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Familial Cancer
Published in: Familial Cancer 1/2019

01-01-2019 | Original Article

Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant

Authors: Maria De Bonis, Angelo Minucci, Giovanni Luca Scaglione, Elisa De Paolis, Gianfranco Zannoni, Giovanni Scambia, Ettore Capoluongo

Published in: Familial Cancer | Issue 1/2019

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Abstract

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 electrophoresis (CE) for genotyping the Italian founder BRCA1 c.4964_4982del19 (rs80359876) variant. In addition, we compared the performance of two CE platforms: (Agilent 2100 Bioanalyzer and the Experion Automated Electrophoresis system) to identify this variant. Our findings suggest that CE represents a simple and standardized diagnostic strategy for the unambiguously identification of the BRCA1 c.4964_4982del19 variant, on both germline and somatic DNA samples. The results and performance obtained by two platforms are absolutely superimposable in terms of specificity and sensitivity, as well as for their feasibility, time of analysis and costs.
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Metadata
Title
Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant
Authors
Maria De Bonis
Angelo Minucci
Giovanni Luca Scaglione
Elisa De Paolis
Gianfranco Zannoni
Giovanni Scambia
Ettore Capoluongo
Publication date
01-01-2019
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 1/2019
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-018-0094-2

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