PMC:4385186 / 40827-42554 JSONTXT

{"project":"2_test","denotations":[{"id":"25839328-24670651-2052622","span":{"begin":333,"end":334},"obj":"24670651"},{"id":"25839328-24686850-2052623","span":{"begin":1033,"end":1034},"obj":"24686850"},{"id":"25839328-25151357-2052624","span":{"begin":1049,"end":1051},"obj":"25151357"},{"id":"25839328-23374478-2052625","span":{"begin":1542,"end":1543},"obj":"23374478"},{"id":"25839328-13130116-2052625","span":{"begin":1542,"end":1543},"obj":"13130116"}],"text":"Our previously published paper identified TP53, RB1, CDKN2A, PIK3CA, NOTCH1, NFE2L2 (MIM 600492), ADAM29 (MIM 604778), and FAM135B as SMGs on the basis of the dataset of WGS in 17 ESCC individuals and WES in 71 individuals recruited from the Chaoshan District of Guangdong Province, an area of high ESCC prevalence in southern China.6 In this study, in addition to identifying TP53, PIK3CA, NOTCH1, and CDKN2A, which have been implicated previously, we further identified FBXW7, FAT1, AJUBA, and ZNF750 as SMGs from the dataset of WGS in 14 ESCC individuals and WES in 90 individuals recruited from Shanxi and Henan provinces in the Taihang Mountains, an area of high ESCC prevalence in northern China. When we combined these two cohorts, we identified more SMGs, including PTCH1 and the chromatin-remodeling genes CREBBP and BAP1. Of these SMGs, AJUBA, ZNF750, FAT1, and FBXW7 were identified in ESCC individuals recruited from northern China, but not in those from southern China, which was confirmed in the cohorts from Lin et al.7 and Gao et al.37 (individuals in their cohorts were from the Cancer Institute and Hospital of the Chinese Academy of Medical Sciences, where individuals are mostly from northern China). Epidemiologic studies have shown that in addition to smoking, alcohol consumption, and family history, the known risk factors for ESCC were thought to be hot food and N-nitroso compounds in northern China, whereas chewing of fermented areca nut has been shown to be independently associated with ESCC in southern China.1,2 We speculate that the different environmental carcinogens (e.g., dietary and lifestyle patterns) between northern and southern China might cause genetic diversity in ESCC individuals."}