DiaDeL: An Accurate Deep Learning-Based Model With Mutational Signatures for Predicting Metastasis Stage and Cancer Types

Mutational signatures help identify cancer-associated genes that are being involved in tumorigenesis pathways. Hence, these pathways guide precision medicine approaches to find appropriate drugs and treatments. The pattern of mutations varies in different cancer types. Some mutations dysregulate protein function so that their accumulation is responsible for cancer development and might be associated with different cancer types. Therefore, mutations as a feature set can be used as an informative candidate to distinguish various cancer types. There are several options for demonstrating mutations. One might employ binary values to demonstrate mutation regions. Another potential method for extracting features is utilizing mutation interpreters. In this study, we investigate the trinucleotide mutational pattern of each cancer type. Moreover, we extract salient NMF-based mutational signatures across various cancer types. Then, we identify cancer-associated genes of a target cancer based on its salient signatures. We evaluate the cancer-associated genes using survival and gene expression analysis in different stages of cancer. Furthermore, we introduce DiaDeL, which is a deep learning-based binary classifier. The DiaDeL model uses mutational signatures as input features and distinct a cancer type from the others. Our proposed model outperforms six state-of-the-art methods with 0.824 and 0.88 for accuracy and AUC, respectively. The source code is available at https://github.com/sabdollahi/DiaDeL.