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Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.
Stacey SN, Gudbjartsson DF, Sulem P, Bergthorsson JT, Kumar R, Thorleifsson G, Sigurdsson A, Jakobsdottir M, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Scherer D, Rudnai P, Gurzau E, Koppova K, Höiom V, Botella-Estrada R, Soriano V, Juberías P, Grasa M, Carapeto FJ, Tabuenca P, Gilaberte Y, Gudmundsson J, Thorlacius S, Helgason A, Thorlacius T, Jonasdottir A, Blondal T, Gudjonsson SA, Jonsson GF, Saemundsdottir J, Kristjansson K, Bjornsdottir G, Sveinsdottir SG, Mouy M, Geller F, Nagore E, Mayordomo JI, Hansson J, Rafnar T, Kong A, Olafsson JH, Thorsteinsdottir U, Stefansson K. Stacey SN, et al. Nat Genet. 2008 Nov;40(11):1313-8. doi: 10.1038/ng.234. Epub 2008 Oct 12. Nat Genet. 2008. PMID: 18849993
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
Rafnar T, Sulem P, Stacey SN, Geller F, Gudmundsson J, Sigurdsson A, Jakobsdottir M, Helgadottir H, Thorlacius S, Aben KK, Blöndal T, Thorgeirsson TE, Thorleifsson G, Kristjansson K, Thorisdottir K, Ragnarsson R, Sigurgeirsson B, Skuladottir H, Gudbjartsson T, Isaksson HJ, Einarsson GV, Benediktsdottir KR, Agnarsson BA, Olafsson K, Salvarsdottir A, Bjarnason H, Asgeirsdottir M, Kristinsson KT, Matthiasdottir S, Sveinsdottir SG, Polidoro S, Höiom V, Botella-Estrada R, Hemminki K, Rudnai P, Bishop DT, Campagna M, Kellen E, Zeegers MP, de Verdier P, Ferrer A, Isla D, Vidal MJ, Andres R, Saez B, Juberias P, Banzo J, Navarrete S, Tres A, Kan D, Lindblom A, Gurzau E, Koppova K, de Vegt F, Schalken JA, van der Heijden HF, Smit HJ, Termeer RA, Oosterwijk E, van Hooij O, Nagore E, Porru S, Steineck G, Hansson J, Buntinx F, Catalona WJ, Matullo G, Vineis P, Kiltie AE, Mayordomo JI, Kumar R, Kiemeney LA, Frigge ML, Jonsson T, Saemundsson H, Barkardottir RB, Jonsson E, Jonsson S, Olafsson JH, Gulcher JR, Masson G, Gudbjartsson DF, Kong A, Thorsteinsdottir U, Stefansson K. Rafnar T, et al. Nat Genet. 2009 Feb;41(2):221-7. doi: 10.1038/ng.296. Epub 2009 Jan 18. Nat Genet. 2009. PMID: 19151717 Free PMC article.
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Stacey SN, Sulem P, Gudbjartsson DF, Jonasdottir A, Thorleifsson G, Gudjonsson SA, Masson G, Gudmundsson J, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Hemminki K, Nexø BA, Tjønneland A, Overvad K, Johannsdottir H, Helgadottir HT, Thorsteinsdottir U, Kong A, Vogel U, Kumar R, Nagore E, Mayordomo JI, Rafnar T, Olafsson JH, Stefansson K. Stacey SN, et al. Hum Mol Genet. 2014 Jun 1;23(11):3045-53. doi: 10.1093/hmg/ddt671. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403052 Free PMC article.
New basal cell carcinoma susceptibility loci.
Stacey SN, Helgason H, Gudjonsson SA, Thorleifsson G, Zink F, Sigurdsson A, Kehr B, Gudmundsson J, Sulem P, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Gilaberte Y, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Nexø BA, Tjønneland A, Overvad K, Jonasson JG, Tryggvadottir L, Johannsdottir H, Kristinsdottir AM, Stefansson H, Masson G, Magnusson OT, Halldorsson BV, Kong A, Rafnar T, Thorsteinsdottir U, Vogel U, Kumar R, Nagore E, Mayordomo JI, Gudbjartsson DF, Olafsson JH, Stefansson K. Stacey SN, et al. Nat Commun. 2015 Apr 9;6:6825. doi: 10.1038/ncomms7825. Nat Commun. 2015. PMID: 25855136 Free PMC article.