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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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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