A review and comparative study of cancer detection using machine learning: SBERT and SimCSE application

BACKGROUND: Using visual, biological, and electronic health records data as the sole input source, pretrained convolutional neural networks and conventional machine learning methods have been heavily employed for the identification of various malignancies. Initially, a series of preprocessing steps and image segmentation steps are performed to extract region of interest features from noisy features. Then, the extracted features are applied to several machine learning and deep learning methods for the detection of cancer. METHODS: In this work, a review of all the methods that have been applied to develop machine learning algorithms that detect cancer is provided. With more than 100 types of cancer, this study only examines research on the four most common and prevalent cancers worldwide: lung, breast, prostate, and colorectal cancer. Next, by using state-of-the-art sentence transformers namely: SBERT (2019) and the unsupervised SimCSE (2021), this study proposes a new methodology for detecting cancer. This method requires raw DNA sequences of matched tumor/normal pair as the only input. The learnt DNA representations retrieved from SBERT and SimCSE will then be sent to machine learning algorithms (XGBoost, Random Forest, LightGBM, and CNNs) for classification. As far as we are aware, SBERT and SimCSE transformers have not been applied to represent DNA sequences in cancer detection settings. RESULTS: The XGBoost model, which had the highest overall accuracy of 73 ± 0.13 % using SBERT embeddings and 75 ± 0.12 % using SimCSE embeddings, was the best performing classifier. In light of these findings, it can be concluded that incorporating sentence representations from SimCSE’s sentence transformer only marginally improved the performance of machine learning models. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-023-05235-x.