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A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

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Authors
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
Mayordomo, José I
Olafsson, Jon H
Kong, Augustine
Thorsteinsdottir, Unnur
Rafnar, Thorunn
Stefansson, Kari
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
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Issue Date
2011-11

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Citation
Nat. Genet. 2011, 43(11):1098-103
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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To access publisher full text version of this article. Please click on the hyperlink in Additional Links field.
Additional Links
http://dx.doi.org/10.1038/ng.926
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263694/
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Archived with thanks to Nature genetics
ae974a485f413a2113503eed53cd6c53
10.1038/ng.926
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