In a case study published in Human Genome Variation (Costella et al. 2018), a novel somatic pathogenic variant of the BRCA2 gene was identified using the Devyser BRCA kit for next-generation sequencing (NGS). The paper concludes that the Devyser BRCA kit is able to detect variants at low admixture levels in tissue, simplifying what has traditionally been a challenging identification process.
This case study highlights a patient with a high-grade serous ovarian cancer (HGSOC), with no personal or family history of breast or ovarian cancers. Testing for known pathogenic variants was negative, however NGS testing of a fresh tissue section revealed a novel, ten bp deletion variant in exon 2 of the BRCA2 gene, present only in a low variant allele frequency (VAF). The deletion was further confirmed using high-resolution melting analysis (HRMA) and capillary electrophoresis, but could not be confirmed by traditional Sanger sequencing, probably due to the low VAF