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About this event
Most hereditary cancer NGS workflows are built to catch single nucleotide variants and indels. But copy number variations (CNVs) can be just as clinically significant, and far easier to miss.
For labs relying on panels that don't systematically screen for CNVs, this can mean overlooking pathogenic findings, particularly in genes like PALB2 where large deletions can be more common than many realise.
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This webinar brings together a genuinely fascinating real-world case study and a look at the solutions available to address this gap. Dr. Elena Tenedini (University Hospital of Modena) shares how her laboratory built a single, comprehensive NGS workflow using the SOPHiA DDM™ Dx Hereditary Cancer Solution to detect SNVs, Indels, and CNVs together across a large hereditary cancer cohort.
The group conducted a research study of the cohort to find that PALB2 was a leading contributor of pathogenic CNVs, driven largely by a recurrent exon 11 deletion traced to a shared genetic ancestry in a specific region of Italy.
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• How the Modena lab's diagnostic routine integrates CNV detection alongside SNV/indel analysis, with a closer look at the underlying methodology.
• Distribution of variant types across the cohort compared to previously published data.
• Breakpoint and haplotype findings pointing to a regional founder effect and what that could mean for testing and genetic counselling in the area.
• Open questions arising from the case study, and future planned studies.
• An overview of SOPHiA GENETICS' hereditary cancer portfolio of targeted assays, and where an enhanced exome solution fits for labs looking to consolidate multiple workflows.
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Elena Tenedini, PhD, Associate Professor, Clinical Genomics Laboratory, University Hospital of Modena, Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Italy
Bio: Elena Tenedini is a biologist with a PhD in Experimental Hematology and a postgraduate specialization in Medical Genetics. She is Associate Professor of Clinical Biochemistry and Clinical Molecular Biology at the University of Modena and Reggio Emilia, and Head of the Oncology and Rare Disease Genomics Sector at the University Hospital of Modena, Italy.
Her research primarily focuses on hereditary cancer predisposition, with particular interest in genes involved in homologous recombination and in the interpretation of germline and somatic variants affecting these genes.
She is Principal Investigator of a research project investigating constitutional mosaicism in hereditary cancer genes and has recently focused on the clinical interpretation of low-VAF variants and on the characterization of a recurrent PALB2 founder deletion identified in hereditary cancer patients from Northern Italy.
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Sevana Yaghoubian, Senior Director of Genomics Product Management, SOPHiA GENETICS
Bio: Sevana Yaghoubian has extensive experience in the field of genomics and molecular diagnostics. She is currently a Senior Director of Genomics Product Management at SOPHiA GENETICS, where she leads a team and is responsible for various aspects of product management, marketing, and business development.
During her time at SOPHiA GENETICS, she has achieved significant growth and successfully launched several new products in the areas of oncology, rare diseases, and precision medicine. Sevana Yaghoubian holds an MSc in Molecular Biology from the University of Toronto.
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The SOPHiA DDM™ Dx Hereditary Cancer Solution is available as a CE-IVD product for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland.
Front Line Genomics is a genomics-focused social business, with a mission to deliver the benefits of genomics to patients faster. We organize the Festival of Genomics & Biodata, webinars, reports and smaller boardroom-style strategy meetings.
