Cancer-associated gene-variant testing reports classify polymorphisms as “benign”, “likely benign”, “likely pathogenic”, “pathogenic”, or as variants of uncertain significance (VUS). As more patients are tested, test results accumulate and scientific understanding of the role of gene variants in cancer improves, gene variants may need to be reclassified — upgraded from likely benign, benign, or VUS to pathogenic or likely pathogenic; or downgraded from pathogenic, likely pathogenic, or VUS to benign or likely benign.
Reclassification of Variants of Uncertain Significance: A Q&A With Theodora Ross MD, PhD – 10/23/18
