Clinically significant germline pathogenic variants are missed by tumor genomic sequencing
Leigh Anne Stout, Cynthia Hunter, Courtney Schroeder, Nawal Kassem, Bryan P. Schneider
Abstract
A germline pathogenic variant may be present even if the results of tumor genomic sequencing do not suggest one. There are key differences in the assay design and reporting of variants between germline and somatic laboratories. When appropriate, both tests should be completed to aid in therapy decisions and determining optimal screening and risk-reduction interventions.
Topics & Concepts
GermlineGermline mutationSomatic cellGeneticsBiologyDNA sequencingGenomic sequencingComputational biologyGenomeGeneMutationCancer Genomics and DiagnosticsGenetic factors in colorectal cancerGenomics and Rare Diseases