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

Research output: Contribution to journalArticle

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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

Fingerprint

genome
Genome-Wide Association Study
loci
Squamous Cell Carcinoma
Genes
cancer
magnetic permeability
Skin
oncogenes
suppressors
Aryl Hydrocarbon Receptors
pathogenesis
secretions
Pigmentation
immunity
metastasis
Genetic Predisposition to Disease
Tumor Suppressor Genes
Oncogenes
determinants

ASJC Scopus subject areas

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

Cite this

Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. / Chahal, Harvind S.; Lin, Yuan; Ransohoff, Katherine J.; Hinds, David A.; Wu, Wenting; Dai, Hong Ji; Qureshi, Abrar A.; Li, Wen Qing; Kraft, Peter; Tang, Jean Y.; Han, Jiali; Sarin, Kavita Y.

In: Nature Communications, Vol. 7, 12048, 18.07.2016.

Research output: Contribution to journalArticle

Chahal, HS, Lin, Y, Ransohoff, KJ, Hinds, DA, Wu, W, Dai, HJ, Qureshi, AA, Li, WQ, Kraft, P, Tang, JY, Han, J & Sarin, KY 2016, 'Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma', Nature Communications, vol. 7, 12048. https://doi.org/10.1038/ncomms12048
Chahal, Harvind S. ; Lin, Yuan ; Ransohoff, Katherine J. ; Hinds, David A. ; Wu, Wenting ; Dai, Hong Ji ; Qureshi, Abrar A. ; Li, Wen Qing ; Kraft, Peter ; Tang, Jean Y. ; Han, Jiali ; Sarin, Kavita Y. / Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. In: Nature Communications. 2016 ; Vol. 7.
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