Article
Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.
Human molecular genetics - 1 Mar 2016
Stacey Simon N, Kehr Birte, Gudmundsson Julius, Zink Florian, Jonasdottir Aslaug, Gudjonsson Sigurjon A, Sigurdsson Asgeir, Halldorsson Bjarni V, Agnarsson Bjarni A, Benediktsdottir Kristrun R, Aben Katja K H, Vermeulen Sita H, Cremers Ruben G, Panadero Angeles, Helfand Brian T, Cooper Phillip R, Donovan Jenny L, Hamdy Freddie C, Jinga Viorel, Okamoto Ichiro, Jonasson Jon G, Tryggvadottir Laufey, Johannsdottir Hrefna, Kristinsdottir Anna M, Masson Gisli, Magnusson Olafur T, Iordache Paul D, Helgason Agnar, Helgason Hannes, Sulem Patrick, Gudbjartsson Daniel F, Kong Augustine, Jonsson Eirikur, Barkardottir Rosa B, Einarsson Gudmundur V, Rafnar Thorunn, Thorsteinsdottir Unnur, Mates Ioan N, Neal David E, Catalona William J, Mayordomo José I, Kiemeney Lambertus A, Thorleifsson Gudmar, Stefansson Kari
Abstract excerpt
Transcriptional and splicing anomalies have been observed in intron 8 of the CASP8 gene (encoding procaspase-8) in association with cutaneous basal-cell carcinoma (BCC) and linked to a germline SNP rs700635. Here, we show that the rs700635[C] allele, which is associated with increased risk of BCC and breast cancer, is protective against prostate cancer [odds ratio (OR) = 0.91, P = 1.0 × 10(-6)]. rs700635[C] is...