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Adoption of Broad NGS Profiling for HRR Deficiency: Looking beyond BRCA, SNP’s, and Indels

Thursday, Oct 22, 2020

SOPHiA GENETICS brings you a webinar that will share the Lorraine Cancer Institute’s experience in implementing a novel targeted solution to accurately assess homologous recombination repair (HRR) deficiency by analyzing a series of genes, beyond BRCA, and calling multiple types of variants, including copy number variants (CNVs). In the past, HRR deficiency has been commonly associated with BRCA mutations, but recent evidence shows that HRR deficiency detection should not exclusively focus on BRCA, single nucleotide variants (SNPs), and insertions/deletions (indels).

The Lorraine Cancer Center is currently participating in a guideline-defining multicenter study on ovarian cancer, investigating the correlations between a larger range of genomic alterations linked to HRR, clinical evolution, and therapeutic impact.

Dr. Alexandre Harlé, from the institute’s Tumor Biology Unit, will describe the adoption of a next-generation sequencing (NGS) solution for broad HRR-deficiency-analysis, additionally enabling CNV detection. He will discuss:

  • Why the institute chose a broad and future-proof HRR-deficiency-analysis approach
  • How a single NGS workflow can assess a large range of HRR-related variants
  • The methods used to confirm the analytical performance of the solution
  • The challenges lying ahead and how can they be solved