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Analysis Reviews Management of Cancer Patients With Presumed Germline Pathogenic Variant From Tumor Sequencing

A retrospective analysis of hundreds of cancer patients who underwent tumor-only comprehensive genomic profiling (CGP) that uncovered possible secondary findings (SFs) that were then confirmed is presented in the Journal of Human Genetics this week. As tumor sequencing becomes increasingly used to help personalize cancer treatment, germline pathogenic variants (GPVs) unrelated to the disease are sometimes identified and disclosed to the patient. In the study, a team led by scientists from Tohoku University Hospital reviewed 710 patients with advanced solid tumors being treated at the medical facility, starting from when their tumors were profiled through the confirmation of SFs, along with the decisions of the hospital's molecular tumor board (MTB). The researchers find that the MTB recommended confirmatory testing of SFs for 64 patients. Informed consent was obtained by attending physicians for 53 of these patients, 30 of whom then underwent testing and 17 of whom tested positive for a germline variant. Other findings include no difference in a tumor's variant allele frequency between confirmed positive and negative cases for variants determined as presumed GPV by the MTB. "The practical results at this single facility will serve as a guide for the management of the selection and distribution of SF in the genome analysis," the study's authors write.