New common variants affecting susceptibility to basal cell carcinoma

Simon N. Stacey, Patrick Sulem, Gisli Masson, Sigurjon A. Gudjonsson, Gudmar Thorleifsson, Margret Jakobsdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson, Bardur Sigurgeirsson, Kristrun R. Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Dominique Scherer, Kari Hemminki, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Rafael Botella-Estrada, Virtudes Soriano, Pablo JuberiasBerta Saez, Yolanda Gilaberte, Victoria Fuentelsaz, Cristina Corredera, Matilde Grasa, Veronica Höiom, Annika Lindblom, Johannes J. Bonenkamp, Michelle M. Van Rossum, Katja K H Aben, Esther De Vries, Mario Santinami, Maria G. Di Mauro, Andrea Maurichi, Judith Wendt, Pia Hochleitner, Hubert Pehamberger, Julius Gudmundsson, Droplaug N. Magnusdottir, Solveig Gretarsdottir, Hilma Holm, Valgerdur Steinthorsdottir, Michael L. Frigge, Thorarinn Blondal, Jona Saemundsdottir, Hjördis Bjarnason, Kristleifur Kristjansson, Gyda Bjornsdottir, Ichiro Okamoto, Licia Rivoltini, Monica Rodolfo, Lambertus A. Kiemeney, Johan Hansson, Eduardo Nagore, José I. Mayordomo, Rajiv Kumar, Margaret R. Karagas, Heather H. Nelson, Jeffrey R. Gulcher, Thorunn Rafnar, Unnur Thorsteinsdottir, Jon H. Olafsson, Augustine Kong, Kari Stefansson

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285 Scopus citations


In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 × 10 -9). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 × 10 -9), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 × 10 -10). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.

Original languageEnglish (US)
Pages (from-to)909-914
Number of pages6
JournalNature Genetics
Issue number8
StatePublished - Aug 2009

Bibliographical note

Funding Information:
We thank G.H. Olafsdottir and L. Tryggvadottir of the Icelandic Cancer Registry for assistance with the ascertainment of affected individuals, S. Sveinsdottir for assistance with subject recruitment, and H. Sigurdsson for assistance with the figures. We are grateful to I. Saaf for permission to reproduce a section of the Human Intermediate Filament Database in Supplementary Figure 1. This study was supported in part by the Jubilaumsfonds of the Austrian National Bank (project numbers 11946 and 12161), the Swedish Cancer Society, the Radiumhemmet Research Funds and the Swedish Research Council, the US National Institute of Environmental Health Sciences (T32E007155), the US National Institutes of Health (R01CA082354 and R01CA57494), and a Research Investment Grant of the Radboud University Nijmegen Medical Centre.


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