Chahal, Harvind S.Lin, YuanRansohoff, Katherine J.Hinds, David A.Wu, WentingDai, Hong-JiQureshi, Abrar A.Li, Wen-QingKraft, PeterTang, Jean Y.Han, JialiSarin, Kavita Y.2017-05-172017-05-172016-07-18Chahal, H. S., Lin, Y., Ransohoff, K. J., Hinds, D. A., Wu, W., Dai, H.-J., … Sarin, K. Y. (2016). Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. Nature Communications, 7, 12048. http://doi.org/10.1038/ncomms12048https://hdl.handle.net/1805/12581Cutaneous squamous cell carcinoma represents the second most common cutaneous malignancy, affecting 7-11% of Caucasians in the United States. The genetic determinants of susceptibility to cutaneous squamous cell carcinoma remain largely unknown. Here we report the results of a two-stage genome-wide association study of cutaneous squamous cell carcinoma, totalling 7,404 cases and 292,076 controls. Eleven loci reached genome-wide significance (P<5 × 10(-8)) including seven previously confirmed pigmentation-related loci: MC1R, ASIP, TYR, SLC45A2, OCA2, IRF4 and BNC2. We identify an additional four susceptibility loci: 11q23.3 CADM1, a metastasis suppressor gene involved in modifying tumour interaction with cell-mediated immunity; 2p22.3; 7p21.1 AHR, the dioxin receptor involved in anti-apoptotic pathways and melanoma progression; and 9q34.3 SEC16A, a putative oncogene with roles in secretion and cellular proliferation. These susceptibility loci provide deeper insight into the pathogenesis of squamous cell carcinoma.en-USAttribution-NonCommercial-NoDerivs 3.0 United StatesCutaneous squamous cell carcinomaGeneticsCaucasiansLociArticle