GNNMutation: a heterogeneous graph-based framework for cancer detection.
Journal:
BMC bioinformatics
Published Date:
Jun 4, 2025
Abstract
BACKGROUND: When genes are translated into proteins, mutations in the gene sequence can lead to changes in protein structure and function as well as in the interactions between proteins. These changes can disrupt cell function and contribute to the development of tumors. In this study, we introduce a novel approach based on graph neural networks that jointly considers genetic mutations and protein interactions for cancer prediction. We use DNA mutations in whole exome sequencing data and construct a heterogeneous graph in which patients and proteins are represented as nodes and protein-protein interactions as edges. Furthermore, patient nodes are connected to protein nodes based on mutations in the patient's DNA. Each patient node is represented by a feature vector derived from the mutations in specific genes. The feature values are calculated using a weighting scheme inspired by information retrieval, where whole genomes are treated as documents and mutations as words within these documents. The weighting of each gene, determined by its mutations, reflects its contribution to disease development. The patient nodes are updated by both mutations and protein interactions within our noval heterogeneous graph structure. Since the effects of each mutation on disease development are different, we processed the input graph with attention-based graph neural networks.