Journal of Health & Medical Informatics

Extraction of Genetic Mutations Associated with Cancer from Public Literature

Abstract

Martin Schenck,Oliver Politz,Philip Groth*

Genomic mutations may result in severe diseases, e.g. cancer, a disease with a significant genetic component. The mutation state of cancer tissues is e.g. being determined experimentally in order to find the most likely response to a drug treatment. Results of such experiments are typically published in scientific literature. We have developed a workflow of several text-mining algorithms, in order to harvest this wealth of information relevant to developing novel therapeutic approaches in cancer. Our workflow has successfully scanned over 150,000 abstracts related to cancer and genetic mutations. New information on mutated genes in cancer could be extracted with a precision and recall of 86.8% and 30.3%, respectively. By applying the workflow, novel associations of mutations in specific cancer tissues could be extracted for 264 genes.