Article
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Nature communications - 2 May 2017
Fang Jun, Jia Jinping, Makowski Matthew, Xu Mai, Wang Zhaoming, Zhang Tongwu, Hoskins Jason W, Choi Jiyeon, Han Younghun, Zhang Mingfeng, Thomas Janelle, Kovacs Michael, Collins Irene, Dzyadyk Marta, Thompson Abbey, O'Neill Maura, Das Sudipto, Lan Qi, Koster Roelof, Stolzenberg-Solomon Rachael S, Kraft Peter, Wolpin Brian M, Jansen Pascal W T C, Olson Sara, McGlynn Katherine A, Kanetsky Peter A, Chatterjee Nilanjan, Barrett Jennifer H, Dunning Alison M, Taylor John C, Newton-Bishop Julia A, Bishop D Timothy, Andresson Thorkell, Petersen Gloria M, Amos Christopher I, Iles Mark M, Nathanson Katherine L, Landi Maria Teresa, Vermeulen Michiel, Brown Kevin M, Amundadottir Laufey T
Abstract excerpt
Genome wide association studies (GWAS) have mapped multiple independent cancer susceptibility loci to chr5p15.33. Here, we show that fine-mapping of pancreatic and testicular cancer GWAS within one of these loci (Region 2 in CLPTM1L) focuses the signal to nine highly correlated SNPs. Of these, rs36115365-C associated with increased pancreatic and testicular but decreased lung cancer and melanoma risk, and...
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