Cited by 176Lung Cancer Treatments and MutationsCancer Genomics and DiagnosticsLung Cancer Diagnosis and Treatment

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A platform for rapid detection of multiple oncogenic mutations with relevance to targeted therapy in non-small-cell lung cancer.

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Su, Zengliu, Dias-Santagata, Dora, Duke, MarKeesa, Hutchinson, Katherine, Lin, Ya-Lun, Borger, Darrell R., Chung, Christine H., Massion, Pierre P., Vnencak-Jones, Cindy L., Iafrate, A. John, Pao, William·2011·The Journal of Molecular Diagnostics

DOI 10.1016/j.jmoldx.2010.11.010PMC PMC3070558

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Abstract

The identification of somatically acquired tumor mutations is increasingly important in the clinical management of cancer because the sensitivity of targeted drugs is related to the genetic makeup of individual tumors. Thus, mutational profiles of tumors can help prioritize anticancer therapy. We report herein the development and validation of two multiplexed assays designed to detect in DNA from FFPE tissue more than 40 recurrent mutations in nine genes relevant to existing and emerging targeted therapies in lung cancer. The platform involves two methods: a screen (SNaPshot) based on multiplex PCR, primer extension, and capillary electrophoresis that was designed to assess for 38 somatic mutations in eight genes (AKT1, BRAF, EGFR, KRAS, MEK1, NRAS, PIK3CA, and PTEN) and a PCR-based sizing assay that assesses for EGFR exon 19 deletions, EGFR exon 20 insertions, and HER2 exon 20 insertions. Both the SNaPshot and sizing assays can be performed rapidly, with minimal amounts of genetic material. Compared with direct sequencing, in which mutant DNA needs to compose 25% or more of the total DNA to easily detect a mutation, the SNaPshot and sizing assays can detect mutations in samples in which mutant DNA composes 1.56% to 12.5% and 1.56% to 6.25% of the total DNA, respectively. These robust, reliable, and relatively inexpensive assays should help accelerate adoption of a genotype-driven approach in the treatment of lung cancer.

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“…can cause cancer, and these mutations include those to the TP53 (tumor suppressor protein p53), PTEN (phosphatase and tensin homolog), and EGFR (epidermal growth factor receptor) genes in cancerous cells (Loeb et al. 2003; Su et al. 2011; Carneiro et al. 2014; Arena et al. 2015; Zhang et al. 2016).”
Background
Epidermal growth factor receptor tyrosine kinase inhibitors as initial therapy for non-small cell lung cancer: Focus on epidermal growth factor receptor mutation testing and mutation-positive patients
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Method
Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing
Harismendy, O., Schwab, R. B., Bao, L., Olson, J., Rozenzhak, S., Kotsopoulos, S. K., Pond, S. J. K., Crain, B., Chee, M. S., Messer, K. S., et al. (2011) · Genome biology · doi:10.1186/gb-2011-12-12-r124 · Cited by 96
“While most available clinical assays interrogate one or only a few commonly mutated loci in cancers, two published clinical assays, SNaPShot [3] and OncoMap [4], respectively target 38 mutations in 8 genes by single base extension assays and approximately 400 mutations in 33 genes by mass spectrometry.”
Background
Translating genomic information into clinical medicine: Lung cancer as a paradigmPreprint
Levy, M. A., Lovly, C. M., & Pao, W. J. (2012) · Genome Research · doi:10.1101/gr.131128.111 · Cited by 89
“…directed cancer treatment at Vanderbilt The Vanderbilt-Ingram Cancer Center was faced with the challenges discussed above when we implemented ‘‘first-generation’’ (SNaPshot-based) tumor gene mutation testing for NSCLC in our CLIA-certified molecular diagnostics lab in July 2010 (Su et al. 2011).”
BackgroundMethod
Patient-derived xenografts faithfully replicated clinical outcome in a phase II co-clinical trial of arsenic trioxide in relapsed small cell lung cancer
Owonikoko, T. K., Zhang, G., Kim, H. S., Stinson, R., Bechara, R. I., Zhang, C., Chen, Z., Saba, N. F., Pakkala, S., Pillai, R. N., et al. (2016) · Journal of Translational Medicine · doi:10.1186/s12967-016-0861-5 · Cited by 89
“Sample preparation and genetic mutation identification followed previously described methodologies [16].”
Method
Frequency and outcomes of brain metastases in patients with HER2‐mutant lung cancers
Offin, M. D., Feldman, D., Ni, A., Myers, M. L., Lai, W. V., Pentsova, E. I., Boire, A. A., Daras, M., Jordan, E., Solit, D. B., et al. (2019) · Cancer · doi:10.1002/cncr.32461 · Cited by 89
“Age, median (range), y 65 (24-90) 63 (34-85) 67 (35-90) 63 (24-89)”
A phase II study of temsirolimus and erlotinib in patients with recurrent and/or metastatic, platinum-refractory head and neck squamous cell carcinoma
Bauman, J. E., Arias‐Pulido, H., Lee, S. J., Fekrazad, M. H., Ozawa, H., Fertig, E. J., Howard, J. D., Bishop, J. A., Wang, H., Olson, G. T., et al. (2013) · Oral Oncology · doi:10.1016/j.oraloncology.2012.12.016 · Cited by 87
“PIK3CA and HRAS mutations were analyzed using DNA isolated from paraffin-embedded tissues as previously described.(29,30) The association of each mutation with RECIST was quantified with a Fisher’s exact test that defined groups as (1) wildtype vs.”
Prospective Enterprise-Level Molecular Genotyping of a Cohort of Cancer Patients
MacConaill, L. E., Garcia, E., Shivdasani, P., Ducar, M. D., Adusumilli, R., Breneiser, M., Byrne, M. N., Chung, L. P., Conneely, J., Crosby, L., et al. (2014) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2014.06.004 · Cited by 89
The Tissue Is the Issue: Personalized Medicine for Non-Small Cell Lung Cancer
Hirsch, F. R., Wynes, M. W., Gandara, D. R., & Bunn, P. A. (2010) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-10-2005 · Cited by 82
Integrating cancer genomic data into electronic health records
Warner, J. L., Jain, S. K., & Levy, M. A. (2016) · Genome Medicine · doi:10.1186/s13073-016-0371-3 · Cited by 84
“Although the turnaround is relatively fast, PCR can only be scaled to “ hotspot ” testing of 40 – 50 variants, such as the SNaPshot test [42].”
Method
Direct inhibition of PI3K in combination with dual HER2 inhibitors is required for optimal antitumor activity in HER2+ breast cancer cells
Rexer, B. N., Chanthaphaychith, S., Dahlman, K. B., & Arteaga, C. L. (2014) · Breast Cancer Research · doi:10.1186/bcr3601 · Cited by 80
“This assay involves multiplexed polymerase chain reaction (PCR) and multiplexed single-base primer extension, followed by capillary electrophoresis [27-29]; Vandana G Abramson et al.”
Method
ReCAP: Feasibility and Accuracy of Extracting Cancer Stage Information From Narrative Electronic Health Record Data
Warner, J. L., Levy, M. A., & Neuss, M. N. (2016) · Journal of Oncology Practice · doi:10.1200/jop.2015.004622 · Cited by 79
The role of cytology specimens in molecular testing of solid tumors: Techniques, limitations, and opportunities
Aisner, D. L., & Sams, S. B. (2012) · Diagnostic Cytopathology · doi:10.1002/dc.22820 · Cited by 76
Assessment of mutational profile of Japanese lung adenocarcinoma patients by multitarget assays: A prospective, single‐institute study
Serizawa, M., Koh, Y., Kenmotsu, H., Isaka, M., Murakami, H., Akamatsu, H., Mori, K. P., Abe, M., Hayashi, I., Taira, T., et al. (2014) · Cancer · doi:10.1002/cncr.28604 · Cited by 74
“We developed a tumor genotyping panel to screen patients with lung cancer for genetic alterations relevant to novel molecular-targeted therapeutics in ongoing clinical trials.(1-3,15) (Supporting Table 1; see online supporting information).”
Method
Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies
Fisher, K. E., Zhang, L., Wang, J., Smith, G. H., Newman, S., Schneider, T. M., Pillai, R. N., Kudchadkar, R. R., Owonikoko, T. K., Ramalingam, S. S., et al. (2016) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2015.11.006 · Cited by 71
“Forty NSCLC and two GI samples underwent multiplex PCR, primer extension, and capillary electrophoresis to detect 44 somatic hotspot mutations in 10 genes (AKT1, BRAF, EGFR, IDH1, IDH2, KRAS, MAP2K1, NRAS, PIK3CA, and PTEN), as described.(13) IDH1 exon 4 and IDH2 exon 4 were amplified using the following primers: 50-G…”
Method
Genetically informed lung cancer medicine
Pao, W. J., Iafrate, A. J., & Su, Z. (2010) · The Journal of Pathology · doi:10.1002/path.2788 · Cited by 69
Beyond Histology: Translating Tumor Genotypes into Clinically Effective Targeted Therapies
Meador, C. B., Micheel, C., Levy, M. A., Lovly, C. M., Horn, L., Warner, J. L., Johnson, D. B., Zhao, Z., Anderson, I. A., Sosman, J. A., et al. (2014) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-13-1591 · Cited by 68
“We implemented SNaPshot analysis at the Vanderbilt-Ingram Cancer Center (Nashville, TN) in July, 2010, for routine stratification of NSCLCs and melanomas into clinically relevant molecular subtypes (15, 20).”
Method
Multiplexed, image-based pooled screens in primary cells and tissues with PerturbView
Kudo, T., Meireles, A. M., Moncada, R., Chen, Y., Wu, P., Gould, J., Hu, X., Kornfeld, O., Jesudason, R., Foo, C., et al. (2025) · Nature Biotechnology · doi:10.1038/s41587-024-02391-0 · Cited by 74
“…each spot identified in the first step using an ad hoc quality score per sequencing call, based on the highest and second-highest intensity channels 83,84 , calculated as A table containing barcode information and associated quality scores was then used to assign the most common barcode reads to…”
From targets to targeted therapies and molecular profiling in non-small cell lung carcinoma
Thomas, A., Rajan, A., López-Chávez, A., Wang, Y., & Giaccone, G. (2012) · Annals of Oncology · doi:10.1093/annonc/mds478 · Cited by 63
SMART precision cancer medicine: a FHIR-based app to provide genomic information at the point of care
Warner, J. L., Rioth, M. J., Mandl, K. D., Mandel, J. C., Kreda, D., Kohane, I. S., Carbone, D., Oreto, R., Wang, L. L., Zhu, S., et al. (2016) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocw015 · Cited by 67
“Solid tumor oncology patients with certain histologies (eg, lung cancer, melanoma) seen at VUMC have, since July 2010, routinely undergone molecular profiling with SNaPshot, a fast, high-throughput, multiplex mutational profiling method based on the Applied Biosystems SNaPshot platform.(5,7) SNaPshot assays for common…”
Method
RAF265 Inhibits the Growth of Advanced Human Melanoma Tumors
Su, Y., Vilgelm, A. E., Kelley, M. C., Hawkins, O. E., Liu, Y., Boyd, K. L., Kantrow, S. M., Splittgerber, R. C., Short, S. P., Sobolik, T., et al. (2012) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-11-1122 · Cited by 62
Trametinib with or without Vemurafenib in BRAF Mutated Non-Small Cell Lung Cancer
Joshi, M., Rice, S. J., Liu, X., Miller, B., & Belani, C. P. (2015) · PLoS ONE · doi:10.1371/journal.pone.0118210 · Cited by 62
“) [21].”
High-Throughput Detection of Clinically Relevant Mutations in Archived Tumor Samples by Multiplexed PCR and Next-Generation Sequencing
Bourgon, R., Lu, S., Yan, Y., Lackner, M. R., Wang, W., Weigman, V., Wang, D., Guan, Y., Ryner, L. C., Koeppen, H., et al. (2014) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-13-3114 · Cited by 61
“primer extension assays, mass spectrometry and allele-specific PCR (asPCR) – have been successfully used in archived clinical samples(1-3), these technologies are limited to assaying well-characterized loci.”
Method
Current concepts on the molecular pathology of non-small cell lung carcinoma
Fujimoto, J., & Wistuba, I. I. (2014) · Seminars in Diagnostic Pathology · doi:10.1053/j.semdp.2014.06.008 · Cited by 58
Clinical Implementation of Comprehensive Strategies to Characterize Cancer Genomes: Opportunities and Challenges
MacConaill, L. E., Hummelen, P. V., Meyerson, M. M., & Hahn, W. C. (2011) · Cancer Discovery · doi:10.1158/2159-8290.cd-11-0110 · Cited by 57
Somatic Mutation Spectrum of Non–Small-Cell Lung Cancer in African Americans: A Pooled Analysis
Araujo, L. H., Lammers, P. E., Matthews-Smith, V., Eisenberg, R., González, A., Schwartz, A. G., Timmers, C. D., Shilo, K., Zhao, W., Natarajan, T. G., et al. (2015) · Journal of Thoracic Oncology · doi:10.1097/jto.0000000000000650 · Cited by 48
“SNaPshot/sizing assays were performed in a Clinical Laboratory Improvement Amendments-certified laboratory (Vanderbilt-Ingram Cancer Center) and followed standard protocols for sample selection and genotyping.(20) SNaPshot technique involved multiplex polymerase chain reaction, single-base extension, and analysis by c…”
Achievements and Challenges of Molecular Targeted Therapy in Melanoma
Sullivan, R. J., LoRusso, P. M., Boerner, S. A., & Dummer, R. (2015) · American Society of Clinical Oncology Educational Book · doi:10.14694/edbook_am.2015.35.177 · Cited by 49
Afatinib plus Cetuximab Delays Resistance Compared to Single-Agent Erlotinib or Afatinib in Mouse Models of TKI-Naïve EGFR L858R-Induced Lung Adenocarcinoma
Pirazzoli, V., Ayeni, D. O., Meador, C. B., Sanganahalli, B. G., Hyder, F., de Stanchina, E., Goldberg, S. B., Pao, W. J., & Politi, K. A. (2015) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-15-0620 · Cited by 46
“Genomic DNA was extracted using the DNeasy kit (Qiagen #69504) and was subjected to SNaPshot sequencing for T790M (16).”
Method
PIK3CA mutations as prognostic factor in squamous cell lung carcinoma
McGowan, M., Silye, A., Lund‐Iversen, M., Solberg, S. K., Helland, Å., Hirsch, F. R., & Brustugun, O. T. (2016) · Lung Cancer · doi:10.1016/j.lungcan.2016.11.018 · Cited by 46
BEAMing Up Personalized Medicine: Mutation Detection in Blood
Richardson, A. L., & Iglehart, J. D. (2012) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-12-0871 · Cited by 44
“Many cancer centers are developing gene mutation screening approaches that can be applied to archived FFPE tumor samples (8,9).”
Background
Intertumor heterogeneity of non-small-cell lung carcinomas revealed by multiplexed mutation profiling and integrative genomics
Tan, D. S. W., Camilleri‐Broët, S., Tan, E. H., Alifano, M., Lim, W., Bobbio, A., Zhang, S., Ng, Q., Ang, M., Iyer, N. G., et al. (2014) · International Journal of Cancer · doi:10.1002/ijc.28750 · Cited by 43
“MET 16 (3,13) 2 (1,1) 2 (0,2) 2 (1,1) 0 1 (0,1) 0 0 0 0 7 (43.”
Multiplex Detection of DNA Mutations by the Fluorescence Fingerprint Spectrum Technique
Song, J., Zhang, J., Lv, F., Cheng, Y., Wang, B., Feng, L., Liu, L., & Wang, S. (2013) · Angewandte Chemie International Edition · doi:10.1002/anie.201305461 · Cited by 42
The Determinants of Head and Neck Cancer: Unmasking the PI3K Pathway Mutations
Squarize, F. S. G. C. H. (2013) · Journal of Carcinogenesis & Mutagenesis · doi:10.4172/2157-2518.s5-003 · Cited by 45
“Potential effects of HNSCC mutations are suggested by where PIK3CB PIK3C1 P42338 PIK3CB p110β, PI3Kβ Synonymous p.P422P [2] PIK3CD O00329 PIK3CD p110δ, PI3Kδ Missense p.T423S [5] Missense p.T458S [2] PIK3CG P48736 PIK3CG p110γ, PI3Kγ Missense p.A156V [2] Missense p.G491E [2] Missense p.L843H [2] Missense p.P526S [2] M…”
Influential
Next‐generation sequencing and clinical outcomes of patients with lung adenocarcinoma treated with stereotactic body radiotherapy
Cassidy, R. J., Zhang, X., Patel, P. R., Shelton, J. W., Escott, C., Sica, G., Rossi, M. R., Hill, C. E., Steuer, C. E., Pillai, R. N., et al. (2017) · Cancer · doi:10.1002/cncr.30794 · Cited by 43
“SNaPshot is a multiplex polymerase chain reaction assay followed by single base primer excision, whose methods have been described previously.(33) TruSight Tumor 26 is a next-generation sequencing platform that allows for highly accurate variant analysis, and the methods for which previously have been detailed.”
Method
Driver mutations among never smoking female lung cancer tissues in China identify unique EGFR and KRAS mutation pattern associated with household coal burning
Hosgood, H. D., Pao, W. J., Rothman, N., Hu, W., Pan, Y., Kuchinsky, K., Jones, K. D., Xu, J., Vermeulen, R. C. H., Simko, J. P., et al. (2013) · Respiratory Medicine · doi:10.1016/j.rmed.2013.08.018 · Cited by 41
“Of note, PCR carryover of the EGFR exon 18 mutation is unlikely to explain our results, as no template controls are used throughout our assay [20].”
Prospective genetic profiling of squamous cell lung cancer and adenosquamous carcinoma in Japanese patients by multitarget assays
Kenmotsu, H., Serizawa, M., Koh, Y., Isaka, M., Takahashi, T., Taira, T., Ono, A., Maniwa, T., Takahashi, S., Mori, K. P., et al. (2014) · BMC Cancer · doi:10.1186/1471-2407-14-786 · Cited by 36
“We developed a tumor-genotyping panel to screen lung cancer patients for genetic alterations relevant to novel molecular-targeted therapeutics in ongoing clinical trials [12-15] (Additional file 1: Table S1).”
Genomic Adequacy from Solid Tumor Core Needle Biopsies of ex Vivo Tissue and in Vivo Lung Masses: Prospective Study
Jamshidi, N., Huang, D., Abtin, F. G., Loh, C. T., Kee, S. T., Suh, R. D., Yamamoto, S., Das, K., Dry, S., Binder, S. W., et al. (2016) · Radiology · doi:10.1148/radiol.2016132230 · Cited by 37
Thymic neoplasm: a rare disease with a complex clinical presentation.
Rashid, O. M., Cassano, A. D., & Takabe, K. (2013) · Europe PMC (PubMed Central) · doi:10.3978/j.issn.2072-1439.2013.01.12 · Cited by 35
Lung Cancer Genotype-Based Therapy and Predictive Biomarkers: Present and Future
Cagle, P. T., & Allen, T. C. (2012) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2012-0508-ra · Cited by 36
A Multicenter Blinded Study Evaluating EGFR and KRAS Mutation Testing Methods in the Clinical Non–Small Cell Lung Cancer Setting—IFCT/ERMETIC2 Project Part 1
Beau‐Faller, M., Blons, H., Domerg, C., Gajda, D., Richard, N., Escande, F., Solassol, J., Denis, M. G., Cayre, A., Nanni‐Metellus, I., et al. (2013) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2013.07.009 · Cited by 36
The Molecular Pathology of Lung Cancer
Sholl, L. M. (2016) · Surgical pathology clinics · doi:10.1016/j.path.2016.04.003 · Cited by 36
Molecular profiling of non-small cell lung cancer
Forsythe, M. L., Alwithenani, A., Bethune, D., Castonguay, M., Drucker, A., Flowerdew, G. J., French, D., Fris, J., Greer, W., Henteleff, H., et al. (2020) · PLoS ONE · doi:10.1371/journal.pone.0236580 · Cited by 38
Mesothelioma patient derived tumor xenografts with defined BAP1 mutations that mimic the molecular characteristics of human malignant mesothelioma
Kalra, N., Zhang, J., Thomas, A., Xi, L., Cheung, M., Talarchek, J. N., Burkett, S. S., Tsokos, M., Chen, Y., Raffeld, M. A., et al. (2015) · BMC Cancer · doi:10.1186/s12885-015-1362-2 · Cited by 33
“Briefly PCR amplification was initially performed with primers flanking the mutation hotspot under co-amplification at lower denaturation temperature (COLD)-PCR conditions and was followed by targeted pyrosequencing on a PyroMark Q24 instrument (Qiagen) or by capillary electrophoresis using a Genetic Analyzer 3130xl (…”
Method
Genomic profiling toward precision medicine in non-small cell lung cancer: getting beyond EGFR
Whitsett, T. G., Richer, A. L., Friel, J. M., Carson, V. M., & Inge, L. J. (2015) · Pharmacogenomics and Personalized Medicine · doi:10.2147/pgpm.s52845 · Cited by 35
Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes
Fernández‐Mercado, M., Burns, A., Pellagatti, A., Giagounidis, A. A. N., Germing, U., Agirre, X., Prósper, F., Aul, C., Killick, S. B., Wainscoat, J. S., et al. (2013) · Haematologica · doi:10.3324/haematol.2013.086686 · Cited by 33
“The development of specific mutation enrichment or detection strategies has greatly increased this sensitivity.(32,33) In keeping with the improved power of mutation detection of next-generation sequencing over traditional sequencing techniques, we identified previously undetected mutations in the validation cohort (t…”
Result
Epidermal growth factor receptor signaling pathway is frequently altered in ampullary carcinoma at protein and genetic levels
Mikhitarian, K., Pollen, M., Zhao, Z., Shyr, Y., Merchant, N. B., Parikh, A. A., Revetta, F. L., Washington, M. K., Vnencak‐Jones, C. L., & Shi, C. (2013) · Modern Pathology · doi:10.1038/modpathol.2013.185 · Cited by 33
“In general, the assay includes a multiplex PCR with 100-200 ng of template DNA, a multiplex base extension assay including the SNaPshot reaction mixture ((Life Technologies Corporation, Carlsbad, California) and mutation detection by capillary electrophoresis on an ABI Genetic Analyzer 3130Xl[33].”
Method
The new concepts on overcoming drug resistance in lung cancer
Dong, X., Xu, C., Lei, P., & Zhang, W. (2014) · Drug Design Development and Therapy · doi:10.2147/dddt.s60672 · Cited by 32
Detection of Circulating BRAF in Patients with Papillary Thyroid Carcinoma
Lubitz, C. C., Parangi, S., Holm, T. M., Bernasconi, M. J., Schalck, A. P., Suh, H., Economopoulos, K. P., Gunda, V., Donovan, S. E., Sadow, P. M., et al. (2015) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2015.08.003 · Cited by 32
“Patients with PTC had BRAF mutational analysis on tumor tissue as part of standard of care via SNaPshot (Massachusetts General Hospital Cancer Center Translational Research Laboratory).(27,28) For PTC patients in whom mutational status was not obtained at the discretion of the surgeon and for the benign lesions, BRAF…”
Method
Simultaneous multiple single nucleotide polymorphism detection based on click chemistry combined with DNA-encoded probes
Zhou, Q., Yuan, F., Zhang, X., Zhou, Y., & Zhang, X. (2018) · Chemical Science · doi:10.1039/c8sc00307f · Cited by 32
Non-small-cell lung cancer
Agteresch, H. J., Pieter, C., van der Gaast, A., & Wilson, J. H. P. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.48 · Cited by 32
Recent Advances in Personalized Lung Cancer Medicine
Okimoto, R. A., & Bivona, T. G. (2014) · Personalized Medicine · doi:10.2217/pme.14.19 · Cited by 29
Liquid biopsy for detection of actionable oncogenic mutations in human cancers and electric field induced release and measurement liquid biopsy (eLB)
Tu, M. K., Chia, D., Wei, F., & Wong, D. T. (2015) · The Analyst · doi:10.1039/c5an01863c · Cited by 29
Functional KRAS mutations and a potential role for PI 3K/ AKT activation in Wilms tumors
Polosukhina, D., Love, H. D., Correa, H., Su, Z., Dahlman, K. B., Pao, W. J., Moses, H. L., Arteaga, C. L., Lovvorn, H. N., Zent, R., et al. (2017) · Molecular Oncology · doi:10.1002/1878-0261.12044 · Cited by 29
“followed by capillary electrophoresis (Dias-Santagata et al., 2010; Lovly et al., 2012; Su et al., 2011).”
Method
Phase Ib Study of Safety and Pharmacokinetics of the PI3K Inhibitor SAR245408 with the HER3-Neutralizing Human Antibody SAR256212 in Patients with Solid Tumors
Abramson, V. G., Supko, J. G., Ballinger, T. J., Cleary, J. M., Hilton, J. F., Tolaney, S. M., Chau, N. G., Cho, D. C., Pearlberg, J., Lager, J. J., et al. (2016) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-16-1764 · Cited by 29
Personalized Cancer Diagnostics
Corless, C. L. (2011) · Science · doi:10.1126/science.1216427 · Cited by 28
Somatic DNA mutation analysis in targeted therapy of solid tumours.
Yu, B., O'Toole, S. A., & Trent, R. J. (2015) · PubMed Central · doi:10.3978/j.issn.2224-4336.2015.04.04 · Cited by 29
“Extension-based assays such as SNaPShot® and mass spectrometry are commonly used for somatic DNA testing with acceptable sensitivity (Table 1) (24-26).”
BackgroundMethod
Malignant pleural disease is highly associated with subsequent peritoneal metastasis in patients with stage IV non-small cell lung cancer independent of oncogene status
Patil, T., Aisner, D. L., Noonan, S. A., Bunn, P. A., Purcell, W. T., Carr, L. L., Camidge, D. R., & Doebele, R. C. (2016) · Lung Cancer · doi:10.1016/j.lungcan.2016.03.007 · Cited by 26

Authors: Su, Z., Dias-Santagata, D., Duke, M., Hutchinson, K., Lin, Y.-L., Borger, D. R., Chung, C. H., Massion, P. P., Vnencak-Jones, C. L., Iafrate, A. J., & Pao, W.
Affiliations: Vanderbilt University (US)
Massachusetts General Hospital (US)
Corresponding author: Pao, William
ORCID: Dias-Santagata, Dora
Hutchinson, Katherine
Chung, Christine H.
Massion, Pierre P.
Iafrate, A. John
Pao, William
Venue: The Journal of Molecular Diagnostics
Publisher: Elsevier BV
Published: 2011-01
Volume: 13
Issue: 1
Pages: 74-84
ISSN: 1525-1578 (ISSN-L)
DOI: 10.1016/j.jmoldx.2010.11.010
PMC: PMC3070558
OpenAlex: W2033780390
Cited by: 176
References: 36
Citations by year: 2026: 1 · 2025: 5 · 2024: 4 · 2022: 1 · 2021: 3 · 2020: 4 · 2019: 3 · 2018: 5 · 2017: 10 · 2016: 21 · 2015: 29 · 2014: 32 · 2013: 25 · 2012: 23
FWCI: 23.94
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 3268 d)
Locations: Journal of Molecular Diagnostics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: NIH/National Cancer Institute (R01 CA121210, P01 CA129243, U54 CA143798, CA102353, RC2-CA148394-01)
VICC Specialized Program of Research Excellence in Lung Cancer (CA90949)
Vanderbilt-Ingram Cancer Center Core (CA68485)
V Foundation
TJ Martell Foundation
Kleberg Foundation
Topics: Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Lung Cancer Treatments and Mutations
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Lung Cancer Diagnosis and Treatment
Keywords: non-small cell lung cancer, somatic mutations, targeted therapy, snapshots, EGFR exon 19 deletion, EGFR exon 20 insertion, HER2 exon 20 insertion, AKT1, BRAF, KRAS, MEK1, NRAS, PIK3CA, PTEN, formalin-fixed paraffin-embedded tissue
MeSH terms: Carcinoma, Non-Small-Cell Lung, DNA, Neoplasm, Genetic Testing, Humans, Lung Neoplasms, Mutation, Reproducibility of Results, Cell Line, Tumor, High-Throughput Nucleotide Sequencing

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A platform for rapid detection of multiple oncogenic mutations with relevance to targeted therapy in non-small-cell lung cancer.

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