TY - JOUR
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
UR - https://publicatt.unicatt.it/handle/10807/148814
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85069297176&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85069297176&origin=inward
U2 - 10.1038/s41439-018-0006-x
DO - 10.1038/s41439-018-0006-x
M3 - Article
VL - 5
SP - 10
EP - 13
JO - Default journal
JF - Default journal
IS - 5
ER -
