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J Invest Dermatol. 2016 May;136(5):930-7. doi: 10.1016/j.jid.2016.01.013. Epub 2016 Jan 29.

Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

Author information

1
Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts, USA; Division of Research, Kaiser Permanente Northern California, Oakland, California, USA.
2
Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA.
3
Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
4
Department of Epidemiology and Biostatistics and Institute for Human Genetics, University of California, San Francisco, California, USA.
5
Division of Research, Kaiser Permanente Northern California, Oakland, California, USA.
6
Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA. Electronic address: alicesw@stanford.edu.

Abstract

We report a genome-wide association study of cutaneous squamous cell carcinoma conducted among non-Hispanic white members of the Kaiser Permanente Northern California health care system. The study includes a genome-wide screen of 61,457 members (6,891 cases and 54,566 controls) genotyped on the Affymetrix Axiom European array and a replication phase involving an independent set of 6,410 additional members (810 cases and 5,600 controls). Combined analysis of screening and replication phases identified 10 loci containing single-nucleotide polymorphisms (SNPs) with P-values < 5 × 10(-8). Six loci contain genes in the pigmentation pathway; SNPs at these loci appear to modulate squamous cell carcinoma risk independently of the pigmentation phenotypes. Another locus contains HLA class II genes studied in relation to elevated squamous cell carcinoma risk following immunosuppression. SNPs at the remaining three loci include an intronic SNP in FOXP1 at locus 3p13, an intergenic SNP at 3q28 near TP63, and an intergenic SNP at 9p22 near BNC2. These findings provide insights into the genetic factors accounting for inherited squamous cell carcinoma susceptibility.

PMID:
26829030
PMCID:
PMC4842155
DOI:
10.1016/j.jid.2016.01.013
[Indexed for MEDLINE]
Free PMC Article

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