The application of a hybridisation-based NGS enrichment panel for the analysis of somatic variants in tumour samples and reference standards
Jacqueline Chan , Lyudmila Georgieva , Sabine Eckert , Faidra Partheniou and Graham Speight
Presented at the 42nd Association of Genetic Technologists (AGT) 2017 annual meeting in St Louis, USA, this poster outlines the application of a hybridisation-based next-generation sequencing enrichment panel for the analysis of solid tumour somatic variants, demonstrating 100% concordance in variant detection in both genomic and formalin-compromised DNA and superior uniformity of coverage from hybridisation-based enrichment when compared to an amplicon-based method in key exons of BRCA1 and BRCA2.
- Breast and Ovarian cancers are some of the most common cancers in women.
- Next-generation sequencing (NGS) has enabled the simultaneous study of mutations in high penetrance breast cancer predisposition genes.
- These include BRCA1, BRCA2, TP53, PTEN, and PIK3CA, as well as more moderate risk genes such as PALB2, BRIP1, RAD51C and RAD51D.
Using OGT’s extensive background in bait design we have developed a range of fully tested and optimised baits targeting all coding exons of a range of key cancer-related genes (Table 1).
Table 1: Key breast and ovarian cancer-related genes with empirically tested bait sets available in the SureSeq myPanel™ range.
To evaluate the application of a hybridisation-based approach we:
- Compared the uniformity of coverage between a PCR amplification-based and the SureSeq™ hybridisation-based enrichment approach for BRCA1 and BRCA2 in solid tumour samples.
- Assessed the performance of a custom panel (ALK, KIT, EGFR, KRAS, and TP53) from the SureSeq myPanel NGS Custom Cancer Panel range using the Quantitative Multiplex Reference Standard – gDNA and formalin-compromised DNA, from Horizon.
To view the full poster please enter your details below:
Before you can download this please fill in some details.