Relationship of Chromosome Arm 10q Variants to Occurrence of Multiple Primary Melanoma in the Population-Based Genes, Environment, and Melanoma (GEM) Study

• Authors: Jonathan A Miles, University of North Carolina; Irene Orlow, Memorial Sloan-Kettering Cancer Center; Peter A Kanetsky, Moffitt Cancer Center and Research Institute; Li Luo, University of New Mexico; Anne E Cust, University of Sydney; Bruce K Armstrong, University of Western Australia; Anne Kricker, University of Sydney; Hoda Anton-Culver, University of California Irvine; Stepehn B Gruber, University of Southern California; Richard P Gallagher, University of British Columbia; Roberto Zanetti, Centre for Epidemiology and Prevention in Oncology in Piedmont; Stefano Rosso, Centre for Epidemiology and Prevention in Oncology in Piedmont; Lidia Sacchetto, Centre for Epidemiology and Prevention in Oncology in Piedmont; Terence Dwyer, University of Oxford; David C Gibbs, Emory University; Klaus J Busam, Memorial Sloan-Kettering Cancer Center; Vikram Mavinkurve, Memorial Sloan-Kettering Cancer Center; David W Ollila, University of North Carolina; Colin B Begg, Memorial Sloan-Kettering Cancer Center; Marianne Berwick, University of New Mexico; Nancy E Thomas, University of North Carolina
• Journal Title: JOURNAL OF INVESTIGATIVE DERMATOLOGY
• Volume: Volume 139, Number 6
• Publisher: ELSEVIER SCIENCE INC | 2019-06-01, Pages 1410-1412
• Type of Work: Article | Post-print: After Peer Review
• Publisher DOI: http://doi.org/10.1016/j.jid.2018.11.030
• Subjects: Health Sciences, Epidemiology; Health Sciences, Pathology
• Keywords: Science & Technology; Life Sciences & Biomedicine; Dermatology; CUTANEOUS MELANOMA; RISK; POLYMORPHISMS; SURVIVAL; CANCER

Abstract

Using a genome-wide association (GWA) study of familial melanoma pedigrees (excluding CDKN2A+ pedigrees) and genetically matched controls, Teerlink et al. identified three single nucleotide polymorphisms (SNPs) in close proximity and high linkage disequilibrium (LD) in the 10q25.1 region (rs17119434, rs17119461, and rs17119490) associated with melanoma (Teerlink et al., 2012). These SNPs had low minor allele frequencies (MAFs) of 0.005 among controls utilized by Teerlink et al. (Teerlink et al., 2012), making detection of associations via traditional case-control methods challenging. We sought to confirm the relationship between these SNPs and melanoma utilizing the population-based Genes, Environment, and Melanoma (GEM) Study, designed to detect associations of rare genetic variants with melanoma (Begg et al., 2006).