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Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma

Author

Listed:
  • Kavita Y. Sarin

    (Stanford University School of Medicine)

  • Yuan Lin

    (Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 1050 Wishard Blvd)

  • Roxana Daneshjou

    (Stanford University School of Medicine)

  • Andrey Ziyatdinov

    (Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health)

  • Gudmar Thorleifsson

    (deCODE genetics/Amgen Inc.)

  • Adam Rubin

    (Stanford University School of Medicine)

  • Luba M. Pardo

    (Erasmus University Medical Center)

  • Wenting Wu

    (Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 1050 Wishard Blvd)

  • Paul A. Khavari

    (Stanford University School of Medicine)

  • Andre Uitterlinden

    (Erasmus University Medical Center)

  • Tamar Nijsten

    (Erasmus University Medical Center)

  • Amanda E. Toland

    (Division of Human Genetics, Comprehensive Cancer Center, Ohio State University)

  • Jon H. Olafsson

    (Landspitali-University Hospital
    University of Iceland)

  • Bardur Sigurgeirsson

    (Landspitali-University Hospital
    University of Iceland)

  • Kristin Thorisdottir

    (Landspitali-University Hospital
    University of Iceland)

  • Eric Jorgensen

    (Kaiser Permanente Northern California)

  • Alice S. Whittemore

    (Stanford University School of Medicine Redwood Bldg)

  • Peter Kraft

    (Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health)

  • Simon N. Stacey

    (deCODE genetics/Amgen Inc.)

  • Kari Stefansson

    (deCODE genetics/Amgen Inc.
    University of Iceland)

  • Maryam M. Asgari

    (Massachusetts General Hospital)

  • Jiali Han

    (Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 1050 Wishard Blvd)

Abstract

Cutaneous squamous cell carcinoma (SCC) is one of the most common cancers in the United States. Previous genome-wide association studies (GWAS) have identified 14 single nucleotide polymorphisms (SNPs) associated with cutaneous SCC. Here, we report the largest cutaneous SCC meta-analysis to date, representing six international cohorts and totaling 19,149 SCC cases and 680,049 controls. We discover eight novel loci associated with SCC, confirm all previously associated loci, and perform fine mapping of causal variants. The novel SNPs occur within skin-specific regulatory elements and implicate loci involved in cancer development, immune regulation, and keratinocyte differentiation in SCC susceptibility.

Suggested Citation

  • Kavita Y. Sarin & Yuan Lin & Roxana Daneshjou & Andrey Ziyatdinov & Gudmar Thorleifsson & Adam Rubin & Luba M. Pardo & Wenting Wu & Paul A. Khavari & Andre Uitterlinden & Tamar Nijsten & Amanda E. Tol, 2020. "Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma," Nature Communications, Nature, vol. 11(1), pages 1-8, December.
  • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-14594-5
    DOI: 10.1038/s41467-020-14594-5
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