Cancer Genomics and Diagnostics

Cancer genomics examines the somatic mutations, chromosomal rearrangements, and patterns of genomic instability that accumulate in tumor cells, aiming to decode how a normal cell transforms into a malignancy and how that malignancy changes over time. Because tumors are not genetically uniform—different cells within a single tumor can carry distinct mutations, a phenomenon called intratumor heterogeneity—tracking their evolution poses a serious challenge for both diagnosis and treatment. Liquid biopsies, which detect cell-free tumor DNA circulating in blood, have opened a way to monitor this evolution non-invasively and in real time, without repeated surgical sampling. Active research is now focused on understanding which mutational signatures predict response to targeted therapies, and on determining how clonal populations shift under treatment pressure to drive resistance.

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Keywords

Cancer GenomicsMutational SignaturesIntratumor HeterogeneityLiquid BiopsiesSomatic MutationsTumor Evolution