Title |
Identification of trunk mutations in gastric carcinoma: a case study
|
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Published in |
BMC Medical Genomics, July 2017
|
DOI | 10.1186/s12920-017-0285-y |
Pubmed ID | |
Authors |
Zhan Zhou, Shanshan Wu, Jun Lai, Yuan Shi, Chixiao Qiu, Zhe Chen, Yufeng Wang, Xun Gu, Jie Zhou, Shuqing Chen |
Abstract |
Intratumor heterogeneity (ITH) poses an urgent challenge for cancer precision medicine because it can cause drug resistance against cancer target therapy and immunotherapy. The search for trunk mutations that are present in all cancer cells is therefore critical for each patient. In this study, we aimed to evaluate the efficiency of multiregional sequencing for the identification of trunk mutations present in all regions of a tumor as a case study. We applied multiregional whole-exome sequencing (WES) to investigate the genetic heterogeneity and homogeneity of a case of gastric carcinoma. Approximately 83% of common missense mutations present in two samples and approximately 89% of common missense mutations present in three samples were trunk mutations. Notably, trunk mutations appeared to have higher variant allele frequencies (VAFs) than non-trunk mutations. Our results indicate that small-scale multiregional sampling and subsequent screening of low VAF somatic mutations might be a cost-effective strategy for identifying the majority of trunk mutations in gastric carcinoma. |
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Geographical breakdown
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Montenegro | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 19 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 4 | 21% |
Researcher | 4 | 21% |
Student > Postgraduate | 2 | 11% |
Professor | 1 | 5% |
Other | 1 | 5% |
Other | 2 | 11% |
Unknown | 5 | 26% |
Readers by discipline | Count | As % |
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Pharmacology, Toxicology and Pharmaceutical Science | 3 | 16% |
Medicine and Dentistry | 3 | 16% |
Agricultural and Biological Sciences | 3 | 16% |
Economics, Econometrics and Finance | 3 | 16% |
Biochemistry, Genetics and Molecular Biology | 1 | 5% |
Other | 1 | 5% |
Unknown | 5 | 26% |