Article
From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis.
Human mutation - 1 Jan 2026
Hu Chengguang, Yang Guang, Xiong Han, Xie Yetong, Yuan Zhao, Liu Jiani, Wang Peiying, Li Meng, Xu Jiabao, Li Qingyun, Li Chulan, Han Wenlin, Peng Xin, Zhang Li, Cai Shanshan, Zhong Fei, Dai Lin, Liu Side
Abstract excerpt
Introduction: Genome-wide association studies (GWAS) have identified over 200 germline risk loci for colorectal cancer (CRC), yet the causal variants and genes behind most GWAS signals remain unknown and the link between inherited risk and tumor outcome is largely unexplored. Connecting germline single nucleotide polymorphisms (SNPs) to gene expression through expression quantitative trait loci (eQTL) and to...
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