BACKGROUND: Currently, multiplex ligation-dependent probe amplification (MLPA) is the most commonly used technique for the detection of large genomic rearrangements (LGRs) in the BRCA1/2 genes. However, a very fast assay, the BRCA1/2 multiplex amplicon quantification (MAQ), has been recently developed by Multiplicom. METHODS: As no data regarding the application of MAQ method to BRCA1/2 genes are available in literature, here we compared for the first time the performance of the MAQ assay with MLPA by using several positive BRCA1/2 LGRs DNA samples (previously tested by MLPA). RESULTS: MAQ method was able to detect all BRCA1/2 LGRs and no false-positive or -negative results were obtained in independent repetitive experiments. CONCLUSIONS: We can affirm that MAQ, as well as MLPA method, results to be valid and reproducible tools for molecular diagnostics and we are confident that this assay can be used for BRCA1/2 mutational screening as a fast and safe alternative to MLPA, particularly in the first line of analysis.
BACKGROUND: Currently, multiplex ligation-dependent probe amplification (MLPA) is the most commonly used technique for the detection of large genomic rearrangements (LGRs) in the BRCA1/2 genes. However, a very fast assay, the BRCA1/2 multiplex amplicon quantification (MAQ), has been recently developed by Multiplicom. METHODS: As no data regarding the application of MAQ method to BRCA1/2 genes are available in literature, here we compared for the first time the performance of the MAQ assay with MLPA by using several positive BRCA1/2 LGRs DNA samples (previously tested by MLPA). RESULTS:MAQ method was able to detect all BRCA1/2 LGRs and no false-positive or -negative results were obtained in independent repetitive experiments. CONCLUSIONS: We can affirm that MAQ, as well as MLPA method, results to be valid and reproducible tools for molecular diagnostics and we are confident that this assay can be used for BRCA1/2 mutational screening as a fast and safe alternative to MLPA, particularly in the first line of analysis.
Authors: Maria De Bonis; Angelo Minucci; Giovanni Luca Scaglione; Elisa De Paolis; Gianfranco Zannoni; Giovanni Scambia; Ettore Capoluongo Journal: Fam Cancer Date: 2019-01 Impact factor: 2.375
Authors: Renato S Carvalho; Renata B V Abreu; Aneliya Velkova; Sylvia Marsillac; Renato S Rodarte; Guilherme Suarez-Kurtz; Edwin S Iversen; Alvaro N A Monteiro; Marcelo A Carvalho Journal: PLoS One Date: 2014-05-20 Impact factor: 3.240
Authors: Giovanni Luca Scaglione; Paola Concolino; Maria De Bonis; Elisa De Paolis; Angelo Minucci; Gabriella Ferrandina; Giovanni Scambia; Ettore Capoluongo Journal: Int J Mol Sci Date: 2018-03-23 Impact factor: 5.923
Authors: Alessandra Costella; Rossella De Leo; Donatella Guarino; Marco D'Indinosante; Paola Concolino; Giorgia Mazzuccato; Andrea Urbani; Giovanni Scambia; Ettore Capoluongo; Anna Fagotti; Angelo Minucci Journal: Hum Genome Var Date: 2018-06-08
Authors: Angelo Minucci; Paola Concolino; Maria De Bonis; Alessandra Costella; Ida Paris; Giovanni Scambia; Ettore Capoluongo Journal: Hum Genome Var Date: 2018-04-20