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

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

^*Autore corrispondente per questo lavoro

Area Diagnostica di Laboratorio IRCCS
IRCCS Istituto Dermopatico dell'Immacolata - Roma

Risultato della ricerca: Contributo in rivista › Articolo

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 originale	Inglese
pagine (da-a)	10-13
Numero di pagine	4
Rivista	Default journal
Volume	5
Numero di pubblicazione	5
DOI	https://doi.org/10.1038/s41439-018-0006-x
Stato di pubblicazione	Pubblicato - 2018

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SDG 3 Salute e benessere

All Science Journal Classification (ASJC) codes

Biochimica
Biologia Molecolare
Genetica

Keywords

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

Accesso al documento

10.1038/s41439-018-0006-x

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Costella, A., De Leo, R., Guarino, D., D'Indinosante, M., Concolino, P., Mazzuccato, G., Urbani, A., Scambia, G., Capoluongo, E., Fagotti, A., & Minucci, A. (2018). 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. Default journal, 5(5), 10-13. https://doi.org/10.1038/s41439-018-0006-x

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title = "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",

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

author = "Alessandra Costella and \{De Leo\}, Rossella and Donatella Guarino and Marco D'Indinosante and Paola Concolino and Giorgia Mazzuccato and Andrea Urbani and Giovanni Scambia and Ettore Capoluongo and Anna Fagotti and Angelo Minucci",

year = "2018",

doi = "10.1038/s41439-018-0006-x",

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volume = "5",

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Costella, A, De Leo, R, Guarino, D, D'Indinosante, M, Concolino, P, Mazzuccato, G, Urbani, A, Scambia, G, Capoluongo, E, Fagotti, A & Minucci, A 2018, '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', Default journal, vol. 5, n. 5, pagg. 10-13. https://doi.org/10.1038/s41439-018-0006-x

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T1 - 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

AU - Costella, Alessandra

AU - De Leo, Rossella

AU - Guarino, Donatella

AU - D'Indinosante, Marco

AU - Concolino, Paola

AU - Mazzuccato, Giorgia

AU - Urbani, Andrea

AU - Scambia, Giovanni

AU - Capoluongo, Ettore

AU - Fagotti, Anna

AU - Minucci, Angelo

PY - 2018

Y1 - 2018

N2 - 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

AB - 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

KW - High-resolution melting analysis

KW - next-generation sequencing

KW - novel somatic BRCA2 variant

KW - High-resolution melting analysis

KW - next-generation sequencing

KW - novel somatic BRCA2 variant

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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

Abstract

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Keywords

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