We’re hosting 3 talks from distinguished speakers on Wednesday, May 2 from 14:00–15:00 in the Willem Burger Hall
PITX2 DNA-methylation, a novel validated marker in high-risk breast cancer
Speaker: Dr. med. Olaf G. Wilhelm, Therawis Pharma GmbH and Therawis Diagnostics GmbH, Munich, Germany
Date: May 2, 2018 Time: 14:05–14:20 Place: Willem Burger Hall
Evidence has accumulated that epigenetic PITX2 (paired-like homeodomain transcription factor 2) gene methylation might serve as a novel predictive biomarker in certain high-risk breast cancer patients. For this patient group, including lymph node-positive, estrogen receptor-positive and HER2-negative high-risk breast cancer patients, current international guidelines recommend anthracycline-based chemotherapy as the standard-of-care, yet not all patients equally benefit from this treatment. To further improve therapy decision-making and to support physicians in giving patient advice, predictive biomarkers are of high importance.
Identification of BRCA1/2 pathogenic variants in both solid tumor samples and liquid biopsies by GeneReader NGS*
Speaker: Dr. Sergio Marchini, lstituto di Ricerche Farmacologiche Mario Negri, Department of Oncology, Milan, Italy
Date: May 2, 2018 Time: 14:20–14:35 Place: Willem Burger Hall
Molecular tests for germline pathogenic variants in the tumor suppressor genes BRCA 1 and BRCA 2 allow identification of hereditary forms of breast (BC) and ovarian cancer (EOC), as well as assessment of risk for developing such cancers. Our laboratory has sought to establish a next-generation sequencing (NGS) test to sequence full-length coding regions of the BRCA 1/2 genes. The complexity in the mutations necessitates a tool that offers a robust and easy workflow, combined with accurate and reproducible results as well as up-to-date interpretation for variant findings. In our presentation, we describe the process to set up, quality control and accredit an NGS workflow for use in our clinical research.
Based on the GeneReader* platform, the Center for Biomedical Analysis and Clinical Genomics (CABGeC) in Milan, Italy has been recently recognized as a certified laboratory for the identification of germline pathogenic variants in the BRCA1/2 genes. We have successfully brought live an NGS test for BRCA 1/2 using the GeneReader NGS System*. We established sample and process control from extraction through variant annotation and interpretation. Our experience can be leveraged by other laboratories new to NGS or BRCA testing.
Standardized interpretation and actionable reporting* of challenging BRCA mutations
Speaker 1: Anika Joecker, Associate Director Global Product Management NGS, QIAGEN, Germany
Speaker 2: Dr. Beate Litzenburger, Senior Somatic Scientist-Global Technical and Content Operations, QIAGEN
Date: May 2, 2018 Time: 14:35–14:50 Place: Willem Burger Hall
In ovarian cancer, molecular testing for actionable somatic variants in genes such as BRCA 1/2 is already standard in most molecular testing laboratories. However, due to challenging regions within those genes, some of the critical genomic alterations are overseen and misinterpreted. In addition, routine cancer research testing laboratories need rapid and reliable interpretation of the identified genomic alterations and are thus challenged with producing standardized, reproducible interpretation and reporting of the most current information.
The GeneReader NGS System* provides a Sample to Insight solution, which fulfills these requirements of the laboratories performing cancer clinical research. QIAGEN Clinical Insight (QCI™) Interpret is an integrated part of the GeneReader NGS System* allowing clinical research teams to deliver evidenced-based, actionable insights. This talk will first show how the system is able to correctly detect, interpret and report challenging alterations in homopolymer regions, using the example of BRCA. Then, the methodology and benefits of automating guidelines (AMP/ASCO/CAP and ACMG/AMP) for vetting somatic cancer alterations for pathogenicity in the same workflow while providing full transparency to the underlying evidence will be discussed. Finally, we will provide a short outlook on upcoming releases and new panel solutions.