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Updated: Feb 9, 2026

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis
Published on: August 26, 2020
High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a
Alessandra Costella1, Rossella De Leo2, Donatella Guarino1
11Area Diagnostica di Laboratorio IRCCS, Rome, Italy.
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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