Paper - Review

10.1038/nm.4333

DOI: 10.1038/nm.4333

Abstract

Tumor molecular profiling
→ a fundamental component ← of precision oncology
∴ Enabling the identification of genomic alterations
← in 1⃣ genes 2⃣ pathways → that can be targeted therapeutically

The existence of (recurrent targetable alterations)
← across distinct histologically defined tumor types
← coupled with an expanding portfolio of molecularly targeted therapies
→ demands 1⃣ flexible 2⃣ comprehensive approaches
→ to profile clinical relevant genes
→ across the full spectrum of cancers

Established → a 1⃣ large-scale 2⃣ prospective clinical sequencing initiative
← using a comprehensive assay ∴ MSK-IMPACT
→ through which we have compiled 1⃣ tumor 2⃣ matched normal sequence data
← from a unique cohort of more than 10,000 patients
← with 1⃣ advanced cancer 2⃣ available pathological & clinical annotations

❗: identified 1⃣ clinically relevant somatic mutations 2⃣ novel noncoding alterations 3⃣ mutational signatures
← that were shared by 1⃣ common 2⃣ rare tumor types

Patients were enrolled
← on genomically matched clinical trials ← at a rate of 11%

❗: All results are publicly accessible
→ to enable discovery of 1⃣ novel biomarkers 2⃣ deeper investigation