Background. Recently, comprehensive genomewide studies that identified specific genetic variants in large-scale surveys successfully provided information about gastrointestinal (GI) cancer susceptibility. Methods. We reviewed literature from the last 5 years about the usefulness and updated status of genetic variants, and we noted the implications of large-scale genomewide studies for GI cancer. Results. Comprehensive variant study with large samples has provided information about the genetic variation associated with GI cancer from the difference of observed frequency. This finding has proved to be reproducible regardless of the subject's race or the research method used. Analysis of known or unknown genes near variant loci from statistically significant sites of observed frequency difference could produce important insights into cancer biology. Conclusions. Genetic variant study of large samples will provide many instructive insights into the carcinogenesis, tumor progression, and treatment of GI cancer.
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