The use of a hybridisation-based NGS enrichment panel for the confident identification of a broad range of low frequency variants from as little as 50ng of challenging clinical research FFPE samples

Contributors

Graham Speight¹, Ephrem Chin¹, Jacqueline Chan¹, Robert Zeillinger², Nicole Concin³, David Cook¹

¹Oxford Gene Technology, Oxford, UK; ²Medical University of Vienna, Dept. of Obstetrics and Gynaecology, Vienna, Austria and ³Medical University, Dept. of Gynaecology and Obstetrics, Innsbruck, Austria

Introduction

One of the challenges in the treatment of cancer is the high level of genetic complexity and tumour heterogeneity. Detailed information about the genetic profile of each individual tumour can help guide treatment strategies¹. Epithelial ovarian cancer (EOC) is the most lethal gynaecological malignancy² , and the type II tumours accounting for approximately 75% of all EOCs, are nearly always detected in advanced stages. These highly aggressive tumours are characterised by their morphological and molecular homogeneity and often (>80% of cases) contain TP53 mutations. The GANNET53 (Ganetespib in metastatic, p53 mutant, platinum-resistant ovarian cancer) trial started in October 2015 and aims to improve the prognosis and quality of life in platinum-resistant EOC patients (www.gannet53.eu). This European multi-centre clinical trial is currently in stage II during which biomaterials have been collected and analysed using a SureSeq™ hybridisation-based enrichment panel for targeted next-generation sequencing (NGS), to determine the TP53 mutation status of the samples.