Esophageal Cancer in Kazakhstan: Multi-omic Research Challenges

摘要

IntroductionEsophageal cancer (EC) is the sixth most common cancer in Kazakhstan, fifth leading cause of mortality among men, and ninth leading cause of mortality among women. Advances in high-throughput sequencing over the last decade have made mapping the whole genetic variation in genome-wide scale possible. Transcriptome sequencing has become a powerful method for detecting driver mutations in cancer, since somatic point mutations as well as aberrant RNA variants, such as fusion genes and alternative splicing, can be identified. The aim of the study was to identify the genetic basis of EC by performing whole transcriptome sequencing (RNA-Seq) study in Kazakhstani patients.