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Amr Eledkawy1, Taher Hamza1, Sara El-Metwally2,3

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This study introduces a novel liquid biopsy method for early cancer detection using plasma cell-free DNA (cfDNA) and protein biomarkers. The system achieves high accuracy in detecting cancer presence and classifying cancer types, improving patient outcomes.

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Area of Science:

  • Oncology
  • Biotechnology
  • Bioinformatics

Background:

  • Cancer poses a significant global health challenge, underscoring the need for early detection methods.
  • Liquid biopsy, analyzing circulating cell-free DNA (cfDNA/ctDNA) and biomarkers, offers a promising avenue for non-invasive cancer diagnosis.
  • Timely cancer detection is crucial for improving patient survival rates and enabling effective treatment.

Purpose of the Study:

  • To develop and validate a machine learning system for early cancer detection and classification using plasma cfDNA/ctDNA mutations and protein biomarkers.
  • To enhance the efficiency and accuracy of cancer detection by employing advanced feature selection and classification techniques.

Main Methods:

  • Utilized correlation coefficient and mutual information for feature selection, reducing data dimensionality by 60% using XGBoost feature importance.
  • Employed Light Gradient Boosting Machine (LGBM) for classification, optimizing hyperparameters via random search.
  • Ensembled tenfold cross-validated LGBM models, weighted by balanced accuracy, for final predictions.

Main Results:

  • Achieved 99.45% accuracy and 99.95% AUC for cancer presence detection.
  • Attained 93.94% accuracy and 97.81% AUC for cancer-type classification.
  • Demonstrated a significant reduction in dataset dimensionality while maintaining high predictive performance.

Conclusions:

  • The proposed liquid biopsy system demonstrates high efficacy in early cancer detection and classification.
  • This methodology holds potential for improving patient outcomes through timely and accurate cancer diagnosis.
  • The integration of cfDNA/ctDNA analysis and protein biomarkers offers a powerful tool in the fight against cancer.