Somatic Mutations in Cancer-Free Individuals: A Liquid Biopsy Connection
Journal Title: Open Access Journal of Oncology and Medicine - Year 2018, Vol 1, Issue 1
Abstract
Somatic mutations have been perceived as the causal event in the origin of the vast majority of cancers. Advanced massively parallel, highthroughput DNA sequencing have enabled the comprehensive characterization of somatic mutations in a large number of tumor samples for precision and personalized therapy. Understanding how these observed genetic alterations give rise to specific cancer phenotypes represents an ultimate goal of cancer genomics. However, somatic mutations are also commonly found in healthy individuals, which interfere with the effectiveness for cancer diagnostics. Over the course of our lifetime, there are many millions of cell divisions in the body. By chance alone, mutations will definitely occur. Indeed, spontaneous somatic mutations constantly occur in individual cells. These background mutations arise either from replication errors or from DNA damage that is repaired incorrectly or left unrepaired, and have been detected in healthy tissues, including blood, skin, liver, colon, and small intestine [1-3]. Deepsequencing studies in normal tissues also surprisingly identified cancer-driving mutations, e.g., in blood, driver mutations can be detected in ~10%of individuals older than 65 years of age and resemble patterns seen in leukemia patients. Individuals carrying these driver mutations have an elevated future risk of blood cancers [4-6], suggesting that these are genuine precancerous clones. Further, a detailed analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies revealed that the majority, if not all, of aberrations that were observed in the cancer-associated cohort were also seen in cancer-free subjects, albeit at lower frequency [7,8].
Authors and Affiliations
Andrew Ford, Charmaine Brown, Chen Hsiung Yeh
Keywords
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- EP ID EP581528
- DOI 10.32474/OAJOM.2018.01.000101
- Views 94
- Downloads 0
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