Precision cancer classification using liquid biopsy and advanced machine learning techniques

Abstract Cancer presents a significant global health burden, resulting in millions of annual deaths. Timely detection is critical for improving survival rates, offering a crucial window for timely medical interventions. Liquid biopsy, analyzing genetic variations, and mutations in circulating cell-free, circulating tumor DNA (cfDNA/ctDNA) or molecular biomarkers, has emerged as a tool for early detection. This study focuses on cancer detection using mutations in plasma cfDNA/ctDNA and protein biomarker concentrations. The proposed system initially calculates the correlation coefficient to identify correlated features, while mutual information assesses each feature's relevance to the target variable, eliminating redundant features to improve efficiency. The eXtrem Gradient Boosting (XGBoost) feature importance method iteratively selects the top ten features, resulting in a 60% dataset dimensionality reduction. The Light Gradient Boosting Machine (LGBM) model is employed for classification, optimizing its performance through a random search for hyper-parameters. Final predictions are obtained by ensembling LGBM models from tenfold cross-validation, weighted by their respective balanced accuracy, and averaged to get final predictions. Applying this methodology, the proposed system achieves 99.45% accuracy and 99.95% AUC for detecting the presence of cancer while achieving 93.94% accuracy and 97.81% AUC for cancer-type classification. Our methodology leads to enhanced healthcare outcomes for cancer patients.