Molecular diagnostics in clinical oncology: an overview

• Published in: Exploration of medicine Vol. 6; p. 1001346
• Main Authors: Imyanitov, Evgeny, Sokolenko, Anna
• Format: Journal Article
• Language: English
• Published: Open Exploration Publishing Inc 17.07.2025
• Subjects: actionable mutation; molecular diagnostics; targeted therapy
• ISSN: 2692-3106; 2692-3106
• DOI: 10.37349/emed.2025.1001346

Molecular diagnostics has become an integral part of modern clinical oncology. There are several dozen hereditary cancer syndromes; the detection of germline pathogenic variants in tumor-predisposing genes allows for the identification of subjects at-risk as well as guides the administration of cytotoxic and targeted drugs. The development of predictive tests for personalized drug-target matching is the best-known achievement of molecular oncology. For the time being, these assays are routinely utilized for the management of lung, breast, ovarian, colorectal, thyroid, biliary tract, endometrial, urothelial, and other malignancies. We are currently witnessing the emergence of practical applications of liquid biopsy. The detection of circulating tumor DNA (ctDNA) is a highly sensitive and specific procedure, which is currently used for the detection of secondary drug-resistant mutations, and holds great promise for the monitoring of malignant disease in oncological patients and early cancer detection in healthy individuals. While the utilization of molecular tests is currently limited to particular categories of cancer patients, their use is likely to become significantly more widespread in the near future. This trend will affect educational standards, requiring practicing physicians to become more familiar with molecular biology, and, vice versa, claiming some fluency in clinical oncology from laboratory specialists.