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

Alessandra Costella; Rossella De Leo; Donatella Guarino; Marco D'Indinosante; Paola Concolino; Giorgia Mazzuccato; Andrea Urbani; Giovanni Scambia; Ettore Capoluongo; Anna Fagotti; Angelo Minucci

doi:10.1038/s41439-018-0006-x

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

Hum Genome Var. 2018 Jun 8:5:10. doi: 10.1038/s41439-018-0006-x. eCollection 2018.

Authors

Alessandra Costella¹, Rossella De Leo², Donatella Guarino¹, Marco D'Indinosante², Paola Concolino^{1

3}, Giorgia Mazzuccato¹, Andrea Urbani^{1

3

4}, Giovanni Scambia², Ettore Capoluongo^{3

5}, Anna Fagotti², Angelo Minucci^{1

3}

Affiliations

¹ 1Area Diagnostica di Laboratorio IRCCS, Rome, Italy.
² Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Rome, Italy.
³ Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital "Agostino Gemelli" Foundation, Rome, Italy.
⁴ 4Proteomics and Metabolomics Unit, IRCCS-Santa Lucia Foundation, Rome, Italy.
⁵ 5Laboratory of Clinical Pathology and Advanced Molecular Diagnostics, Istituto Dermopatico dell'Immacolata -IRCCS, Rome, Italy.

Abstract

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.

Keywords: High-resolution melting analysis; next-generation sequencing; novel somatic BRCA2 variant.

Publication types

Case Reports