The acquisition of detailed genomic information in a variety of cancers has demonstrated that a core group of signaling pathways commonly acquire activating mutations. This has led to a paradigm shift in cancer therapy; from knowing the organ of origin and histology as the basis for therapy to a more nuanced approach to additionally specifically target activation mutations which may be common to a variety of cancers. For example activating mutations in BRAF are common in melanoma, lung cancer, thyroid cancer, colorectal cancer and hematologic malignancies. Knowledge of specific mutations may also guide therapeutic decision making to optimally utilize targeted therapies. For example, in non-small cell lung cancer (NSCLC) activating mutations in the epidermal growth factor receptor (EGFR) predict response to tyrosine kinase inhibitors gelfitinib and erlotinib. On the other hand, activating mutations in KRAS, BRAF and PI3 kinase portend resistance to monoclonal antibodies targeting the extracellular EGFR domain (e.g., cetuximab).

The mutations detected with this assay are all potentially clinically actionable, typically involving signal pathway activating mutations which have targeted therapies available (some may require enrollment in clinical trials). The SNaPshot™ methodology uses a single base extension step with a labeled ddNTP to detect mutations in 12 genes commonly mutated in cancer:

For a complete list of mutations.

Example graph of Cancer Somatic Mutation TP53 743G>A; R248Q

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For information regarding clinical trials linked to specific cancer mutations: www.clinicaltrials.gov.

Regarding clinical trials at Stanford University Medical Center see Clinical Trials at Stanford.