Abstract
Identifying potential germline pathogenic variants can inform eligibility for certain therapies, management of future cancer risk, and cascade familial variant testing. The OCTANE study is an ongoing Ontario-wide initiative to assess the clinical utility of next-generation sequencing (NGS) for patients with advanced solid tumours (NCT02906943). As the study performs tumour-only profiling rather than testing of paired tumour-normal samples, we sought to devise a variant filtration approach to identify potentially pathogenic germline variants in tumour tissue for confirmatory testing and clinical follow-up.
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