ArticleCancer discovery2012
High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing.
Article in Cancer discovery, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 314 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
314 citing papers in PubMed, 537 citations in OpenAlex.
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- PD-1 Blockade in Advanced Adrenocortical Carcinoma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020Trial
- Phase II Study of Avelumab in Patients With Mismatch Repair Deficient and Mismatch Repair Proficient Recurrent/Persistent Endometrial Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2019Trial
- Comprehensive Genomic Profiling of Metastatic Tumors in a Phase 2 Biomarker Study of Everolimus in Advanced Renal Cell Carcinoma.Clinical genitourinary cancer · 2018Trial
- Diagnostic accuracy of 2-hydroxyglutarate magnetic resonance spectroscopy in newly diagnosed brain mass and suspected recurrent gliomas.Neuro-oncology · 2018Trial
- Cabozantinib in Patients with Advanced Merkel Cell Carcinoma.The oncologist · 2018Trial
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- Dual MEK/AKT inhibition with trametinib and GSK2141795 does not yield clinical benefit in metastatic NRAS-mutant and wild-type melanoma.Pigment cell & melanoma research · 2018Trial
- Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.Nature communications · 2017Trial
- Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.Genome medicine · 2016Trial
- Everolimus Versus Sunitinib Prospective Evaluation in Metastatic Non-Clear Cell Renal Cell Carcinoma (ESPN): A Randomized Multicenter Phase 2 Trial.European urology · 2016Trial
- Article
- Precision Medicine Through Network Language: Integrating Clinical Insight and Data Expertise.Genes · 2026Review
- Molecular Genetics of Renal Cell Carcinoma: A Narrative Review Focused on Clinical Relevance.Current oncology (Toronto, Ont.) · 2025Review
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- Canonical amplifications and CDKN2A/B loss refine IDH1/2-mutant astrocytoma prognosis.Neuro-oncology · 2025Article
254 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
unlabelledKnowledge of "actionable" somatic genomic alterations present in each tumor (e.g., point mutations, small insertions/deletions, and copy-number alterations that direct therapeutic options) should facilitate individualized approaches to cancer treatment. However, clinical implementation of systematic genomic profiling has rarely been achieved beyond limited numbers of oncogene point mutations. To address this challenge, we utilized a targeted, massively parallel sequencing approach to detect tumor genomic alterations in formalin-fixed, paraffin-embedded (FFPE) tumor samples. Nearly 400-fold mean sequence coverage was achieved, and single-nucleotide sequence variants, small insertions/deletions, and chromosomal copynumber alterations were detected simultaneously with high accuracy compared with other methods in clinical use. Putatively actionable genomic alterations, including those that predict sensitivity or resistance to established and experimental therapies, were detected in each tumor sample tested. Thus, targeted deep sequencing of clinical tumor material may enable mutation-driven clinical trials and, ultimately, "personalized" cancer treatment. SIGNIFICANCE: Despite the rapid proliferation of targeted therapeutic agents, systematic methods to profile clinically relevant tumor genomic alterations remain underdeveloped. We describe a sequencingbased approach to identifying genomic alterations in FFPE tumor samples. These studies affirm the feasibility and clinical utility of targeted sequencing in the oncology arena and provide a foundation for genomics-based stratification of cancer patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.