High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report

In a 72-year-old woman with no associated personal or family history of breast and/or ovarian cancers, we identified a novel somatic pathogenic BRCA2 variant (c.18_28delAGAGAGGCCAA, p.Lys6Asnfs*4) using next-generation sequencing (NGS). The variant allele frequency (VAF) was 16%, and Sanger sequenci...

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Detalles Bibliográficos
Autores principales: Costella, Alessandra, De Leo, Rossella, Guarino, Donatella, D’Indinosante, Marco, Concolino, Paola, Mazzuccato, Giorgia, Urbani, Andrea, Scambia, Giovanni, Capoluongo, Ettore, Fagotti, Anna, Minucci, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993729/
https://www.ncbi.nlm.nih.gov/pubmed/29899995
http://dx.doi.org/10.1038/s41439-018-0006-x
Descripción
Sumario:In a 72-year-old woman with no associated personal or family history of breast and/or ovarian cancers, we identified a novel somatic pathogenic BRCA2 variant (c.18_28delAGAGAGGCCAA, p.Lys6Asnfs*4) using next-generation sequencing (NGS). The variant allele frequency (VAF) was 16%, and Sanger sequencing was unable to identify this variant. Adopting a high-resolution melting analysis strategy coupled with NGS, we successfully highlighted the presence of the c.18_28delAGAGAGGCCAA allele.

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