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贲门癌显著的流行病学特征与食管癌流行地域分布一致[1-3],且贲门癌与食管癌有着相似的发病风险因素如营养缺乏、蔬菜水果的低摄入量等[4-5]。研究[6]发现C20orf54是贲门癌和食管癌的高易感基因。C20orf54位于常染色体20p13,共有5个外显子,编码的蛋白为核黄素转运蛋白[1,5],其主要功能是将核黄素由细胞外转入细胞内[7]。研究[8]证实核黄素缺乏与食管癌和贲门癌的发生密切相关,补充核黄素能够降低发病风险。作者采用外显子测序
The prominent epidemiological features of cardia cancer coincide with the geographical distribution of esophageal cancer [1-3], and cardia cancer and esophageal cancer have similar risk factors such as nutritional deficiencies, low intake of vegetables and fruits [4-5] . The study [6] found that C20orf54 is a high susceptibility gene for cardia and esophageal cancer. C20orf54 is located on the chromosome 20p13, which contains 5 exons. The encoded protein is riboflavin transporter [1,5]. Its main function is to transfer riboflavin into the cells from the outside of the cell [7]. Study [8] confirmed that lack of riboflavin and esophageal and cardiac cancer are closely related to the occurrence, supplementation of riboflavin can reduce the risk of onset. The authors used exon sequencing