Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5509678 | Clinica Chimica Acta | 2017 | 31 Pages |
Abstract
C-PCR-HRMA has proved to be an innovative, efficient and fast method for BRCA1 LGRs detection. Given the sensitivity, specificity and ease of use, c-PCR-HRMA can be considered an attractive and powerful alternative to other methods for BRCA1 CNVs screening, improving molecular strategies for BRCA testing in the context of Massive Parallel Sequencing.
Keywords
CNVHBOCHGSOCBRCAALBHRMAMLPABRCA1/2Albuminstandard deviationHigh resolution melting analysismultiplex ligation-dependent probe amplificationcopy number variationMassively parallel sequencingMassive parallel sequencingannealing temperatureMelting Temperaturehigh-grade serous ovarian cancerhereditary breast/ovarian cancerMPsPathogenic variant
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Authors
Angelo Minucci, Elisa De Paolis, Paola Concolino, Maria De Bonis, Roberta Rizza, Giulia Canu, Giovanni Luca Scaglione, Flavio Mignone, Giovanni Scambia, Cecilia Zuppi, Ettore Capoluongo,