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.
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.
With thanks to our sponsor, SOPHiA GENETICS
In this on-demand webinar, the speakers will cover:
• 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.
