Gene Mutation Classification through Text Evidence Facilitating Cancer Tumour Detection

Abstract

A cancer tumour consists of thousands of genetic mutations. Even after advancement in technology, the task of distinguishing genetic mutations, which act as driver for the growth of tumour with passengers (Neutral Genetic Mutations), is still being done manually. This is a time-consuming process where pathologists interpret every genetic mutation from the clinical evidence manually. These clinical shreds of evidence belong to a total of nine classes, but the criterion of classification is still unknown. The main aim of this research is to propose a multiclass classifier to classify the genetic mutations based on clinical evidence (i.e., the text description of these genetic mutations) using Natural Language Processing (NLP) techniques. The dataset for this research is taken from Kaggle and is provided by the Memorial Sloan Kettering Cancer Center (MSKCC). The world-class researchers and oncologists contribute the dataset. Three text transformation models, namely, CountVectorizer, TfidfVectorizer, and Word2Vec, are utilized for the conversion of text to a matrix of token counts. Three machine learning classification models, namely, Logistic Regression (LR), Random Forest (RF), and XGBoost (XGB), along with the Recurrent Neural Network (RNN) model of deep learning, are applied to the sparse matrix (keywords count representation) of text descriptions. The accuracy score of all the proposed classifiers is evaluated by using the confusion matrix. Finally, the empirical results show that the RNN model of deep learning has performed better than other proposed classifiers with the highest accuracy of 70%.