Establishment of Molecular Classification Models for Early Diagnosis of Digestive System Cancers

This is a single blind, case control, multicenter study jointly developed by Zhongshan Hospital of Fudan University, Shanghai Public Health Clinical Center, Shanghai Xuhui Central Hospital, Qingpu Branch of Zhongshan Hospital Affiliated to Fudan University, and Shanghai Singlera Genomics Company. The enrolled population will include positive group, precancerous lesions and healthy control group, which is expected to enroll 2,430 participants. The primary objective is to establish molecular testing methods for non-invasive screening and early diagnosis of digestive system cancers through ctDNA methylation and mutation, cfDNA and ctDNA fragment size, and end motif based model (for esophageal, gastric, colorectal cancer), and through ctDNA methylation detection, ctDNA low-pass WGS, miRNA7 and CTC detection and analysis technology based model (for hepatocellular carcinoma). The sensitivity and specificity of the models in cancer early detection will be evaluated.本研究为一项单盲、病例对照多中心研究，由复旦大学附属中山医院、上海市公共卫生临床中心、上海市徐汇区中心医院、复旦大学附属中山医院青浦分院与上海Singlera Genomics公司联合开展。本次研究的招募人群分为阳性病例组、癌前病变组与健康对照组，计划招募2430名受试者。本研究的主要目标是建立消化系统癌症无创筛查与早期诊断的分子检测方法：针对食管癌、胃癌、结直肠癌，采用基于循环肿瘤DNA（ctDNA）甲基化与突变、游离DNA（cfDNA）及ctDNA片段长度、末端基序的建模分析方案；针对肝细胞癌，采用基于ctDNA甲基化检测、ctDNA低覆盖度全基因组测序（low-pass WGS）、微RNA7（miRNA7）与循环肿瘤细胞（CTC）检测分析技术的建模分析方案。本研究将评估上述模型在癌症早期检测中的灵敏度与特异度。