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Cited by 90Cancer Genomics and DiagnosticsGenomics and Rare DiseasesLung Cancer Treatments and Mutations

The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.

On the Road to Precision Cancer Medicine: Analysis of Genomic Biomarker Actionability in 439 Patients

Schwaederle, Maria, Daniels, Gregory A., Piccioni, David E., Fanta, Paul T., Schwab, Richard B., Shimabukuro, Kelly A., Parker, Barbara A., Kurzrock, Razelle·2015·Molecular Cancer Therapeutics
DOI 10.1158/1535-7163.mct-14-1061

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Abstract

Despite the increased use of molecular diagnostics, the extent to which patients who have these tests harbor potentially actionable aberrations is unclear. We retrospectively reviewed 439 patients with diverse cancers, for whom next-generation sequencing (mostly 236-gene panel) had been performed. Data pertaining to the molecular alterations identified, as well as associated treatment suggestions (on- or off-label, or experimental), were extracted from molecular diagnostic reports. Most patients (420/439; 96%) had at least one molecular alteration: 1,813 alterations (in 207 distinct genes) were identified [the majority being mutations (62%) or amplifications (29%)]. The three most common gene abnormalities were TP53 (44%), KRAS (16%), and PIK3CA (12%). The median number of alterations per patient was 3 (range, 0–16). Nineteen patients (4%) had no alterations; 48 patients (11%) had only one alteration; and 372 patients had two or more abnormalities (85%). The median number of potentially actionable anomalies per patient was 2 (range, 0–8). Most patients (393/439; 90%) had at least one potentially actionable alteration, and in all these cases the aberration could at least be targeted by an experimental drug in a clinical trial. A total of 307 patients (70%) had an alteration that was actionable with an approved drug, but in only 89 patients (20%) was the drug approved for their disease (on-label). Next-generation sequencing identified theoretically actionable aberrations in 90% of our patients. Many of the drugs are, however, experimental or would require off-label use. Strategies to address drug access for patients harboring potentially actionable mutations are needed. Mol Cancer Ther; 14(6); 1488–94. ©2015 AACR.

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Crossref · 10.1158/1535-7163.mct-14-1061

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Metadata

Authors
Schwaederle, M., Daniels, G. A., Piccioni, D. E., Fanta, P. T., Schwab, R. B., Shimabukuro, K. A., Parker, B. A., & Kurzrock, R.
Affiliations
University of California San Diego (US)
ORCID
Venue
Molecular Cancer Therapeutics
Publisher
American Association for Cancer Research (AACR)
Published
2015-06-01
Volume
14
Issue
6
Pages
1488-1494
ISSN
  • 1535-7163 (ISSN-L)
  • 1538-8514
DOI
10.1158/1535-7163.mct-14-1061
OpenAlex
W2097080587
Cited by
90
References
21
Citations by year
2026: 2 · 2025: 1 · 2024: 3 · 2023: 3 · 2022: 9 · 2021: 9 · 2020: 9 · 2019: 7 · 2018: 12 · 2017: 15 · 2016: 15 · 2015: 5
FWCI
5.18
Type
journal article
Language
en
Open access
closed
Locations
  • Molecular Cancer Therapeutics (publishedVersion)
  • PubMed (publishedVersion)
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
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Lung Cancer Treatments and Mutations
Keywords
precision oncology, genomic biomarkers, actionable mutations, molecular alterations, targeted therapy, off-label drug use, investigational drugs, TP53, KRAS, PIK3CA, next-generation sequencing, molecular diagnosis, access to medicines
MeSH terms
Female, Gene Amplification, Gene Frequency, Humans, Male, Middle Aged, Mutation, Neoplasms, Retrospective Studies, Biomarkers, Tumor, Genetic Predisposition to Disease, Genomics, Precision Medicine, High-Throughput Nucleotide Sequencing

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