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Cumulative evidence for associations between genetic variants and risk of esophageal cancer

Cancer Epidemiology, Biomarkers & Prevention Mar 05, 2020

Li G, Song Q, Jiang Y, et al. - A summary of the current knowledge of the genetic architecture of esophageal cancer susceptibility was afforded by performing a comprehensive field synopsis and meta-analysis. Researchers analyzed data from 104,904 cases and 159,797 controls included in 304 eligible publications, to assess links between 95 variants in 70 genes or loci and esophageal cancer risk. They identified that 30 variants were nominally significantly related to esophageal cancer risk. For 13 variants in or near 13 genes (ADH1B, BARX1, CDKN1A, CHEK2, CLPTM1L, CRTC1, CYP1A1, EGF, LTA, MIR34BC, PLCE1, PTEN, and PTGS2), a strong cumulative epidemiologic proof of a significant link with overall esophageal cancer, esophageal squamous cell carcinoma, or esophageal adenocarcinoma was obtained. In bioinformatics analysis, it was indicated that these variants and others demonstrating a correlation with them might fall in putative functional regions. This work reveals many potential polymorphisms that could be implicated in esophageal cancer susceptibility.
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