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| Title: | New common variants affecting susceptibility to basal cell carcinoma. |
| Author(s): | Stacey, S.N.
Sulem, P.
Masson, G.
Gudjonsson, S.A.
Thorleifsson, G.
Jakobsdottir, M.
Sigurdsson, A.
Gudbjartsson, D.F.
Sigurgeirsson, B.
Benediktsdottir, K.R.
Thorisdottir, K.
Ragnarsson, R.
Scherer, D.
Hemminki, K.
Rudnai, P.
Gurzau, E.
Koppova, K.
Botella-Estrada, R.
Soriano, V.
Juberias, P.
Saez, B.
Gilaberte, Y.
Fuentelsaz, V.
Corredera, C.
Grasa, M.
Hoiom, V.
Lindblom, A.
Bonenkamp, J.J. (136158390)
Rossum, M.M. van (242448356)
Aben, K.K.H. (217174302)
Vries, E. de
Santinami, M.
Mauro, M.G. Di
Maurichi, A.
Wendt, J.
Hochleitner, P.
Pehamberger, H.
Gudmundsson, J.
Magnusdottir, D.N.
Gretarsdottir, S.
Holm, H.
Steinthorsdottir, V.
Frigge, M.L.
Blondal, T.
Saemundsdottir, J.
Bjarnason, H.
Kristjansson, K.
Bjornsdottir, G.
Okamoto, I.
Rivoltini, L.
Rodolfo, M.
Kiemeney, L.A.L.M. (105132063)
Hansson, J.
Nagore, E.
Mayordomo, J.I.
Kumar, R.
Karagas, M.R.
Nelson, H.H.
Gulcher, J.R.
Rafnar, T.
Thorsteinsdottir, U.
Olafsson, J.H.
Kong, A.
Stefansson, K. |
| Publication year: | 2009 |
| Document type: | Article / Letter to editor |
| Journal: | Nature Genetics |
| ISSN: | 1061-4036 |
| Volume: | vol. 41 |
| Issue: | iss. 8 |
| Start page: | p. 909 |
| End page: | p. 914 |
| 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. |
| Subject: | N4i 4: Mechanisms in modulation of inflammation
NCEBP 1: Molecular epidemiology
ONCOL 5: Aetiology, screening and detection |
| Subject: | ONCOL 5: Aetiology, screening and detection |
| Organization: | Dermatology
Epidemiology, Biostatistics & HTA
Urology
Surgery
UMCN Extern |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/81164
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