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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Sireci, A. N., Aggarwal, V. S., Turk, A. T., Gindin, T. S., MANSUKHANI, M. M., & Hsiao, S. J. (2016) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.10.008 · Cited by 29
Genetic characterisation of molecular targets in carcinoma of unknown primary
Clynick, B., Dessauvagie, B. F., Sterrett, G. F., Harvey, N. T., Allcock, R. J. N., Saunders, C. M., Erber, W. N., & Meehan, K. L. (2018) · Journal of Translational Medicine · doi:10.1186/s12967-018-1564-x · Cited by 29
Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer
Kaur, P., Porras, T. B., Ring, A., Carpten, J. D., & Lang, J. E. (2019) · Scientific Reports · doi:10.1038/s41598-018-37574-8 · Cited by 29
FGFR2-Altered Gastroesophageal Adenocarcinomas Are an Uncommon Clinicopathologic Entity with a Distinct Genomic Landscape
Klempner, S. J., Madison, R. W., Pujara, V., Ross, J. S., Miller, V. A., Ali, S. M., Schrock, A. B., Kim, S. T., Maron, S. B., Dayyani, F., et al. (2019) · The Oncologist · doi:10.1634/theoncologist.2019-0121 · Cited by 29
“Comprehensive genomic profiling (CGP) was conducted using a hybrid capture-based genomic profiling assay as previously described [25].”
Method
Standardization of the preanalytical phase of DNA extraction from fixed tissue for next-generation sequencing analyses
Kofanova, O. A., Bellora, C., Frasquilho, S., Antunes, L., Hamot, G., Mathay, C., Mommaerts, K., Muller, A., Dewitt, B., & Betsou, F. (2019) · New Biotechnology · doi:10.1016/j.nbt.2019.07.005 · Cited by 29
Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation
Fernandes, G., Jacob, M., Martins, N. A., Moura, C. S., Guimarães, S., Reis, J. P., Justino, A., Pina, M. J., Cirnes, L., Sousa, C., et al. (2019) · Cancers · doi:10.3390/cancers11091229 · Cited by 29
Targeted genomic analysis of 364 adrenocortical carcinomas
Pozdeyev, N. V., Fishbein, L. M., Gay, L. M., Sokol, E. S., Hartmaier, R. J., Ross, J. S., Darabi, S., Demeure, M. J., Kar, A., Foust, L. J., et al. (2021) · Endocrine Related Cancer · doi:10.1530/erc-21-0040 · Cited by 30
Homologous Recombination Repair Gene Mutation Characterization by Liquid Biopsy: A Phase II Trial of Olaparib and Abiraterone in Metastatic Castrate-Resistant Prostate Cancer
Carr, T. H., Adelman, C. A., Barnicle, A., Kozarewa, I., Luke, S., Lai, Z., Hollis, S., Dougherty, B. A., Harrington, E. A., Kang, J., et al. (2021) · Cancers · doi:10.3390/cancers13225830 · Cited by 29
“(FMI; Cambridge, MA, USA) using the Clinical Laboratory Improvement Amendments (CLIA) FoundationOneTM solid tumour test [22].”
Method
The Molecular Landscape of Pancreatobiliary Cancers for Novel Targeted Therapies From Real-World Genomic Profiling
Umemoto, K., Yamamoto, H., Oikawa, R., Takeda, H., Doi, A., Horie, Y., Arai, H., Ogura, T., Mizukami, T., Izawa, N., et al. (2022) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djac106 · Cited by 27
Squamous Cell Transformation of Primary Lung Adenocarcinoma in a Patient With EML4-ALK Fusion Variant 5 Refractory to ALK Inhibitors
Gong, J., Gregg, J. P., Ma, W., Yoneda, K. Y., Moore, E. H., Daly, M. E., Zhang, Y., Williams, M. J., & Li, T. (2019) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2019.7291 · Cited by 29
Long-term outcomes and clinicogenomic correlates in recurrent, metastatic adenoid cystic carcinoma
Hanna, G. J., Bae, J. E., Lorch, J. H., Schoenfeld, J. D., Margalit, D. N., Tishler, R. B., Haddad, R. I., & Chau, N. G. (2020) · Oral Oncology · doi:10.1016/j.oraloncology.2020.104690 · Cited by 29
Genomic Landscape of Mixed-Phenotype Acute Leukemia
Hennawi, M., Pakasticali, N., Tashkandi, H., & Hussaini, M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231911259 · Cited by 28
“Sensitivity, specificity, and reproducibility were reported to be greater than 95% [20,21].”
Background
Unresectable biliary tract cancer: Current and future systemic therapy
Zhang, D., Dorman, K., Westphalen, C. B., Haas, M., Ormanns, S., Neumann, J. H. L., Seidensticker, M., Ricke, J., Toni, E. N. D., Klauschen, F., et al. (2024) · European Journal of Cancer · doi:10.1016/j.ejca.2024.114046 · Cited by 28
“One limitation of a DNA-based NGS panel is the need for prediction of gene expression from the detected genetic alterations [21].”
Ligand-activated EGFR/MAPK signaling but not PI3K, are key resistance mechanisms to EGFR-therapy in colorectal cancer
Qu, X., Hamidi, H., Johnson, R. M., Sokol, E. S., Lin, E., Eng, C., Kim, T.-W., Bendell, J. C., Sivakumar, S., Kaplan, B., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-59588-3 · Cited by 31
“Genomic alterations in archival tumor samples collected at diagnosis or surgery from patients who participated in the IMblaze370 study were detected using the FoundationOne® (F1) assay (Foundation Medicine, Cambridge, MA) following standard procedure 50 .”
Low-level constitutional mosaicism of a de novoBRCA1 gene mutation
Friedman, E., Efrat, N., Soussan‐Gutman, L., Dvir, A., Kaplan, Y., Ekstein, T., Nykamp, K., Powers, M. P., Rabideau, M. M., Sorenson, J. M., et al. (2015) · British Journal of Cancer · doi:10.1038/bjc.2015.14 · Cited by 28
Considerations of developing an NGS assay for clinical applications in precision oncology: The NCI-MATCH NGS assay experience
Lih, C., & Takebe, N. (2017) · Current Problems in Cancer · doi:10.1016/j.currproblcancer.2017.05.003 · Cited by 27
Societal challenges of precision medicine: Bringing order to chaos
Salgado, R., Moore, H. M., Martens, J. W. M., Lively, T., Malik, S. M., McDermott, U., Michiels, S., Moscow, J. A., Tejpar, S., McKee, T. C., et al. (2017) · European Journal of Cancer · doi:10.1016/j.ejca.2017.07.028 · Cited by 29
“CGPs have the potential to address challenges associated with the selection of appropriate targeted therapies by identifying different tumour-associated alterations across a large panel of cancer relevant genes, including base substitutions, insertion-deletions, gene copy number alterations and preselected chromosomal…”
Background
Aggressive-Variant Microsatellite-Stable POLE Mutant Prostate Cancer With High Mutation Burden and Durable Response to Immune Checkpoint Inhibitor Therapy
Lee, L., Ali, S. M., Genega, E. M., Reed, D., Sokol, E. S., & Mathew, P. F. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00097 · Cited by 28
pyNBS: a Python implementation for network-based stratification of tumor mutations
Huang, J. K.-L., Jia, T., Carlin, D. E., & Ideker, T. E. (2018) · Bioinformatics · doi:10.1093/bioinformatics/bty186 · Cited by 28
Heterogeneity and Coexistence of T790M and T790 Wild-Type Resistant Subclones Drive Mixed Response to Third-Generation Epidermal Growth Factor Receptor Inhibitors in Lung Cancer
Piotrowska, Z., Hazar-Rethinam, M. H., Rizzo, C., Nadres, B., Seventer, E. E. V., Shahzade, H. A., Lennes, I. T., Iafrate, A. J., Dias-Santagata, D. C., Leshchiner, I., et al. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00263 · Cited by 28
Temporal and spatial effects and survival outcomes associated with concordance between tissue and blood KRAS alterations in the pan‐cancer setting
Mardinian, K., Okamura, R., Kato, S., & Kurzrock, R. (2019) · International Journal of Cancer · doi:10.1002/ijc.32510 · Cited by 28
“com).(20) Average depth of sequencing was greater than 250×, with 100× at >99% of exons.”
Background
Comparison of Real-Time Fluorescence Confocal Digital Microscopy With Hematoxylin-Eosin–Stained Sections of Core-Needle Biopsy Specimens
Krishnamurthy, S., Sabir, S. H., Ban, K., Wu, Y., Sheth, R. A., Tam, A. L., Meric‐Bernstam, F., Shaw, K. M., Mills, G. B., Bassett, R. L., et al. (2020) · JAMA Network Open · doi:10.1001/jamanetworkopen.2020.0476 · Cited by 28
PD‐L1 versus tumor mutation burden: Which is the better immunotherapy biomarker in advanced non‐small cell lung cancer?
Dong, A., Zhao, Y., Li, Z., & Hu, H. (2020) · The Journal of Gene Medicine · doi:10.1002/jgm.3294 · Cited by 29
Detection of ESR1 Mutations Based on Liquid Biopsy in Estrogen Receptor-Positive Metastatic Breast Cancer: Clinical Impacts and Prospects
Liao, H., Huang, W., Pei, W., & Li, H. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.587671 · Cited by 28
“This test also reportsblood tumormutational burden,microsatellite instability, and tumor fraction values (61).”
Background
Molecular profiling of Asian patients with advanced melanoma receiving check-point inhibitor treatment
Byeon, S., Cho, H. J., Jang, K., Kwon, M., Lee, J., Lee, J., & Kim, S. T. (2021) · ESMO Open · doi:10.1016/j.esmoop.2020.100002 · Cited by 28
“The methods for DNA/RNA extraction and for sequencing/ reporting/validation of the assay were carried out according to previously published reports.(19) As the genomic profiles of two of the patients were identified using extracted RNA, their genomic data were excluded from further analysis.”
Method
The Association Between Inflammation and Immunosuppression: Implications for ICI Biomarker Development
Sacdalan, D. B., & Lucero, J. A. (2021) · OncoTargets and Therapy · doi:10.2147/ott.s278089 · Cited by 28
Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra®
White, T., Szelinger, S., Lobello, J. R., King, A., Aldrich, J., Garinger, N., Halbert, M. E., Richholt, R., Mastrian, S. D., Babb, C. S., et al. (2021) · Oncotarget · doi:10.18632/oncotarget.27945 · Cited by 27
“CDx: Companion Diagnostics; CGP: Comprehensive Genomic Profiling; CNA: Copy Number Alterations; CNV: Copy Number Variant; DNA: Deoxyribonucleic Acid; FFPE: Formalin-Fixed ParaffinEmbedded; FISH: Fluorescence In Situ Hybridization; IHC: Immunohistochemistry; INDEL: Insertion Deletion; IGV: Integrative Genomics Viewer;…”
Influential
Clinical genomic profiling to identify actionable alterations for very early relapsed triple-negative breast cancer patients in the Chinese population
Wang, L., Zhai, Q., Lu, Q., Lee, K., Zheng, Q., Hong, R., & Wang, S. (2021) · Annals of Medicine · doi:10.1080/07853890.2021.1966086 · Cited by 29
“The F1CDx-targeted NGS platform has been described and validated before, and the methods are briefly described here [10].”
The clinical utility of next-generation sequencing for bone and soft tissue sarcoma
Gusho, C. A., Weiss, M. C., Lee, L., Gitelis, S., Blank, A. T., Wang, D., & Batus, M. (2021) · Acta Oncologica · doi:10.1080/0284186x.2021.1992009 · Cited by 30
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma
Dan, S., Yuan, Y., Wang, Y., Chen, C., Gao, C., Yu, S., Liu, Y., Song, W., Asan, Zhu, H., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0159355 · Cited by 28
“Then, a Bayesian methodology described by Frampton et al [21] was used to call base substitution,and a base substitution would be called if the probability of being sequencing error was lower than 1%.”
Method
BRCA1 reversion mutation acquired after treatment identified by liquid biopsy
Mayor, P. C., Gay, L. M., Lele, S., & Elvin, J. A. (2017) · Gynecologic Oncology Reports · doi:10.1016/j.gore.2017.06.010 · Cited by 28
Barcode-free next-generation sequencing error validation for ultra-rare variant detection
Yeom, H., Lee, Y., Ryu, T., Noh, J., Lee, A. C., Lee, H., Kang, E., Song, S. W., & Kwon, S. (2019) · Nature Communications · doi:10.1038/s41467-019-08941-4 · Cited by 28
Liquid biopsy in biliary tract cancer from blood and bile samples: current knowledge and future perspectives
Arrichiello, G., Nacca, V., Paragliola, F., & Giunta, E. F. (2022) · Exploration of Targeted Anti-tumor Therapy · doi:10.37349/etat.2022.00087 · Cited by 27
Precision oncology: current and future platforms for treatment selection
Tang, X., Berger, M. F., & Solit, D. B. (2024) · Trends in cancer · doi:10.1016/j.trecan.2024.06.009 · Cited by 32
Clinical application of whole-genome sequencing of solid tumors for precision oncology
Kim, R., Kim, S., Oh, B. B.-L., Yu, W. S., Kim, C. W., Hur, H., Son, S., Yang, M. J., Cho, D. S., Ha, T., et al. (2024) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01288-x · Cited by 28
A clinical road map for single-cell omics
Skinnider, M. A., Courtine, G., Bloch, J., & Squair, J. W. (2025) · Cell · doi:10.1016/j.cell.2025.06.009 · Cited by 29
Evaluation of an integrated clinical workflow for targeted next-generation sequencing of low-quality tumor DNA using a 51-gene enrichment panel
Choudhary, A., Mambo, E., Sanford, T., Boedigheimer, M. J., Twomey, B., Califano, J. A., Hadd, A. G., Oliner, K. S., Beaudenon, S. L., Latham, G. J., et al. (2014) · BMC Medical Genomics · doi:10.1186/s12920-014-0062-0 · Cited by 27
“Additional panels for targeted NGS are the subject of growing clinical interest, including recent reports describing the clinical laboratory validation of capture hybridization panels that enrich FFPE DNA [15,18] and a focused thyroid cancer TAS panel [19], as well as a clinical research study using a limited-content…”
BackgroundMethodInfluential
Comprehensive genetic testing identifies targetable genomic alterations in most patients with non-small cell lung cancer, specifically adenocarcinoma, single institute investigation
Vigneswaran, J., Tan, Y. C., Murgu, S. D., Won, B. M., Patton, K. A., Villaflor, V. M., Hoffman, P. C., Hensing, T. A., Hogarth, D. K., Malik, R., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.7739 · Cited by 27
Single-Center Experience with a Targeted Next Generation Sequencing Assay for Assessment of Relevant Somatic Alterations in Solid Tumors
Paasinen-Sohns, A., Koelzer, V. H., Frank, A., Schafroth, J., Gisler, A., Sachs, M., Graber, A., Rothschild, S. I., WICKI, A. N., Cathomas, G., et al. (2017) · Neoplasia · doi:10.1016/j.neo.2017.01.003 · Cited by 27
“The Oncomine Focus Assay (OFA, Thermo Fisher Scientific, San Francisco, CA) is a targeted, multibiomarker NGS assay that enables fast simultaneous detection of hundreds of variants across 52 genes relevant to solid tumors [8,11].”
Background
Successful Treatment of Recurrent Primitive Myxoid Mesenchymal Tumor of Infancy WithBCORInternal Tandem Duplication
Cramer, S., Li, R., Ali, S. M., Bradley, J. A., Kim, H. K., & Pressey, J. G. (2017) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2017.0124 · Cited by 27
Genomic Testing in Lung Cancer: Past, Present, and Future
Mascaux, C., Tsao, M., & Hirsch, F. R. (2018) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2017.7019 · Cited by 27
Response to Checkpoint Inhibitor Therapy in Advanced Classic Kaposi Sarcoma: A Case Report and Immunogenomic Study
Saller, J. J., Walko, C. M., Millis, S. Z., Henderson‐Jackson, E., Makanji, R. J., & Brohl, A. S. (2018) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2018.7018 · Cited by 27
The role of circulating free DNA in the management of NSCLC
Abate, R. E., Pasquale, R., Fenizia, F., Rachiglio, A. M., Roma, C., Bergantino, F., Forgione, L., Lambiase, M., Sacco, A., Piccirillo, M. C., et al. (2018) · Expert Review of Anticancer Therapy · doi:10.1080/14737140.2019.1548938 · Cited by 26
Multiple Facets of Marine Invertebrate Conservation Genomics
Lopez, J. V., Kamel, B., Medina, M., Collins, T. M., & Baums, I. B. (2018) · Annual Review of Animal Biosciences · doi:10.1146/annurev-animal-020518-115034 · Cited by 29
“Usually some additional steps are needed to repair the DNA, and kits for this are available (113).”
Background
Development and validation of a targeted gene sequencing panel for application to disparate cancers
McCabe, M. J., Gauthier, M.-E. A., Chan, C., Thompson, T. J., Sousa, S. M. C. D., Puttick, C., Grady, J. P., Gayevskiy, V., Tao, J., Ying, K., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-52000-3 · Cited by 27
Genetic determinants of the molecular portraits of epithelial cancers
Xia, Y., Fan, C., Hoadley, K. A., Parker, J. S., & Perou, C. M. (2019) · Nature Communications · doi:10.1038/s41467-019-13588-2 · Cited by 27
Concordance between TP53 alterations in blood and tissue: impact of time interval, biopsy site, cancer type and circulating tumor DNA burden
Bieg-Bourne, C. C., Okamura, R., & Kurzrock, R. (2020) · Molecular Oncology · doi:10.1002/1878-0261.12672 · Cited by 27
“Next-generation sequencing was performed by Foundation Medicine (Cambridge, MA, USA) (236–315 genes) as previously described (Frampton et al., 2013).”
Method
Multiscale-omic assessment of EWSR1-NFATc2 fusion positive sarcomas identifies the mTOR pathway as a potential therapeutic target
Seligson, N. D., Maradiaga, R., Stets, C. W., Katzenstein, H. M., Millis, S. Z., Rogers, A. D., Hays, J. L., & Chen, J. L. (2021) · npj Precision Oncology · doi:10.1038/s41698-021-00177-0 · Cited by 27

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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