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
Costella, A., De Leo, R., Guarino, D., D'Indinosante, M., Concolino, P., Mazzuccato, G., Urbani, A., Scambia, G., Capoluongo, E. D., Fagotti, A., Minucci, A., 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, 2018; 5 (5): 10-13. [doi:10.1038/s41439-018-0006-x] [http://hdl.handle.net/10807/148814]
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
Guarino, Donatella;D'Indinosante, Marco;Urbani, Andrea;Scambia, Giovanni;Capoluongo, Ettore Domenico;Fagotti, Anna;Minucci, Angelo
2018
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
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