automation screening approaches for the large genes, whereas decreased cost in genotyping methods offers affordable targeted testing option for predefined set of mutations.
Massively parallel next-generation sequencing platforms  provide another technological breakthrough, however they are still at a prohibited cost and complex data overload for routine use.
On the other hand, variation in the distribution of BRCA1 and BRCA2 mutations is well recognized worldwide  and several recent reviews already summarized the evidence, that in certain countries and ethnic communities the BRCA1/2 mutation spectrum is limited to a few founder mutations [3, 4, 6, 28]. Founder effects are most prominent in geographically, culturally or religiously isolated populations that undergo rapid expansion from a limited number of ancestors, when, as a consequence of low genetic diversity, some alleles become more frequent.
Full review article: Janavicius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control