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
| Autor: | Giovanni Scambia, Ettore Capoluongo, Rossella De Leo, Alessandra Costella, Andrea Urbani, Giorgia Mazzuccato, Anna Fagotti, Paola Concolino, Donatella Guarino, Angelo Minucci, Marco D'Indinosante |
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| Přispěvatelé: | Costella, A., De Leo, R., Guarino, D., D'Indinosante, M., Concolino, P., Mazzuccato, G., Urbani, A., Scambia, G., Capoluongo, Ettore Domenico, Fagotti, A., Minucci, A. |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
lcsh:QH426-470 novel somatic BRCA2 variant Somatic cell lcsh:Life Computational biology Biology Biochemistry High Resolution Melt DNA sequencing 03 medical and health sciences symbols.namesake 0302 clinical medicine High-resolution melting analysis next-generation sequencing Data Report Genetics Allele Molecular Biology Sanger sequencing Variant allele lcsh:Genetics lcsh:QH501-531 030104 developmental biology Settore MED/40 - GINECOLOGIA E OSTETRICIA High-resolution melting analysi 030220 oncology & carcinogenesis symbols Identification (biology) |
| Zdroj: | Human Genome Variation Human Genome Variation, Vol 5, Iss 1, Pp 1-4 (2018) |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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