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Article 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 variant (, 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 allele.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993729 | PMC |
| http://dx.doi.org/10.1038/s41439-018-0006-x | DOI Listing |
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