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Nature Research, Nature Genetics, 8(41), p. 909-914, 2009

DOI: 10.1038/ng.412

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New common variants affecting susceptibility to basal cell carcinoma

Journal article published in 2009 by Simon N. Stacey, Patrick Sulem, Gisli Masson, Sigurjon A. Gudjonsson ORCID, Gudmar Thorleifsson, Margret Jakobsdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson ORCID, Bardur Sigurgeirsson ORCID, Kristrun R. Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Dominique Scherer, Kari Hemminki, Peter Rudnai and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 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.