Cited by 2,157Cancer Genomics and DiagnosticsGenomics and Rare DiseasesBRCA gene mutations in cancer

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Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

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Frampton, Garrett M, Fichtenholtz, Alex, Otto, Geoff A, Wang, Kai, Downing, Sean R, He, Jie, Schnall-Levin, Michael, White, Jared, Sanford, Eric M, An, Peter, Sun, James, Juhn, Frank, Brennan, Kristina, Iwanik, Kiel, Maillet, Ashley, Buell, Jamie, White, Emily, Zhao, Mandy, Balasubramanian, Sohail, Terzic, Selmira, Richards, Tina, Banning, Vera, Garcia, Lazaro, Mahoney, Kristen, Zwirko, Zac, Donahue, Amy, Beltran, Himisha, Mosquera, Juan Miguel, Rubin, Mark A, Dogan, Snjezana, Hedvat, Cyrus V, Berger, Michael F, Pusztai, Lajos, Lechner, Matthias, Boshoff, Chris, Jarosz, Mirna, Vietz, Christine, Parker, Alex, Miller, Vincent A, Ross, Jeffrey S, Curran, John, Cronin, Maureen T, Stephens, Philip J, Lipson, Doron, Yelensky, Roman·2013·Nature Biotechnology

DOI 10.1038/nbt.2696PMC PMC5710001

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Abstract

As more clinically relevant cancer genes are identified, comprehensive diagnostic approaches are needed to match patients to therapies, raising the challenge of optimization and analytical validation of assays that interrogate millions of bases of cancer genomes altered by multiple mechanisms. Here we describe a test based on massively parallel DNA sequencing to characterize base substitutions, short insertions and deletions (indels), copy number alterations and selected fusions across 287 cancer-related genes from routine formalin-fixed and paraffin-embedded (FFPE) clinical specimens. We implemented a practical validation strategy with reference samples of pooled cell lines that model key determinants of accuracy, including mutant allele frequency, indel length and amplitude of copy change. Test sensitivity achieved was 95-99% across alteration types, with high specificity (positive predictive value >99%). We confirmed accuracy using 249 FFPE cancer specimens characterized by established assays. Application of the test to 2,221 clinical cases revealed clinically actionable alterations in 76% of tumors, three times the number of actionable alterations detected by current diagnostic tests.

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The Sequence Alignment/Map format and SAMtools
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Molecular Tests and Target Therapies in Oncology: Recommendations from the Italian Workshop
Pinto, C., Biffoni, M., Popoli, P., Marchetti, A., Marchetti, P., Martini, N., & Normanno, N. (2021) · Future Oncology · doi:10.2217/fon-2021-0286 · Cited by 27
Genomic Profiling of Combined Hepatocellular Cholangiocarcinoma Reveals Genomics Similar to Either Hepatocellular Carcinoma or Cholangiocarcinoma
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Epidermal Growth Factor Receptor Inhibition in Epidermal Growth Factor Receptor–Amplified Gastroesophageal Cancer: Retrospective Global Experience
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“January 2011 and December 2020, and underwent tissue comprehensive genomic profiling (FoundationOne, FoundationOne CDx or FoundationOneLiquid CDx).(26,27) Institutional Review Board approval with waiver of informed consent was obtained before study conduct.”
Method
High-throughput method for the hybridisation-based targeted enrichment of long genomic fragments for PacBio third-generation sequencing
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“Deep, even, and ideally complete target coverage is also essential for clinical and scientific sequencing applications (24,25).”
Background
The Multi-Dimensional Biomarker Landscape in Cancer Immunotherapy
Lee, J. Y., Kannan, B., Lim, B. Y., Li, Z., Lim, A. H., Loh, J. W., Ko, T. K., Ng, C. C. Y., & Chan, J. Y. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23147839 · Cited by 29
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Background
Targeting the FGF/FGFR axis and its co-alteration allies
Uehara, Y., Ikeda, S., Kim, K. H., Lim, H. J., Adashek, J. J., Persha, H. E., Okamura, R., Lee, S., Sicklick, J. K., Kato, S., et al. (2022) · ESMO Open · doi:10.1016/j.esmoop.2022.100647 · Cited by 27
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Guidance for clinicians and patients with non-small cell lung cancer in the time of precision medicine
Villaruz, L. C., Socinski, M. A., & Weiss, J. M. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1124167 · Cited by 27
“One study detected actionable genetic alterations in 76% of clinical tumor specimens using HC-NGS, which was three-times the amount detected by traditional tests (39).”
Association of Age With Treatment-Related Adverse Events and Survival in Patients With Metastatic Colorectal Cancer
Meng, L., Thapa, R., Delgado, M., Gómez, M. F. L., Ji, R., Knepper, T. C., Hubbard, J. M., Wang, X., Permuth, J. B., Kim, R. D., et al. (2023) · JAMA Network Open · doi:10.1001/jamanetworkopen.2023.20035 · Cited by 25
Next-generation sequencing in NSCLC and melanoma patients: a cost and budget impact analysis
van Amerongen, R. A., Retèl, V. P., Coupé, V. M. H., Nederlof, P. M., Vogel, M. J., & van Harten, W. H. (2016) · ecancermedicalscience · doi:10.3332/ecancer.2016.684 · Cited by 27
Personalized Treatment for a Patient With aBRAFV600E Mutation Using Dabrafenib and a Tumor Treatment Fields Device in a High-Grade Glioma Arising From Ganglioglioma
Meletath, S. K., Pavlick, D. C., Brennan, T. J., Hamilton, R. H., Chmielecki, J., Elvin, J. A., Palma, N. A., Ross, J. S., Miller, V. A., Stephens, P. J., et al. (2016) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2016.0145 · Cited by 27
General paucity of genomic alteration and low tumor mutation burden in refractory and metastatic hepatoblastoma: comprehensive genomic profiling study
Lee, H., Jabbour, T. E., Ainechi, S., Gay, L. M., Elvin, J. A., Vergilio, J., Suh, J. H., Ramkissoon, S. H., Ali, S. M., Schrock, A. B., et al. (2017) · Human Pathology · doi:10.1016/j.humpath.2017.10.007 · Cited by 27
Significant Clinical Response to a MEK Inhibitor Therapy in a Patient With Metastatic Melanoma Harboring an RAF1 Fusion
Kim, K. B., Semrad, T. J., Schrock, A. B., Ali, S. M., Ross, J. S., Singer, M. I., & Kashani–Sabet, M. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00138 · Cited by 27
Inference of Germline Mutational Status and Evaluation of Loss of Heterozygosity in High-Depth, Tumor-Only Sequencing Data
Khiabanian, H., Hirshfield, K. M., Goldfinger, M., Bird, S., Stein, M. N., Aisner, J., Toppmeyer, D., Wong, S. T.-L., Chan, N., Dhar, K., et al. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00148 · Cited by 28
ATM/RB1 mutations predict shorter overall survival in urothelial cancer
Yin, M., Grivas, P. D., Emamekhoo, H., Mendiratta, P., Ali, S. M., Hsu, J., Vasekar, M. K., Drabick, J. J., Pal, S. K., & Joshi, M. (2018) · Oncotarget · doi:10.18632/oncotarget.24738 · Cited by 28
“Base substitutions, short insertions, deletions, copy number changes, gene fusions and rearrangements were assessed in a manner akin to previous reports [19].”
Result
Phase I/ II study of dasatinib and exploratory genomic analysis in relapsed or refractory non‐Hodgkin lymphoma
Umakanthan, J. M., Iqbal, J., Batlevi, C. L., Bouska, A. C., Smith, L. M., Shostrom, V., Nutsch, H., William, B. M., Bociek, R. G., Lunning, M. A., et al. (2018) · British Journal of Haematology · doi:10.1111/bjh.15702 · Cited by 27
Travel Time and Distance and Participation in Precision Oncology Trials at the National Cancer Center Hospital
Uehara, Y., Koyama, T., Katsuya, Y., Sato, J., Sudo, K., Kondo, S., Yoshida, T., Shoji, H., Shimoi, T., Yonemori, K., et al. (2023) · JAMA Network Open · doi:10.1001/jamanetworkopen.2023.33188 · Cited by 26
Combination Treatment Strategies to Overcome PARP Inhibitor Resistance
Soung, Y. H., & Chung, J. (2023) · Biomolecules · doi:10.3390/biom13101480 · Cited by 27
“Currently, the next-generation sequencing (NGS)-based myChoice CDx and FoundationOne CDx assays are to validate the HRD status of cancers [12].”
Method
KEAP1 and STK11/LKB1 alterations enhance vulnerability to ATR inhibition in KRAS mutant non-small cell lung cancer
Galán‐Cobo, A., Vokes, N. I., Qian, Y., Molkentine, D. P., Ramkumar, K., Paula, A. G., Pisegna, M. A., McGrail, D. J., Poteete, A., Cho, S.-N., et al. (2025) · Cancer Cell · doi:10.1016/j.ccell.2025.06.011 · Cited by 27
Bioinformatic approaches to augment study of epithelial-to-mesenchymal transition in lung cancer
Beck, T. N., Chikwem, A. J., Solanki-Patel, N., & Golemis, E. A. (2014) · Physiological Genomics · doi:10.1152/physiolgenomics.00062.2014 · Cited by 26
Comprehensive genomic profiling (CGP) of ovarian clear cell carcinomas (OCCC) identifies clinically relevant genomic alterations (CRGA) and targeted therapy options
Elvin, J. A., Chura, J. C., Gay, L. M., & Markman, M. M. (2017) · Gynecologic Oncology Reports · doi:10.1016/j.gore.2017.02.007 · Cited by 26
CYLD mutation characterizes a subset of HPV-positive head and neck squamous cell carcinomas with distinctive genomics and frequent cylindroma-like histologic features
Williams, E. A., Montesion, M., Alexander, B. M., Ramkissoon, S. H., Elvin, J. A., Ross, J. S., Williams, K. J., Glomski, K., Bledsoe, J. R., Tse, J. Y., et al. (2020) · Modern Pathology · doi:10.1038/s41379-020-00672-y · Cited by 26
“Adaptor ligation hybrid capture, utilizing the Foundation One T7 baitset [19], was performed on the specimens.”
Method
Recurrent urothelial carcinoma-like FGFR3 genomic alterations in malignant Brenner tumors of the ovary
Lin, D. I., Killian, J. K., Venstrom, J. M., Ramkissoon, S. H., Ross, J. S., & Elvin, J. A. (2020) · Modern Pathology · doi:10.1038/s41379-020-00699-1 · Cited by 27
Early-onset metastatic and clinically advanced prostate cancer is a distinct clinical and molecular entity characterized by increased TMPRSS2–ERG fusions
Chalmers, Z. R., Burns, M. C., Ebot, E. M., Frampton, G. M., Ross, J. S., Hussain, M., & Abdulkadir, S. A. (2021) · Prostate Cancer and Prostatic Diseases · doi:10.1038/s41391-020-00314-z · Cited by 26
Guideline-Adherent Clinical Validation of a Comprehensive 170-Gene DNA/RNA Panel for Determination of Small Variants, Copy Number Variations, Splice Variants, and Fusions on a Next-Generation Sequencing Platform in the CLIA Setting
Boyle, T. A., Mondal, A. K., Saeed‐Vafa, D., Ananth, S., Ahluwalia, P. K., Kothapalli, R., Chaubey, A., Roberts, E. L., Qin, D., Magliocco, A. M., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.503830 · Cited by 26
Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden
Ak, M., Kahraman, A., Arnold, F. M., Turko, P., Levesque, M. P., Zoche, M., Ramelyte, E., & Dummer, R. (2021) · Genes · doi:10.3390/genes12070974 · Cited by 26
“Furthermore, we intend to improve the understanding of pathogenesis and seek to identify the molecular profile of AFX and PDS through next-generation sequencing (NGS) with the FoundationOne-CDxTM (F1CDx) platform [19].”
Method
Prevalence of predictive biomarkers in a large cohort of molecularly defined adult-type ovarian granulosa cell tumors
Hillman, R. T., Lin, D. I., Lawson, B. C., & Gershenson, D. M. (2021) · Gynecologic Oncology · doi:10.1016/j.ygyno.2021.06.024 · Cited by 27
High resolution copy number inference in cancer using short-molecule nanopore sequencing
Baslan, T., Kovaka, S., Sedlazeck, F. J., Zhang, Y., Wappel, R. L., Tian, S., Lowe, S. W., Goodwin, S., & Schatz, M. C. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab812 · Cited by 29
“These efforts have culminated in the successful implementation of shortread sequencing in the clinic (14,15).”
Background
Response to Rucaparib in BRCA-Mutant Metastatic Castration-Resistant Prostate Cancer Identified by Genomic Testing in the TRITON2 Study
Loehr, A., Patnaik, A., Campbell, D. C., Shapiro, J. D., Bryce, A. H., McDermott, R., Sautois, B. R., Vogelzang, N. J., Bambury, R. M., Voog, É., et al. (2021) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-21-2199 · Cited by 26
“Central assays The central tissue assay was the FoundationOne laboratory developed test (F1 LDT) for NGS of 395 cancer-related genes (including BRCA) from formalin-fixed paraffin-embedded tissue (33).”
Method
Evaluation of Targeted Next-Generation Sequencing for the Management of Patients Diagnosed with a Cancer of Unknown Primary
Fusco, M. J., Knepper, T. C., Balliu, J., Cueto, A. D., Laborde, J., Hooda, S. M., Brohl, A. S., Bui, M. M., & Hicks, J. K. (2022) · The Oncologist · doi:10.1093/oncolo/oyab014 · Cited by 26
Targeting ALK in Neuroendocrine Tumors of the Lung
Akhoundova, D., Haberecker, M., Fritsch, R., Höller, S., Kießling, M. K., Rechsteiner, M., Rüschoff, J. H., & Fontecedro, A. C. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.911294 · Cited by 26
“The methods of F1CDx have been previously described (27).”
Method
Deriving tumor purity from cancer next generation sequencing data: applications for quantitative ERBB2 (HER2) copy number analysis and germline inference of BRCA1 and BRCA2 mutations
Siegmund, S., Manning, D. K., Davineni, P. K., & Dong, F. (2022) · Modern Pathology · doi:10.1038/s41379-022-01083-x · Cited by 26
Tumor Mutational Burden as a Predictor of First-Line Immune Checkpoint Inhibitor Versus Carboplatin Benefit in Cisplatin-Unfit Patients With Urothelial Carcinoma
Graf, R. P., Fisher, V. A., Huang, R. S. P., Hamdani, O., Gjoerup, O. V., Stanke, J. J., Creeden, J., Levy, M. A., Oxnard, G. R., & Gupta, S. (2022) · JCO Precision Oncology · doi:10.1200/po.22.00121 · Cited by 27
Comparison of PIK3CA Mutation Prevalence in Breast Cancer Across Predicted Ancestry Populations
Chen, J. W., Murugesan, K., Newberg, J. Y., Sokol, E. S., Savage, H. M., Stout, T. J., Maund, S. L., & Hutchinson, K. E. (2022) · JCO Precision Oncology · doi:10.1200/po.22.00341 · Cited by 26
“CGP was performed on hybrid-capture, adapter ligation–based libraries, to identify genomic alterations for ≥ 324 genes, as previously described.(22,23) Sites of care included academic and community settings.”
Method
A Novel HRD Signature Is Predictive of FOLFIRINOX Benefit in Metastatic Pancreatic Cancer
Chen, K., Madison, R. W., Moore, J. A., Jin, D. X., Fleischmann, Z., Newberg, J. Y., Schrock, A. B., Bhardwaj, N., Lofgren, K. T., He, J., et al. (2023) · The Oncologist · doi:10.1093/oncolo/oyad178 · Cited by 26
Integrative omics analyses broaden treatment targets in human cancer
Sengupta, S., Sun, S. Q., Huang, K., Oh, C., Bailey, M. H., Varghese, R., Wyczalkowski, M. A., Ning, J., Tripathi, P., McMichael, J. F., et al. (2018) · Genome Medicine · doi:10.1186/s13073-018-0564-z · Cited by 28
“practice [20, 21], these efforts primarily use gene/drug interactions rather than mutation/drug interactions to infer druggability [12, 15, 17, 22].”
BackgroundResult
A robust targeted sequencing approach for low input and variable quality DNA from clinical samples
So, A. P., Vilborg, A., Bouhlal, Y., Koehler, R. T., Grimes, S. M., Pouliot, Y., Mendoza, D., Ziegle, J. S., Stein, J. B., Goodsaid, F. M., et al. (2018) · npj Genomic Medicine · doi:10.1038/s41525-017-0041-4 · Cited by 26
“Clinical applications include (1) identifying germline variants, such as single nucleotide polymorphisms (SNPs) and structural variants (SV) related to hereditary disorders, and (2) identifying somatic mutations and other genetic aberrations in cancer that may have implications for treatment and prognosis.(2) Cancer s…”
Background
Loss of the PTCH1 tumor suppressor defines a new subset of plexiform fibromyxoma
Banerjee, S., Corless, C. L., Miettinen, M., Noh, S., Ustoy, R., Davis, J. L., Tang, C.-M., Yebra, M., Burgoyne, A. M., & Sicklick, J. K. (2019) · Journal of Translational Medicine · doi:10.1186/s12967-019-1995-z · Cited by 26
The Pan-Cancer Landscape of Coamplification of the Tyrosine Kinases KIT, KDR, and PDGFRA
Dişel, U., Madison, R. W., Abhishek, K., Chung, J., Trabucco, S. E., Matos, A. O., Frampton, G. M., Albacker, L. A., Reddy, V. P., Karadurmuş, N., et al. (2019) · The Oncologist · doi:10.1634/theoncologist.2018-0528 · Cited by 27
“The discrepancy may be due to the lower depth of coverage (100× or less) of the whole exome and whole genome sequencing platform, which makes detection of amplifications difficult [10].”
BackgroundMethodInfluential
Systematic literature review and meta-analysis of HER2 amplification, overexpression, and positivity in colorectal cancer
Singh, H., Kang, A., Bloudek, L. M., Hsu, L., Palanca-Wessels, M. C., Stecher, M., Siadak, M. F., & Ng, K. (2023) · JNCI Cancer Spectrum · doi:10.1093/jncics/pkad082 · Cited by 27
“Recently, tissue-based next-generation sequencing has been increasingly adopted in clinical practice and can also identify HER2 amplifications (27-29).”
Background
Genomic landscape of malignant phyllodes tumors reveals multiple targetable opportunities
Rosenberger, L. H., Riedel, R. F., Diego, E. J. B., Nash, A. L., Grilley‐Olson, J. E., Danziger, N. A., Sokol, E. S., Ross, J. S., & Sammons, S. L. (2024) · The Oncologist · doi:10.1093/oncolo/oyae218 · Cited by 25
The Case for Laboratory Developed Procedures
Kaul, K. L., Sabatini, L. M., Tsongalis, G. J., Caliendo, A. M., Olsen, R. J., Ashwood, E. R., Bale, S. J., Benirschke, R. C., Carlow, D. C., Funke, B., et al. (2017) · Academic Pathology · doi:10.1177/2374289517708309 · Cited by 27
“73, [85] [86] [87] Most NGS testing for therapeutic selection in cancer consists of panels of genes that range from 10 to 400 or more genes.”
Background
Effect of a Collaboration Between a Health Plan, Oncology Practice, and Comprehensive Genomic Profiling Company from the Payer Perspective
Reitsma, M., Fox, J., Borre, P. V., Cavanaugh, M., Chudnovsky, Y., Erlich, R., Gribbin, T. E., & Anhorn, R. (2019) · Journal of Managed Care & Specialty Pharmacy · doi:10.18553/jmcp.2019.18309 · Cited by 25
Next Generation Sequencing of Advanced Non–Small Cell Lung Cancer: Utilization Based on Race and Impact on Survival
Alahmadi, A. A., Ardeshir‐Larijani, F., Fu, P., Cao, S., Lipka, M. B., Dowlati, A., & Bruno, D. S. (2020) · Clinical Lung Cancer · doi:10.1016/j.cllc.2020.08.004 · Cited by 26
The utility of TP53 and PIK3CA mutations as prognostic biomarkers in salivary adenoid cystic carcinoma
Adderley, H., Rack, S., Hapuarachi, B. S., Feeney, L., Morgan, D. J., Hussell, T., Wallace, A. J., Betts, G. N. J., Hodgson, C., Harrington, K. J., et al. (2020) · Oral Oncology · doi:10.1016/j.oraloncology.2020.105095 · Cited by 25
Milestones of Precision Medicine: An Innovative, Multidisciplinary Overview
García‐Foncillas, J., Argente, J., Bujanda, L., Cardona, V., Casanova, B., Montés, A. F., Horcajadas, J. A., Íñiguez, A., Ortíz, A., Pablos, J. L., et al. (2021) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-021-00544-4 · Cited by 27
Genomic Landscape of Advanced Solid Tumors in Circulating Tumor DNA and Correlation With Tissue Sequencing: A Single Institution's Experience
Gerratana, L., Movarek, M., Wehbe, F., Katam, N., Mahalingam, D., Donahue, J., Shah, A. N., Chae, Y. K., Mulcahy, M. F., Tsarwhas, D., et al. (2022) · JCO Precision Oncology · doi:10.1200/po.21.00289 · Cited by 25
Quantifying the Value of Multigene Testing in Resected Early Stage Lung Adenocarcinoma
Muthusamy, B., Raskina, K., Lofgren, K. T., Li, G., Tolba, K. A., Schwed, K., Castellanos, E. H., Huang, R. S. P., Oxnard, G. R., Schrock, A. B., et al. (2022) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2022.11.027 · Cited by 25
“DNA was extracted from 40 microns of FFPE sections, and CGP was performed on hybridization-captured, adaptor ligation based libraries to a mean coverage depth of >550X for 315 or 324 cancer-related genes plus selected introns from genes frequently rearranged in cancer, as previously described.(16) Tumor mutational bur…”
Method
Pan-Cancer Analysis of Copy-Number Features Identifies Recurrent Signatures and a Homologous Recombination Deficiency Biomarker to Predict Poly (ADP-Ribose) Polymerase Inhibitor Response
Moore, J. A., Chen, K., Madison, R. W., Newberg, J. Y., Fleischmann, Z., Wang, S., Sharaf, R., Murugesan, K., Fendler, B. J., Hughes, J. D., et al. (2023) · JCO Precision Oncology · doi:10.1200/po.23.00093 · Cited by 31
Activating Point Mutations in the MET Kinase Domain Represent a Unique Molecular Subset of Lung Cancer and Other Malignancies Targetable with MET Inhibitors
Pecci, F., Nakazawa, S., Ricciuti, B., Harada, G., Lee, J., Alessi, J. V., Barrichello, A. P. D. C., Vaz, V. R., Lamberti, G., Federico, A. D., et al. (2024) · Cancer Discovery · doi:10.1158/2159-8290.cd-23-1217 · Cited by 26
FGFR 1 N546K and H3F3A K27M mutations in a diffuse leptomeningeal tumour with glial and neuronal markers
Dyson, K. A., Rivera-Zengotita, M. L., Kresak, J. L., Weaver, K., Stover, B. D., Fort, J. A., Rahman, M., Pincus, D. W., & Sayour, E. J. (2016) · Histopathology · doi:10.1111/his.12983 · Cited by 25
“Briefly, formalin-fixed paraffin-embedded tissue was submitted, and a panel of 315 cancer-realated genes and introns from 28 selected genes (frequently altered in cancer) were sequenced to identify four types of mutation: substitutions, insertions/deletions, copy number variations, and rearrangements; a previous versi…”
Method
435 Candidate biomarkers of PARP inhibitor sensitivity in ovarian cancer beyond the BRCA genes
Hodgson, D., Dougherty, B. A., Lai, Z., Grinsted, L. M., Spencer, S., O’Connor, M. J., Ho, T. W., Robertson, J. D., Lanchbury, J. S. S., Timms, K., et al. (2015) · European Journal of Cancer · doi:10.1016/s0959-8049(16)30269-6 · Cited by 25
Comprehensive genomic sequencing and the molecular profiles of clinically advanced breast cancer
Ross, J. S., & Gay, L. M. (2016) · Pathology · doi:10.1016/j.pathol.2016.11.005 · Cited by 25
Comprehensive molecular profiling of extrahepatic cholangiocarcinoma in Chinese population and potential targets for clinical practice
Liang, X., Guo, C., Zhang, K., Jiang, H., Pang, F., Dou, Y., Liu, X., Lin, H., Dong, X., Zhao, S., et al. (2019) · HepatoBiliary Surgery and Nutrition · doi:10.21037/hbsn.2019.08.05 · Cited by 25
“Analysis of genomic DNA from tumor tissue and matched blood control were performed according to previous reports (20-22).”
Method
Single-nucleotide variants, tumour mutational burden and microsatellite instability in patients with metastatic colorectal cancer: Next-generation sequencing results of the FIRE-3 trial
Stahler, A., Stintzing, S., von Einem, J. C., Westphalen, C. B., Heinrich, K., Krämer, N., Michl, M., Modest, D. P., von Weikersthal, L. F., Decker, T. W., et al. (2020) · European Journal of Cancer · doi:10.1016/j.ejca.2020.07.003 · Cited by 25
Efficacy of pembrolizumab in microsatellite-stable, tumor mutational burden-high metastatic colorectal cancer: genomic signatures and clinical outcomes
Yamaguchi, T., Tsuchihashi, K., Ueno, S., Uehara, K., Taguchi, R., Ito, M., Isobe, T., Imajima, T., Kitazono, T., Tanoue, K., et al. (2025) · ESMO Open · doi:10.1016/j.esmoop.2024.104108 · Cited by 25
Circulating Tumor DNA detection in cancer: a comprehensive overview of current detection methods and prospects
de Abreu, A. R., Wyninckx, A., Vandamme, T., de Beeck, K. O., Camp, G. V., Peeters, M., Laurent‐Puig, P., Taı̈eb, J., Taly, V., & Benhaïm, L. (2025) · The Oncologist · doi:10.1093/oncolo/oyaf204 · Cited by 29
Experience with targeted next generation sequencing for the care of lung cancer: Insights into promises and limitations of genomic oncology in day-to-day practice
Rangachari, D., VanderLaan, P. A., Le, X., Folch, E. E., Kent, M. S., Gangadharan, S. P., Majid, A., Haspel, R. L., Joseph, L. J., Huberman, M. S., et al. (2015) · Cancer Treatment Communications · doi:10.1016/j.ctrc.2015.10.004 · Cited by 25
“The third NGS assay (FoundationOne, Foundation Medicine; Cambridge, MA) interrogates 315 genes as well as introns of 28 genes involved in rearrangements using massively parallel DNA sequencing to characterize base substitutions, short indels, copy number alterations, and selected fusions (14); this assay was used in 2…”
BackgroundMethod
Performance validation of an amplicon-based targeted next-generation sequencing assay and mutation profiling of 648 Chinese colorectal cancer patients
Wang, Y., Liu, H., Hou, Y., Zhou, X., Liang, L., Zhang, Z., Shi, H., Xu, S., Hu, P., Zheng, Z., et al. (2018) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-018-2359-4 · Cited by 24
ROS1-GOPC/FIG: a novel gene fusion in hepatic angiosarcoma
Marks, E. I., Pamarthy, S., Dizon, D. S., Birnbaum, A., Yakirevich, E., Safran, H. P., & Carneiro, B. A. (2019) · Oncotarget · doi:10.18632/oncotarget.26521 · Cited by 25
“CGP of the liver biopsy specimen was performed in a Clinical Laboratory Improvement Amendments (CLIA)-certified pathology laboratory (Foundation Medicine, Cambridge, MA), as previously described [11, 12].”
Method
Optimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas
Corso, S., Pietrantonio, F., Apicella, M., Migliore, C., Conticelli, D., Petrelli, A., D’Errico, L., Durando, S., Moya‐Rull, D., Bellomo, S. E., et al. (2021) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-20-0121 · Cited by 24
“Sequencing of captured libraries was performed to a mean exon coverage depth of >500 , and resultant sequences were analyzed for genomic alterations, including mutations (base substitutions, insertions, and deletions), copy-number alterations (focal amplifications and homozygous deletions), and select gene fusions or…”
Background
Fast progression in non–small cell lung cancer: results from the randomized phase III OAK study evaluating second-line atezolizumab versus docetaxel
Gandara, D. R., Reck, M., Moro‐Sibilot, D., Mazières, J., Gadgeel, S. M., Morris, S., Cardona, A. F., Mendus, D., Ballinger, M. D., Rittmeyer, A., et al. (2021) · Journal for ImmunoTherapy of Cancer · doi:10.1136/jitc-2020-001882 · Cited by 24
Pan-cancer landscape of CD274 (PD-L1) copy number changes in 244 584 patient samples and the correlation with PD-L1 protein expression
Huang, R. S. P., Murugesan, K., Montesion, M., Pavlick, D. C., Mata, D. A., Hiemenz, M., Decker, B. J., Frampton, G. M., Albacker, L. A., & Ross, J. S. (2021) · Journal for ImmunoTherapy of Cancer · doi:10.1136/jitc-2021-002680 · Cited by 24
“10 More recently, in the SAFIR02-IMMUNO Randomized Phase II Trial, exploratory analysis has shown that CD274 amplification (defined as CN ≥ 5) and CN gains (CN 3–4) were predictors of durvalumab response in metastatic breast cancer.”
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test
Tomlins, S. A., Hovelson, D. H., Harms, P. W., Drewery, S., Falkner, J. A., Fischer, A. K., Hipp, J., Kwiatkowski, K., de la Vega, L. L., Mitchell, K., et al. (2021) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2021.08.005 · Cited by 24
Automated next-generation profiling of genomic alterations in human cancers
Keefer, L. A., White, J. R., Wood, D. E., Gerding, K., Valkenburg, K. C., Riley, D. R. J., Gault, C. R., Papp, E., Vollmer, C. M., Greer, A. E., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30380-x · Cited by 24
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study
Shirota, H., Komine, K., Takahashi, M., Takahashi, S. I., Miyauchi, E., Niizuma, H., Tada, H., Shimada, M., Niihori, T., Aoki, Y., et al. (2022) · Cancer Medicine · doi:10.1002/cam4.5349 · Cited by 24
“3 TMB- H (5), ERBB2 amp (9), KRAS G12C (6), BRAF V600E (4), MSI- H (2), FGFR2 fusion (2), FGFR3 fusion (1), MET (2), BRCA1 (1), BRCA2 (1)”
Influential
Clinical and technical insights of tumour mutational burden in non-small cell lung cancer
Meri-Abad, M., Moreno‐Manuel, A., Gallach, S., Fariñas, S. C., Sirera, R., Herrero, C. C., & Lewintre, E. J. (2022) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2022.103891 · Cited by 25
Elevated tumor mutational burden and prolonged clinical response to anti-PD-L1 antibody in platinum-resistant recurrent ovarian cancer
Morse, C. B., Elvin, J. A., Gay, L. M., & Liao, J. B. (2017) · Gynecologic Oncology Reports · doi:10.1016/j.gore.2017.06.013 · Cited by 24
PD-L1 protein expression in tumour cells and immune cells in mismatch repair protein-deficient and -proficient colorectal cancer: the foundation study using the SP142 antibody and whole section immunohistochemistry
Jabbour, T. E., Ross, J. S., Sheehan, C. E., Affolter, K. E., Geiersbach, K. B., Boguniewicz, A. B., Ainechi, S., Bronner, M. P., Jones, D., & Lee, H. (2017) · Journal of Clinical Pathology · doi:10.1136/jclinpath-2017-204525 · Cited by 24
Role of Ancillary Techniques in Fluid Cytology
Yu, G. H., Glaser, L. J., & Gustafson, K. S. (2019) · Acta Cytologica · doi:10.1159/000496568 · Cited by 25
Larotrectinib, a selective tropomyosin receptor kinase inhibitor for adult and pediatric tropomyosin receptor kinase fusion cancers
Farago, A. F., & Demetri, G. D. (2020) · Future Oncology · doi:10.2217/fon-2019-0647 · Cited by 24
Diffuse large B-cell lymphoma: can genomics improve treatment options for a curable cancer?Preprint
Amin, A. D., Peters, T. L., Li, L., Rajan, S. S., Choudhari, R., Puvvada, S. D., & Schatz, J. H. (2017) · Molecular Case Studies · doi:10.1101/mcs.a001719 · Cited by 27
“The use of NGS routinely in the clinic is appealing because of the sheer amount of information one can garner for each patient to direct the most targeted and relevant therapies, with companies, such as Foundation Medicine, making real-time targeted exome sequencing a reality (Wagle et al. 2012; Frampton et al. 2013;…”
Background
Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an STK11 variantPreprint
Parachoniak, C. A., Rankin, A., Gaffney, B., Hartmaier, R. J., Spritz, D., Erlich, R., Miller, V. A., Morosini, D., Stephens, P. J., Ross, J. S., et al. (2017) · Molecular Case Studies · doi:10.1101/mcs.a000778 · Cited by 24
“(MAF) and indels with a ≥10% MAF with ≥99% accuracy (Frampton et al. 2013).”
BackgroundMethodInfluential
Clinical Response to Sorafenib in a Patient with Metastatic Colorectal Cancer and FLT3 Amplification
Moreira, R. B., Peixoto, R. D., & Cruz, M. R. (2015) · Case Reports in Oncology · doi:10.1159/000375483 · Cited by 23
Unresectable Cutaneous Squamous Cell Carcinoma of the Forehead With MLH1 Mutation Showing Dramatic Response to Programmed Cell Death Protein 1 Inhibitor Therapy
Assam, J. H., Powell, S. F., & Spanos, W. C. (2016) · Clinical skin cancer · doi:10.1016/j.clsc.2016.11.001 · Cited by 23
Patient-derived xenografts: A platform for accelerating translational research in prostate cancer
Davies, A., Wang, Y. Z., & Zoubeidi, A. (2017) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.03.013 · Cited by 23
Bioinformatory‐assisted analysis of next‐generation sequencing data for precision medicine in pancreatic cancer
Malgerud, L., Lindberg, J., Wirta, V., Gustafsson‐Liljefors, M., Karimi, M., Moro, C. F., Stecker, K., Picker, A., Huelsewig, C., Stein, M., et al. (2017) · Molecular Oncology · doi:10.1002/1878-0261.12108 · Cited by 24
“The quality and quantity of the DNA extracted from FFPE was sufficient to run NGS with good coverage and sufficient reads.”
BackgroundInfluential
Diagnostic Targeted Sequencing Panel for Hepatocellular Carcinoma Genomic Screening.
Paradiso, V., Garofoli, A., Tosti, N., Lanzafame, M., Perrina, V., Quagliata, L., Matter, M., Wieland, S., Heim, M., Piscuoglio, S., et al. (2018) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2018.07.003 · Cited by 13
Genomic Profiling of Blood-Derived Circulating Tumor DNA from Patients with Colorectal Cancer: Implications for Response and Resistance to Targeted Therapeutics
Choi, I. S., Kato, S., Fanta, P. T., Leichman, L., Okamura, R., Raymond, V. M., Lanman, R. B., Lippman, S. M., & Kurzrock, R. (2019) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-18-0965 · Cited by 23
“com), which is a clinical-grade NGS test (315 genes) (27).”
Background
Non-Iodine-Avid Disease Is Highly Prevalent in Distant Metastatic Differentiated Thyroid Cancer With Papillary Histology
Soe, M. H., Chiang, J. M., Flavell, R. R., Khanafshar, E., Mendoza, L., Kang, H., & Liu, C. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac305 · Cited by 23
Microsecretory adenocarcinoma of the skin harboring recurrent SS18 fusions: A cutaneous analog to a newly described salivary gland tumor
Bishop, J. A., Williams, E. A., McLean, A. C., Gagan, J., Rooper, L. M., Jordan, R. C., & LeBoit, P. E. (2022) · Journal of Cutaneous Pathology · doi:10.1111/cup.14271 · Cited by 23
“) including exons from 287 (version one) to 315 (version two) cancer-related genes plus select introns from 19 (version one) to 28 (version two) genes frequently rearranged in cancer, by methods previously described.(12)”
Method
Mismatch repair deficiency, next-generation sequencing-based microsatellite instability, and tumor mutational burden as predictive biomarkers for immune checkpoint inhibitor effectiveness in frontline treatment of advanced stage endometrial cancer
Hill, B. L., Graf, R. P., Shah, K., Danziger, N. A., Lin, D. I., Quintanilha, J. C. F., Li, G., Haberberger, J., Ross, J. S., Santin, A. D., et al. (2023) · International Journal of Gynecological Cancer · doi:10.1136/ijgc-2022-004026 · Cited by 23
Multiple PIK3CA mutation clonality correlates with outcomes in taselisib + fulvestrant-treated ER+/HER2–, PIK3CA-mutated breast cancers
Hutchinson, K. E., Chen, J. W., Savage, H. M., Stout, T. J., Schimmöller, F., Cortés, J., Dent, S. F., Harbeck, N., Jacot, W., Krop, I. E., et al. (2023) · Genome Medicine · doi:10.1186/s13073-023-01181-8 · Cited by 23
“To validate our findings, we similarly interrogated a large genomic database of patient breast cancer tumors that underwent comprehensive genomic profiling [17, 18].”
Method
An Overview of PARP Resistance in Ovarian Cancer from a Molecular and Clinical Perspective
Cordani, N., Bianchi, T., Ammoni, L. C., Cortinovis, D. L., Cazzaniga, M. E., Lissoni, A. A., Landoni, F., & Canova, S. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241511890 · Cited by 24
Relationship among DDR gene mutations, TMB and PD-L1 in solid tumour genomes identified using clinically actionable biomarker assays
Wang, D., Elenbaas, B., Murugesan, K., Shah, K., Montesion, M., Gounaris, I., Scheuenpflug, J., Locatelli, G., & Feng, Z. (2023) · npj Precision Oncology · doi:10.1038/s41698-023-00442-4 · Cited by 23
Baseline mutational profiles of patients with carcinoma of unknown primary origin enrolled in the CUPISCO study
Westphalen, C. B., Federer‐Gsponer, J. R., Pauli, C., Karapetyan, A. R., Chalabi, N., Durán-Pacheco, G., Beringer, A., Bochtler, T., Cook, N., Höglander, E., et al. (2023) · ESMO Open · doi:10.1016/j.esmoop.2023.102035 · Cited by 23
Epigenetic Mechanisms Underlying the Pathogenesis of Neurogenetic Diseases
Qureshi, I., & Mehler, M. F. (2014) · Neurotherapeutics · doi:10.1007/s13311-014-0302-1 · Cited by 23
“In fact, this era of molecular genetic diagnosis and targeted therapy has already arrived for other important classes of diseases, such as cancer [3,4], though many very important challenges remain.”
Background
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma
Zhao, Y., Liu, L., Zhou, T., Zhou, N.-N., Yang, Y.-P., Hou, X., Li, Y., Zhao, H.-Y., Huang, Y., & Zhang, L. (2016) · OncoTargets and Therapy · doi:10.2147/ott.s117097 · Cited by 23
Detection of an ALK Fusion in Colorectal Carcinoma by Hybrid Capture-Based Assay of Circulating Tumor DNA
Lai, A. Z., Schrock, A. B., Erlich, R., Ross, J. S., Miller, V. A., Yakirevich, E., Ali, S. M., & Braiteh, F. (2017) · The Oncologist · doi:10.1634/theoncologist.2016-0376 · Cited by 23
“The CLIA-validated tissue-based CGP assay (FoundationOne) was performed on DNA extracted from an FFPE sample as described previously [22].”
Method
Tumor Evolution, Heterogeneity, and Therapy for Our Patients With Advanced Cancer: How Far Have We Come?
El‐Deiry, W. S., Taylor, B. S., & Neal, J. W. (2017) · American Society of Clinical Oncology Educational Book · doi:10.1200/edbk_175524 · Cited by 28
Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues
Dehghani, M., Rosenblatt, K. P., Li, L., Rakhade, M., & Amato, R. J. (2019) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2019.00082 · Cited by 24
“Amplification-based and hybrid capture-based chemistries for targeted resequencing of tens to hundreds of cancer-related genes, as well as whole exome, genome, and transcriptome sequencing, can be used to study molecular profiles of cancer patients (Beadling et al., 2013; Frampton et al., 2013; Hadd et al., 2013; Sing…”
Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania ‘Luigi Vanvitelli’
Falco, V. D., Poliero, L., Vitiello, P. P., Ciardiello, D., Vitale, P., Zanaletti, N., Giunta, E. F., Terminiello, M., Caputo, V., Carlino, F., et al. (2020) · ESMO Open · doi:10.1136/esmoopen-2020-000675 · Cited by 23
A most exceptional response
Marx, V. (2015) · Nature · doi:10.1038/520389a · Cited by 22
Allogeneic Hematopoietic Stem Cell Transplantation with Myeloablative Conditioning Is Associated with Favorable Outcomes in Mixed Phenotype Acute Leukemia
Getta, B. M., Roshal, M., Zheng, J., Park, J. H., Stein, E. M., Levine, R. L., Papadopoulos, E. B., Jakubowski, A. A., Kernan, N. A., Steinherz, P. G., et al. (2017) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2017.06.026 · Cited by 22
“The ALL-associated translocation t(12;21)(p13;q22) was identified in 2 cases.”
Background
Exploiting Temozolomide-Induced Hypermutation With Pembrolizumab in a Refractory High-Grade Neuroendocrine Neoplasm: A Proof-of-Concept Case
Klempner, S. J., Hendifar, A. E., Waters, K. M., Nissen, N. N., Vail, E., Tuli, R., & Mita, A. C. (2020) · JCO Precision Oncology · doi:10.1200/po.20.00034 · Cited by 20
Biomarkers in Breast Cancer: An Integrated Analysis of Comprehensive Genomic Profiling and PD-L1 Immunohistochemistry Biomarkers in 312 Patients with Breast Cancer
Huang, R. S. P., Li, X., Haberberger, J., Sokol, E. S., Severson, E. A., Duncan, D. L., Hemmerich, A. C., Edgerly, C. I., Williams, E. A., Elvin, J. A., et al. (2020) · The Oncologist · doi:10.1634/theoncologist.2020-0449 · Cited by 22
“Comprehensive Genomic Profiling of Breast Carcinoma Samples CGP was performed using the FDA-approved FoundationOne CDx assay in a CLIA-certified and CAP-accredited laboratory (Foundation Medicine, Cambridge, MA) using previously described methods [12].”
Method
Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns
Mateo, L., Duran‐Frigola, M., Gris‐Oliver, A., Palafox, M., Scaltriti, M., Razavi, P., Chandarlapaty, S., Arribas, J., Bellet, M., Serra, V., et al. (2020) · Genome Medicine · doi:10.1186/s13073-020-00774-x · Cited by 22
“In order to increase the clinical translatability, we subsampled both datasets to consider those oncogenic alterations covered by MSK-IMPACT [34] or by Foundation Medicine [35] targeted gene panels to obtain DCO networks and TCT4U models that could be directly used with those kind of molecular profiles, which are beco…”
PIK3CA C-terminal frameshift mutations are novel oncogenic events that sensitize tumors to PI3K-α inhibition
Spangle, J. M., Von, T., Pavlick, D. C., Khotimsky, A., Zhao, J. J., & Roberts, T. M. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2000060117 · Cited by 22
Optimal tissue sampling during ERCP and emerging molecular techniques for the differentiation of benign and malignant biliary strictures
Kamp, E. J. C. A., Dinjens, W. N. M., Doukas, M., Bruno, M. J., de Jonge, P. J. F., Peppelenbosch, M. P., & de Vries, A. C. (2021) · Therapeutic Advances in Gastroenterology · doi:10.1177/17562848211002023 · Cited by 24

Authors: Frampton, G. M., Fichtenholtz, A., Otto, G. A., Wang, K., Downing, S. R., He, J., Schnall-Levin, M., White, J., Sanford, E. M., An, P., Sun, J., Juhn, F., Brennan, K., Iwanik, K., Maillet, A., Buell, J., White, E., Zhao, M., Balasubramanian, S., Terzic, S., Richards, T., Banning, V., Garcia, L., Mahoney, K., Zwirko, Z., Donahue, A., Beltran, H., Mosquera, J. M., Rubin, M. A., Dogan, S., Hedvat, C. V., Berger, M. F., Pusztai, L., Lechner, M., Boshoff, C., Jarosz, M., Vietz, C., Parker, A., Miller, V. A., Ross, J. S., Curran, J., Cronin, M. T., Stephens, P. J., Lipson, D., & Yelensky, R.
Affiliations: Foundation Medicine (United States) (US)
NewYork–Presbyterian Hospital (US)
Memorial Sloan Kettering Cancer Center (US)
Yale Cancer Center (US)
University College London (GB)
Corresponding author: Lipson, Doron
Yelensky, Roman
ORCID: Frampton, Garrett M
He, Jie
Sanford, Eric M
Sun, James
Zhao, Mandy
Beltran, Himisha
Mosquera, Juan Miguel
Rubin, Mark A
Hedvat, Cyrus V
Berger, Michael F
Pusztai, Lajos
Lechner, Matthias
Parker, Alex
Miller, Vincent A
Ross, Jeffrey S
Curran, John
Cronin, Maureen T
Lipson, Doron
Yelensky, Roman
Venue: Nature Biotechnology
Publisher: Springer Science and Business Media LLC
Published: 2013-11
Volume: 31
Issue: 11
Pages: 1023-1031
ISSN: 0733-222X (ISSN-L)
1087-0156
1546-1696
DOI: 10.1038/nbt.2696
PMC: PMC5710001
OpenAlex: W2160981405
Cited by: 2,157
References: 54
Citations by year: 2026: 91 · 2025: 122 · 2024: 139 · 2023: 215 · 2022: 208 · 2021: 188 · 2020: 213 · 2019: 185 · 2018: 195 · 2017: 180 · 2016: 182 · 2015: 159 · 2014: 76 · 2013: 2
FWCI: 49.14
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Biotechnology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: Wellcome Trust (WT093855MA)
National Cancer Institute (P30CA008748)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords: tumor genomic profiling, analytical method validation, formalin-fixed paraffin-embedded tissue, copy number alterations, indels, gene fusion, actionable mutations, mutant allele frequency, sensitivity and specificity, precision oncology
MeSH terms: DNA Mutational Analysis, Gene Frequency, Humans, Neoplasms, Sensitivity and Specificity, Reproducibility of Results, Sequence Analysis, DNA, Molecular Diagnostic Techniques, DNA Copy Number Variations

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Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

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