Identification of trunk mutations in gastric carcinoma: a case study

BMC Medical Genomics

Zhan Zhou¹  Shanshan Wu¹  Chixiao Qiu¹  Jie Zhou¹  Jun Lai¹  Shuqing Chen¹  Yufeng Wang²  Xun Gu³  Zhe Chen⁴  Yuan Shi⁴ 

[1] College of Pharmaceutical Sciences, Zhejiang University;Department of Biology and South Texas Center for Emerging Infectious Diseases, University of Texas at San Antonio;Department of Genetics, Development and Cell Biology, Iowa State University;Zhejiang Hospital of Traditional Chinese Medicine;

关键词: Intratumor heterogeneity;    Gastric carcinoma;    Multiregional sampling;    Cancer somatic mutation;    Cancer evolution;   

DOI  :  10.1186/s12920-017-0285-y

来源: DOAJ

【 摘 要 】

Abstract Background 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. Case presentation 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. Conclusions 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.

【 授权许可】

Unknown