Article
Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant.
Familial cancer - 1 Jan 2019
De Bonis Maria, Minucci Angelo, Scaglione Giovanni Luca, De Paolis Elisa, Zannoni Gianfranco, Scambia Giovanni, Capoluongo Ettore
Abstract excerpt
Despite some populations show a wide spectrum of different BRCA pathogenic variants (PVs), particular ethnic groups carry at high frequency a single or a few recurrent PVs, usually due to a founder effect. The identification of these founder PVs, with simple molecular methods, improves BRCA1/2 testing and cancer risk assessment. In this study, we developed a rapid and reliable PCR method, coupled with capillary...
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