About the Talk
Presenter
Abdullah Kahraman: Head of Clinical Bioinformatics in Molecular Tumor Profiling, University Hospital Zurich
Abstract
Comprehensive genomic tumour profiling is the basis of precision medicine in the modern era of cancer diagnosis and treatment. The possibility to profile cancer genomes and identify driver mutations in individual tumours has changed the way oncologists diagnose cancer, decide on therapies and identify patients for clinical trials. At the University Hospital Zurich and in collaboration with Roche, Switzerland and Foundation Medicine Inc., Cambridge, USA, we have established the validated diagnostic FoundationOne® assay for solid tumours.
The FoundationOne® assay is designed to detect various genomic alterations in 315 cancer related genes including single nucleotide variants, indels and copy number alterations. In addition, fusions and rearrangement events in 28 cancer associated genes are assessed. Besides these alterations, the microsatellite status (MSI) of 114 intronic homopolymer repeat loci and the tumour mutational burden (TMB) is determined as biomarkers for immun-checkpoint inhibitors. For its application in clinical practice, the assay was designed to work with common FFPE blocks while guaranteeing a specificity of ≥ 99% and sensitivity of 90-99%. To reliably identify driver mutations in highly heterogeneous cancer samples, the assay includes targeted resequencing of exons with a median coverage of 500x.
The FoundationOne® has already established itself as an essential element at tumour board meetings, where it supports oncologists in the diagnosis and decision making process for succeeding treatment options. Here, I will introduce the audience to the assay, give an overview of the first results obtained at the University Hospital Zurich, will demonstrate its advantages and give statistics on its performance.
Date: October 5th, 2018 – 16:00 CET / 17:00 Istanbul
Language: English
