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

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

Titill: Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma
Höfundur: Sarin, Kavita Y.
Lin, Yuan
Daneshjou, Roxana
Ziyatdinov, Andrey
Thorleifsson, Gudmar   orcid.org/0000-0003-4623-9087
Rubin, Adam
Pardo, Luba M.
Wu, Wenting
Khavari, Paul A.
Uitterlinden, Andre
... 12 fleiri höfundar Sýna alla höfunda
Útgáfa: 2020-02-10
Tungumál: Enska
Umfang: 820
Háskóli/Stofnun: Háskóli Íslands
University of Iceland
Svið: Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Deild: Læknadeild (HÍ)
Faculty of Medicine (UI)
Birtist í: Nature Communications;11(1)
ISSN: 2041-1723
DOI: 10.1038/s41467-020-14594-5
Efnisorð: Genome-wide meta-analysis; Cutaneous squamous cell carcinoma; Cancer; Nucleotide polymorphisms; Erfðarannsóknir; Krabbamein
URI: https://hdl.handle.net/20.500.11815/2360

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Tilvitnun:

Sarin, K.Y., Lin, Y., Daneshjou, R. et al. Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. Nature Communications 11, 820 (2020). https://doi.org/10.1038/s41467-020-14594-5

Útdráttur:

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. © 2020, The Author(s).

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Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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