Cancer Genomics and Diagnostics

Cancer genomics examines how mutations, chromosomal rearrangements, and instability in a tumor's DNA drive the development and progression of cancer, with the goal of translating those molecular details into better diagnosis and treatment. A central challenge is that tumors are not genetically uniform—cells within a single tumor accumulate distinct mutations over time, a phenomenon called intratumor heterogeneity, which complicates both prognosis and the design of targeted therapies. Researchers are now working to decode the patterns left by different mutational processes, reconstruct how tumors evolve clonally, and detect tumor-derived DNA circulating in the bloodstream through liquid biopsies as a less invasive window into disease. Open questions center on predicting which evolutionary trajectories lead to therapy resistance and how to monitor minimal residual disease reliably enough to guide clinical decisions in real time.

Works

97,968

Total citations

1,743,564

Keywords

Cancer GenomicsMutational SignaturesIntratumor HeterogeneityLiquid BiopsiesSomatic MutationsTumor Evolution