Article
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2021
Dalmasso B, Pastorino L, Nathan V, Shah N N, Palmer J M, Howlie M, Johansson P A, Freedman N D, Carter B D, Beane-Freeman L, Hicks B, Molven A, Helgadottir H, Sankar A, Tsao H, Stratigos A J, Helsing P, Van Doorn R, Gruis N A, Visser M, Wadt K A W, Mann G, Holland E A, Nagore E, Potrony M, Puig S, Menin C, Peris K, Fargnoli M C, Calista D, Soufir N, Harland M, Bishop T, Kanetsky P A, Elder D E, Andreotti V, Vanni I, Bruno W, Höiom V, Tucker M A, Yang X R, Andresen P A, Adams D J, Landi M T, Hayward N K, Goldstein A M, Ghiorzo P
Abstract excerpt
PURPOSE: Ataxia-Telangiectasia Mutated (ATM) has been implicated in the risk of several cancers, but establishing a causal relationship is often challenging. Although ATM single-nucleotide polymorphisms have been linked to melanoma, few functional alleles have been identified. Therefore, ATM impact on melanoma predisposition is unclear. METHODS: From 22 American, Australian, and European sites, we collected 2,104...
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