Beyond SNVs: Why CNVs deserve a closer look in hereditary cancer

Type: On-Demand Webinar
Location: Global
Areas of Interest: Clinical, Hereditary Cancers

Most hereditary cancer NGS workflows are built to catch SNVs and indels. But copy number variations (CNVs) can be just as clinically significant, and far easier to miss, particularly in genes like PALB2, where large deletions are more common than many realise.

What began as a straightforward hereditary cancer study led somewhere no one expected. Dr. Elena Tenedini (Associate Professor at University Hospital of Modena) and colleagues compared variants from nearly 3,000 patients against published cohorts. When they reached the CNV data, PALB2 emerged as a leading contributor of pathogenic CNVs, driven largely by a recurrent exon 11 deletion clustered in one region of Italy. Collaboration with the University of Florence pointed to a shared, relatively recent origin.

None of this would have surfaced without analysing CNVs and SNVs/indels together. In this on-demand webinar, hosted by Front Line Genomics, Dr. Tenedini shows how her laboratory built a single NGS workflow with the SOPHiA DDM™ Dx Hereditary Cancer Solution, and how integrated analysis uncovers patterns researchers didn't know to look for.

What you'll learn:

How the Modena lab integrates CNV detection with SNV/indel analysis in routine diagnostics
What breakpoint and haplotype findings suggest about a regional founder effect, and what it could mean for testing and genetic counselling
Where an enhanced exome solution fits within SOPHiA GENETICS' hereditary cancer portfolio for labs consolidating workflows

Stay for the Q&A

Dr. Tenedini answers audience questions on founder variants in the clinic, follow-up for families with the PALB2 variant, why CNVs are underreported, and the future of hereditary cancer testing, from long-read sequencing to newer reference genomes.

Speakers:

Dr. Elena Tenedini
Associate Professor
University Hospital of Modena

Sevena Yaghoubian, MBA
Senior Director, Genomics
SOPHiA GENETICS

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