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.

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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