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Cited by 295

The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Open access
Swedish Low-risk Colorectal Cancer Study Group, Stacey, Simon N, Sulem, Patrick, Jonasdottir, Aslaug, Masson, Gisli, Gudmundsson, Julius, Gudbjartsson, Daniel F, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Nexø, Bjørn A, Tjønneland, Anne, Overvad, Kim, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Pilar, Navarrete, Sebastian, Fuertes, Fernando, García-Prats, Maria D, Sanambrosio, Enrique, Panadero, Angeles, De Juan, Ana, Garcia, Almudena, Rivera, Fernando, Planelles, Dolores, Soriano, Virtudes, Requena, Celia, Aben, Katja K, van Rossum, Michelle M, Cremers, Ruben G H M, van Oort, Inge M, van Spronsen, Dick-Johan, Schalken, Jack A, Peters, Wilbert H M, Helfand, Brian T, Donovan, Jenny L, Hamdy, Freddie C, Badescu, Daniel, Codreanu, Ovidiu, Jinga, Mariana, Csiki, Irma E, Constantinescu, Vali, Badea, Paula, Mates, Ioan N, Dinu, Daniela E, Constantin, Adrian, Mates, Dana, Kristjansdottir, Sjofn, Agnarsson, Bjarni A, Jonsson, Eirikur, Barkardottir, Rosa B, Einarsson, Gudmundur V, Sigurdsson, Fridbjorn, Moller, Pall H, Stefansson, Tryggvi, Valdimarsson, Trausti, Johannsson, Oskar T, Sigurdsson, Helgi, Jonsson, Thorvaldur, Jonasson, Jon G, Tryggvadottir, Laufey, Rice, Terri, Hansen, Helen M, Xiao, Yuanyuan, Lachance, Daniel H, O′Neill, Brian Patrick, Kosel, Matthew L, Decker, Paul A, Thorleifsson, Gudmar, Johannsdottir, Hrefna, Helgadottir, Hafdis T, Sigurdsson, Asgeir, Steinthorsdottir, Valgerdur, Lindblom, Annika, Sandler, Robert S, Keku, Temitope O, Banasik, Karina, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, Pedersen, Oluf, Jinga, Viorel, Neal, David E, Catalona, William J, Wrensch, Margaret, Wiencke, John, Jenkins, Robert B, Nagore, Eduardo, Vogel, Ulla, Kiemeney, Lambertus A, Kumar, Rajiv, Mayordomo, José I, Olafsson, Jon H, Kong, Augustine, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Stefansson, Kari·2011·Nature Genetics
DOI 10.1038/ng.926
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Abstract

To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10−17), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10−20). rs78378222 is in the 3′ untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3′-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10−6), glioma (OR = 2.35, P = 1.0 × 10−5) and colorectal adenoma (OR = 1.39, P = 1.6 × 10−4). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88–1.27).

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Authors
Swedish Low-risk Colorectal Cancer Study Group, Stacey, S. N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D. F., Magnusson, O. T., Gudjonsson, S. A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., Nexø, B. A., Tjønneland, A., Overvad, K., Rudnai, P., Gurzau, E., Koppova, K., Hemminki, K., Corredera, C., Fuentelsaz, V., Grasa, P., Navarrete, S., Fuertes, F., García-Prats, M. D., Sanambrosio, E., Panadero, A., De Juan, A., Garcia, A., Rivera, F., Planelles, D., Soriano, V., Requena, C., Aben, K. K., van Rossum, M. M., Cremers, R. G. H. M., van Oort, I. M., van Spronsen, D.-J., Schalken, J. A., Peters, W. H. M., Helfand, B. T., Donovan, J. L., Hamdy, F. C., Badescu, D., Codreanu, O., Jinga, M., Csiki, I. E., Constantinescu, V., Badea, P., Mates, I. N., Dinu, D. E., Constantin, A., Mates, D., Kristjansdottir, S., Agnarsson, B. A., Jonsson, E., Barkardottir, R. B., Einarsson, G. V., Sigurdsson, F., Moller, P. H., Stefansson, T., Valdimarsson, T., Johannsson, O. T., Sigurdsson, H., Jonsson, T., Jonasson, J. G., Tryggvadottir, L., Rice, T., Hansen, H. M., Xiao, Y., Lachance, D. H., O′Neill, B. P., Kosel, M. L., Decker, P. A., Thorleifsson, G., Johannsdottir, H., Helgadottir, H. T., Sigurdsson, A., Steinthorsdottir, V., Lindblom, A., Sandler, R. S., Keku, T. O., Banasik, K., Jørgensen, T., Witte, D. R., Hansen, T., Pedersen, O., Jinga, V., Neal, D. E., Catalona, W. J., Wrensch, M., Wiencke, J., Jenkins, R. B., Nagore, E., Vogel, U., Kiemeney, L. A., Kumar, R., Mayordomo, J. I., Olafsson, J. H., Kong, A., Thorsteinsdottir, U., Rafnar, T., & Stefansson, K.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2011-09-25
Volume
43
Issue
11
Pages
1098-1103
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.926
OpenAlex
W2091808830
Cited by
295
References
6
FWCI
14.07
Type
journal article
Language
en
Open access
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