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| Title: | A germline variant in the TP53 polyadenylation signal confers cancer susceptibility |
| Author(s): | 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.
Nexo, B.A.
Tjonneland, A.
Overvad, K.
Rudnai, P.
Gurzau, E.
Koppova, K.
Hemminki, K.
Corredera, C.
Fuentelsaz, V.
Grasa, P.
Navarrete, S.
Fuertes, F.
Garcia-Prats, M.D.
Sanambrosio, E.
Panadero, A.
Juan, A. de
Garcia, A.
Rivera, F.
Planelles, D.
Soriano, V.
Requena, C.
Aben, K.K.H. (217174302)
Rossum, M.M. van (242448356)
Cremers, R.G.H.M. (329151800)
Oort, I.M. van (31466811X)
Spronsen, D.J. van (191338419)
Schalken, J.A. (07312804X)
Peters, W.H.M. (068693281)
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.
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.
Jorgensen, 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.L.M. (105132063)
Kumar, R.
Mayordomo, J.I.
Olafsson, J.H. |
| Publication year: | 2011 |
| Document type: | Article / Letter to editor |
| Journal: | Nature Genetics |
| ISSN: | 1061-4036 |
| Volume: | vol. 43 |
| Issue: | iss. 11 |
| Start page: | p. 1098 |
| End page: | p. 1103 |
| Annotation: | 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 Nexo, Bjorn A Tjonneland, Anne Overvad, Kim Rudnai, Peter Gurzau, Eugene Koppova, Kvetoslava Hemminki, Kari Corredera, Cristina Fuentelsaz, Victoria Grasa, Pilar Navarrete, Sebastian Fuertes, Fernando Garcia-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, Ei |
| 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 x 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 x 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 x 10(-6)), glioma (OR = 2.35, P = 1.0 x 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 x 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). |
| Subject: | IGMD 2: Molecular gastro-enterology and hepatology
ONCOL 3: Translational research
N4i 1: Pathogenesis and modulation of inflammation
ONCOL 1: Hereditary cancer and cancer-related syndromes
NCEBP 1: Molecular epidemiology
NCEBP 1: Molecular epidemiology
ONCOL 5: Aetiology, screening and detection
NCMLS 3A: Genetics and epigenetic pathways of disease |
| Organization: | UMCN Extern
Epidemiology, Biostatistics & HTA
Dermatology
Urology
Medical Oncology
Gastroenterology |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/97569
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