New common variants affecting susceptibility to basal cell carcinoma

• Published in: Nature genetics Vol. 41; no. 8; pp. 909 - 914
• Main Authors: Gudjonsson, Sigurjon A, Sigurdsson, Asgeir, Bonenkamp, Johannes J, Magnusdottir, Droplaug N, Thorisdottir, Kristin, Masson, Gisli, Juberias, Pablo, Rodolfo, Monica, Frigge, Michael L, Nelson, Heather H, Hansson, Johan, Saemundsdottir, Jona, Pehamberger, Hubert, Stacey, Simon N, Corredera, Cristina, Sigurgeirsson, Bardur, Gurzau, Eugene, Nagore, Eduardo, Gulcher, Jeffrey R, Gudmundsson, Julius, Benediktsdottir, Kristrun R, Höiom, Veronica, Thorsteinsdottir, Unnur, Fuentelsaz, Victoria, Saez, Berta, Mayordomo, José I, Thorleifsson, Gudmar, Wendt, Judith, Hochleitner, Pia, Kong, Augustine, Jakobsdottir, Margret, Soriano, Virtudes, Olafsson, Jon H, Stefansson, Kari, Rivoltini, Licia, Santinami, Mario, Aben, Katja K H, Karagas, Margaret R, Maurichi, Andrea, Blondal, Thorarinn, Botella-Estrada, Rafael, Gilaberte, Yolanda, Rudnai, Peter, Grasa, Matilde, van Rossum, Michelle M, Okamoto, Ichiro, Hemminki, Kari, Gudbjartsson, Daniel F, Holm, Hilma, Gretarsdottir, Solveig, Ragnarsson, Rafn, Kumar, Rajiv, Di Mauro, Maria G, Kiemeney, Lambertus A, Rafnar, Thorunn, Koppova, Kvetoslava, Lindblom, Annika, de Vries, Esther, Bjarnason, Hjördis, Kristjansson, Kristleifur, Bjornsdottir, Gyda, Sulem, Patrick, Steinthorsdottir, Valgerdur, Scherer, Dominique
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.08.2009; Nature Publishing Group
• Subjects: Agriculture; Animal Genetics and Genomics; Basal cell carcinoma; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer; Cancer Research; Carcinoma, Basal Cell - complications; Carcinoma, Basal Cell - genetics; Carcinoma, Squamous Cell - genetics; Cells; Chromosomes, Human, Pair 7 - genetics; Chromosomes, Human, Pair 9 - genetics; Coronary Artery Disease - complications; Coronary Artery Disease - genetics; Cyclin-dependent kinases; Dermatology; Disease susceptibility; Environmental health; Fundamental and applied biological sciences. Psychology; Gene Function; Genetic aspects; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Health aspects; Human Genetics; Humans; Keratin; Keratin-5 - genetics; letter; Linkage Disequilibrium - genetics; Medical sciences; Medicin och hälsovetenskap; Melanoma; Melanoma - pathology; Membrane Proteins - genetics; Molecular Sequence Data; Multivariate analysis; Neoplasm Proteins - genetics; Pigmentation; Polymorphism, Single Nucleotide - genetics; Risk factors; Sample size; Single nucleotide polymorphisms; Skin Neoplasms - complications; Skin Neoplasms - genetics; Tumors of the skin and soft tissue. Premalignant lesions; Ultraviolet radiation; Sweden; Spain; Variant; Skin disease; Basal cell carcinoma; Malignant tumor; Cancer

In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 × 10−9). A varian...