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Intramucosal Inoculation of Squamous Cell Carcinoma Cells in Mice for Tumor Immune Profiling and Treatment Response Assessment
Published on: April 22, 2019
DNA Damage Response Gene Signature as Potential Treatment Markers for Oral Squamous Cell Carcinoma
Silvia Pomella1,2, Matteo Cassandri2,3, Ombretta Melaiu1,2
1Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Via Montpellier, 00133 Rome, Italy.
Abstract:
Oral squamous cell carcinoma (OSCC) is a rapidly progressive cancer that often develops resistance against DNA damage inducers, such as radiotherapy and chemotherapy, which are still the standard of care regimens for this tumor. Thus, the identification of biomarkers capable of monitoring the clinical progression of OSCC and its responsiveness to therapy is strongly required. To meet this need, here we have employed Whole Genome Sequencing and RNA-seq data from a cohort of 316 patients retrieved from the TCGA Pan-Cancer Atlas to analyze the genomic and transcriptomic status of the DNA damage response (DDR) genes in OSCC. Then, we correlated the transcriptomic data with the clinical parameters of each patient. Finally, we relied on transcriptomic and drug sensitivity data from the CTRP v2 portal, performing Pearson's correlation analysis to identify putative vulnerabilities of OSCC cell lines correlated with DDR gene expression. Our results indicate that several DDR genes show a high frequency of genomic and transcriptomic alterations and that the expression of some of them correlates with OSCC grading and infection by the human papilloma virus. In addition, we have identified a signature of eight DDR genes (namely CCNB1, CCNB2, CDK2, CDK4, CHECK1, E2F1, FANCD2, and PRKDC) that could be predictive for OSCC response to the novel antitumor compounds sorafenib and tipifarnib-P1. Altogether, our data demonstrate that alterations in DDR genes could have an impact on the biology of OSCC. Moreover, here we propose a DDR gene signature whose expression could be predictive of OSCC responsiveness to therapy.
Insights
Oral squamous cell carcinoma (OSCC) resistance to therapy necessitates new biomarkers. This study identifies a DNA damage response (DDR) gene signature predicting OSCC patient response to novel antitumor compounds, offering therapeutic insights.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Oral squamous cell carcinoma (OSCC) often develops resistance to standard radiotherapy and chemotherapy.
- There is a critical need for biomarkers to monitor OSCC progression and treatment response.
Purpose of the Study:
- To analyze genomic and transcriptomic alterations in DNA damage response (DDR) genes in OSCC.
- To correlate DDR gene expression with clinical parameters and identify potential therapeutic vulnerabilities.
- To discover a DDR gene signature predictive of OSCC response to specific antitumor agents.
Main Methods:
- Whole Genome Sequencing and RNA-seq analysis of 316 OSCC patient samples from TCGA Pan-Cancer Atlas.
- Correlation of transcriptomic data with clinical parameters.
- Pearson's correlation analysis using CTRP v2 portal data for drug sensitivity and DDR gene expression.
Main Results:
- A high frequency of genomic and transcriptomic alterations was observed in DDR genes.
- DDR gene expression correlated with OSCC grading and human papilloma virus infection.
- An eight-gene DDR signature (CCNB1, CCNB2, CDK2, CDK4, CHECK1, E2F1, FANCD2, PRKDC) was identified as potentially predictive of response to sorafenib and tipifarnib-P1.
Conclusions:
- Alterations in DDR genes significantly impact OSCC biology.
- The proposed DDR gene signature shows promise for predicting OSCC patient responsiveness to targeted therapies.
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