Katherine Dixon from The University of British Columbia in Canada spoke at the Nanopore Community Meeting 2022 about “Clinical and functional significance of germline variation in cancer susceptibility and disease.” Dixon spoke about the complexity of factors determining cancer. Between 15-20% of cancer show familial clustering, according to Dixon. In Canada, 300,000 are estimated to have hereditary susceptibility to cancer. The goal of their study was to assess the potential clinical utility of nanopore long-read genome sequencing for hereditary cancer families. In 2018 they began using sequencing to identify treatment options and were able to resolve a case with long-read sequencing. This case was an inversion deletion with some characteristic alterations, mentioned Dixon. Today they have sequenced over 120 individuals with 80% female and most hereditary breast and ovarian cancer. They also mentioned that long-read sequencing seems to be sensitive to genetic and epigenetic variation with 95% of known pathogenic variants detected by nanopore genome sequencing. Dixon mentioned that the two variants that were not detected were a mosaic variant and a sample with low coverage! Dixon described several cases they addressed with long-read sequencing. They also mentioned that in some cases the clinical significance was not resolved. In some cases there is uncertainty on whether the variant is linked to disease. Dixon is excited about how the program started with screening and was propelled by advances in technology. It was interesting to learn about the pedigrees and sequencing of patient samples (and families)!
