Cancer Therapy Guided by Mutation Tests: Current Status and Perspectives
Open accessAbstract
The administration of many cancer drugs is tailored to genetic tests. Some genomic events, e.g., alterations of EGFR or BRAF oncogenes, result in the conformational change of the corresponding proteins and call for the use of mutation-specific compounds. Other genetic perturbations, e.g., HER2 amplifications, ALK translocations or MET exon 14 skipping mutations, cause overproduction of the entire protein or its kinase domain. There are multilocus assays that provide integrative characteristics of the tumor genome, such as the analysis of tumor mutation burden or deficiency of DNA repair. Treatment planning for non-small cell lung cancer requires testing for EGFR, ALK, ROS1, BRAF, MET, RET and KRAS gene alterations. Colorectal cancer patients need to undergo KRAS, NRAS, BRAF, HER2 and microsatellite instability analysis. The genomic examination of breast cancer includes testing for HER2 amplification and PIK3CA activation. Melanomas are currently subjected to BRAF and, in some instances, KIT genetic analysis. Predictive DNA assays have also been developed for thyroid cancers, cholangiocarcinomas and urinary bladder tumors. There is an increasing utilization of agnostic testing which involves the analysis of all potentially actionable genes across all tumor types. The invention of genomically tailored treatment has resulted in a spectacular improvement in disease outcomes for a significant portion of cancer patients.
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The SCORPIO model predicts immunotherapy outcomes using only routine laboratory panels and basic clinical variables.
“Another example is the SCORPIO (Standard Clinical and labOratory featuRes for Prognostication of Immunotherapy Outcomes) model, which predicts immunotherapy outcomes using only routine laboratory panels (complete blood counts and metabolic profiles) and basic clinical variables [83].”
From Artificial Intelligence in Clinical Oncology: From Productivity Enhancement to Creative Discovery (2025) · cites this paper as [83]
SCORPIO was developed on an institutional cohort (n≈1600) and validated across internal sets (n≈2500), multicenter phase-3 trials (n≈4400), and an external real-world cohort (n≈1100), covering nearly 10,000 ICI-treated patients across more than 20 cancer types.
“Developed on an institutional cohort (n ≈ 1600) and validated across internal sets (n ≈ 2500), multicenter phase-3 trials (n ≈ 4400), and an external real-world cohort (n ≈ 1100), the SCORPIO model covers nearly 10,000 immune checkpoint inhibitors (ICI)-treated patients across more than 20 types of cancers.”
From Artificial Intelligence in Clinical Oncology: From Productivity Enhancement to Creative Discovery (2025) · cites this paper as [83]
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References 131 · Cited by 41
- Authors
- Aleksakhina, S. N., & Imyanitov, E. N.
- Affiliations
- Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, 197758 Saint-Petersburg, Russia
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2021-10-10
- Volume
- 22
- Issue
- 20
- Pages
- 10931
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC8536080
- OpenAlex
- W3206043227
- Cited by
- 41
- References
- 131
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 7 · 2023: 12 · 2022: 11 · 2021: 1
- FWCI
- 0.93
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Ministry of Science and Higher Education of the Russian Federation (075-15-2020-789)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Lung Cancer Treatments and Mutations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- targeted cancer therapy, predictive genetic testing, actionable mutations, EGFR, BRAF, HER2, anaplastic lymphoma kinase, MET exon 14 skipping, tumor mutational burden, DNA repair deficiency, non-small cell lung cancer, colorectal cancer, breast cancer, melanoma, PIK3CA
- MeSH terms
- Antineoplastic Agents, DNA Repair, Genetic Testing, Humans, Mutation, Neoplasms, Proto-Oncogene Proteins p21(ras), Proto-Oncogene Proteins B-raf, ErbB Receptors
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