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Use of Somatic Mutation Detection Methods in Cancer

Yang Yang, Tingting Qu, Shuqin Jia

Laboratory of Surgery, The Affiliated Hospital, Inner Mongolia Medical University, Hohhot, Inner Mongolia, China (mainland)

Med Sci Rev 2016; 3:119-126

DOI: 10.12659/MSRev.902012

Available online:

Published: 2016-12-20

ABSTRACT: Somatic mutation theory states that somatic mutation is probably associated with the nature of cancer, which emphasizes the importance of somatic mutation in cancer occurrence. In recent years, several new detection techniques have been widely utilized to explore the somatic mutation, and this accumulated evidence has increasingly clarified the role of somatic mutation in mediating cancer occurrence. Here, we summarize several common techniques used for the detection of somatic mutations, including Direct Sequencing, Next-Generation Sequencing, PCR-SSCP, MRD, and MLPA. The practical applications of these detection methods in diverse cancer types were also introduced to further analyze both the advantages and the defects of each detection method in different types of mutation detection, which not only reveals the significance of somatic mutation detection methods in cancer prediction, diagnosis, and treatment, but also provides more suggestions for future research in these related fields.

Keywords: Early Detection of Cancer, genetic therapy, Technology