| Genomic feature | Definition | Methods | Tumor types | Drugs |
|---|---|---|---|---|
| MSI | Accumulation of mutations in microsatellite repeats as a result of mismatch repair deficiency | PCR (BAT25, BAT26, NR21, NR24, NR27)IHC for MMR proteinsNGS (whole-genome, whole-exome, targeted panels) | Colorectal, endometrial, pancreatic, biliary, and urothelial cancers | Immune checkpoint inhibitors (pembrolizumab, nivolumab, etc.) |
| TMB | Total number of somatic mutations; TMB-high refers to more than 10 mutations per megabase | NGS (whole-genome, whole-exome, targeted panels) | Carcinogen-related cancers (smoking-induced lung cancer, ultraviolet-associated skin melanoma), POLE-, POLD1-, or MUTYH-associated cancers | Immune checkpoint inhibitors (pembrolizumab, nivolumab, etc.) |
| HRD | Failure to repair DNA double-strand breaks using homologous recombination | Analysis of germline and somatic mutations in HR genesAnalysis of complex genomic rearrangements and genomic instability scores (HRD score, HRDetect, CHORD)Functional assays (RAD51 foci analysis) | High-grade serous ovarian carcinomas, triple-negative breast carcinomas, pancreatic cancer, prostate cancer | DNA-damaging cytotoxic drugs (platinum, mitomycin C, cyclophosphamide, doxorubicin, etc.), PARP inhibitors (olaparib, rucaparib, niraparib, talazoparib) |
HRD: homologous recombination deficiency; IHC: immunohistochemistry; MSI: microsatellite instability; NGS: next-generation sequencing; PCR: polymerase chain reaction; TMB: tumor mutation burden
EI: Conceptualization, Writing—original draft, Writing—review & editing. AS: Writing—review & editing. Both authors read and approved the submitted version.
Evgeny Imyanitov who is the Guest Editor of Exploration of Medicine had no involvement in the decision-making or the review process of this manuscript. The other author declares that there are no conflicts of interest.
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This work was supported by the Russian Science Foundation [21-75-30015]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
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