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Cited by 328

The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.

New common variants affecting susceptibility to basal cell carcinoma

Open access
Stacey, Simon N, Sulem, Patrick, Masson, Gisli, Gudjonsson, Sigurjon A, Thorleifsson, Gudmar, Jakobsdottir, Margret, Sigurdsson, Asgeir, Gudbjartsson, Daniel F, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R, Thorisdottir, Kristin, Ragnarsson, Rafn, Scherer, Dominique, Hemminki, Kari, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Botella-Estrada, Rafael, Soriano, Virtudes, Juberias, Pablo, Saez, Berta, Gilaberte, Yolanda, Fuentelsaz, Victoria, Corredera, Cristina, Grasa, Matilde, Höiom, Veronica, Lindblom, Annika, Bonenkamp, Johannes J, van Rossum, Michelle M, Aben, Katja K H, de Vries, Esther, Santinami, Mario, Di Mauro, Maria G, Maurichi, Andrea, Wendt, Judith, Hochleitner, Pia, Pehamberger, Hubert, Gudmundsson, Julius, Magnusdottir, Droplaug N, Gretarsdottir, Solveig, Holm, Hilma, Steinthorsdottir, Valgerdur, Frigge, Michael L, Blondal, Thorarinn, Saemundsdottir, Jona, Bjarnason, Hjördis, Kristjansson, Kristleifur, Bjornsdottir, Gyda, Okamoto, Ichiro, Rivoltini, Licia, Rodolfo, Monica, Kiemeney, Lambertus A, Hansson, Johan, Nagore, Eduardo, Mayordomo, José I, Kumar, Rajiv, Karagas, Margaret R, Nelson, Heather H, Gulcher, Jeffrey R, Rafnar, Thorunn, Thorsteinsdottir, Unnur, Olafsson, Jon H, Kong, Augustine, Stefansson, Kari·2009·Nature Genetics

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 × 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.

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Metadata

Authors
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., Höiom, V., Lindblom, A., Bonenkamp, J. J., van Rossum, M. M., Aben, K. K. H., de Vries, E., Santinami, M., Di Mauro, M. G., 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., 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.
Venue
Nature Genetics
Published
2009-07-05
Volume
41
Issue
8
Pages
909-914
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2091298691
Cited by
328
References
10
FWCI
25.91
Type
journal article
Language
en
Open access
green

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