Publication: Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma
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Date
2016
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Nature Publishing Group
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Chahal, H. S., Y. Lin, K. J. Ransohoff, D. A. Hinds, W. Wu, H. Dai, A. A. Qureshi, et al. 2016. “Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.” Nature Communications 7 (1): 12048. doi:10.1038/ncomms12048. http://dx.doi.org/10.1038/ncomms12048.
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Abstract
Cutaneous 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.
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