Article
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
Nature genetics - 25 Sept 2011
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
Abstract excerpt
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 [C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency...
