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

• DOI: 10.1038/s41439-018-0006-x
• Publication Date: 2018-06-08T06:41:47Z
• 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
• Keywords: Sanger sequencing; High Resolution Melt; Identification

In a 72-year-old woman with no associated personal or family history of breast and/or ovarian cancers, we identified novel somatic pathogenic BRCA2 variant (c.18_28delAGAGAGGCCAA, p.Lys6Asnfs*4) using next-generation sequencing (NGS). The allele frequency (VAF) was 16%, and Sanger unable to identify this variant. Adopting high-resolution melting analysis strategy coupled NGS, successfully highlighted the presence c.18_28delAGAGAGGCCAA allele.