Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma

Harvind S. Chahal, Yuan Lin, Katherine J. Ransohoff, David A. Hinds, Wenting Wu, Hong Ji Dai, Abrar A. Qureshi, Wen Qing Li, Peter Kraft, Jean Y. Tang, Jiali Han, Kavita Y. Sarin

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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.

Original languageEnglish (US)
Article number12048
JournalNature communications
Volume7
DOIs
StatePublished - Jul 18 2016

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ASJC Scopus subject areas

  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Physics and Astronomy(all)

Cite this

Chahal, H. S., Lin, Y., Ransohoff, K. J., Hinds, D. A., Wu, W., Dai, H. J., Qureshi, A. A., Li, W. Q., Kraft, P., Tang, J. Y., Han, J., & Sarin, K. Y. (2016). Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. Nature communications, 7, [12048]. https://doi.org/10.1038/ncomms12048