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Contributors

Jacqueline Chan1 , Lyudmila Georgieva1 , Sabine Eckert1 , Faidra Partheniou1 and Graham Speight1

1OGT, Oxford, UK

 

Introduction

  • 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 BRCA1BRCA2TP53PTEN, and PIK3CA, as well as more moderate risk genes such as PALB2BRIP1RAD51C 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 genesTable 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 (ALKKITEGFRKRAS, and TP53) from the SureSeq myPanel NGS Custom Cancer Panel range using the Quantitative Multiplex Reference Standard – gDNA and formalin-compromised DNA, from Horizon.

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