MINI REVIEW article
Front. Oncol.
Sec. Cancer Genetics
Emerging Role of Low-Frequency Somatic Mutations in Cancer Relapse: From Early Detection to Precision Oncology
Provisionally accepted- 1College of Medicine, Gyeongsang National University, Jinju, Republic of Korea
- 2Department of Anatomy, College of Medicine, Metabolic dysfunction liver disease Research Center, Institute of Medical Science, Gyeongsang National University, Jinju, Republic of Korea
- 3Department of Anatomy and Convergence Medical Science, College of Medicine, Institute of Medical Science, Gyeongsang National University, Jinju, Republic of Korea
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Somatic mutations with low variant allele frequencies offer a highly sensitive lens for detecting cancer relapse driven by diverse causes, including clonal evolution and therapy resistance. Advances in next-generation sequencing have enabled robust subclonal variant identification that typically fall below conventional detection limits, supporting a comprehensive understanding of individual molecular profiles that can lead to relapse. These low-level alterations frequently emerge before clinical or radiological relapse and can inform response-adaptive treatment decisions. This review integrates the current biological and technical insights into low-frequency mutations and evaluates their emerging roles in tumor relapse management and precision oncology.
Keywords: cancer relapse, low-VAF, Next-generation sequencing, somatic mutation, Ultra-deep sequencing
Received: 21 Dec 2025; Accepted: 02 Feb 2026.
Copyright: © 2026 Kim, Roh and Kwon. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Seong Gyu Kwon
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