Genetic Testing for Cancer of Inherited Disease Diagnostics
Less than 1/3 of patients receive targeted therapy as less than 1% of mutations in cancer genes are known.
The function of genes and their protein products are intensively studied from both a basic science and applied translational perspective. Of the greater than 250 known cancer ‘driver’ genes, less than 1% of the variants encoding single amino-acid substitutions have known functional or clinical impact. These variants are called Variant of Unknown Significance (VUS) is precisely that – unknown.