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

Andrea Urbani, Giovanni Scambia, Anna Fagotti, Donatella Guarino, Marco D'Indinosante, Ettore Domenico Capoluongo, Angelo Minucci

Risultato della ricerca: Contributo in rivistaArticolo in rivista

3 Citazioni (Scopus)

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
Lingua originaleEnglish
pagine (da-a)10-13
Numero di pagine4
RivistaNot available
Volume5
DOI
Stato di pubblicazionePubblicato - 2018

Keywords

  • High-resolution melting analysis
  • next-generation sequencing
  • novel somatic BRCA2 variant

Fingerprint

Entra nei temi di ricerca di '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'. Insieme formano una fingerprint unica.

Cita questo