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Founder BRCA1/2 mutations in the Europe #3

Posted Jul 12 2010 1:24pm

Fortunately, recent advances in high-throughput mutation detection and screening techniques, such as high resolution melting (HRM) analysis [ 24 ] and conformation-sensitive capillary electrophoresis (CSCE) [ 25 ] 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 [ 26 ] 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 [ 27 ] 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


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