Enzymatic Methods for Mutation Detection in Cancer Samples and Liquid Biopsies

Low-level tumor somatic DNA mutations in tissue and liquid biopsies obtained from cancer patients can have profound implications for development of metastasis, prognosis, choice of treatment, follow-up, or early cancer detection. Unless detected, such low-frequency DNA alterations can misinform patient management decisions or become missed opportunities for personalized medicine. Next-generation sequencing technologies and digital-PCR can resolve low-level mutations but require access to specialized instrumentation, time, and resources. Enzymatic-based approaches to detection of low-level mutations provide a simple, straightforward, and affordable alternative to enrich and detect such alterations and is broadly available to low-resource laboratory settings. This review summarizes the traditional uses of enzymatic mutation detection and describes the latest exciting developments, potential, and applications with specific reference to the field of liquid biopsy in cancer.

Automated summary

Low-level tumor somatic DNA mutations in tissue and liquid biopsies have implications for metastasis, prognosis, treatment, follow-up, and early cancer detection. Next-generation sequencing and digital-PCR can detect these mutations but require specialized instrumentation, time, and resources. Enzymatic-based mutation detection provides a simple, affordable alternative for low-resource laboratories. This review discusses the traditional uses of enzymatic mutation detection and its potential applications in liquid biopsy for cancer.