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Title: Meta-analysis identifies four new loci associated with testicular germ cell tumor.
Authors: Chung CC,  Kanetsky PA,  Wang Z,  Hildebrandt MA,  Koster R,  Skotheim RI,  Kratz CP,  Turnbull C,  Cortessis VK,  Bakken AC,  Bishop DT,  Cook MB,  Erickson RL,  FossÃ¥ SD,  Jacobs KB,  Korde LA,  Kraggerud SM,  Lothe RA,  Loud JT,  Rahman N,  Skinner EC,  Thomas DC,  Wu X,  Yeager M,  Schumacher FR,  Greene MH,  Schwartz SM,  McGlynn KA,  Chanock SJ,  Nathanson KL
Journal: Nat Genet
Date: 2013 Jun
Branches: CGB, CGR, HREB, LTG
PubMed ID: 23666239
PMC ID: PMC3723930
Abstract: We conducted a meta-analysis to identify new susceptibility loci for testicular germ cell tumor (TGCT). In the discovery phase, we analyzed 931 affected individuals and 1,975 controls from 3 genome-wide association studies (GWAS). We conducted replication in 6 independent sample sets comprising 3,211 affected individuals and 7,591 controls. In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. These new TGCT susceptibility loci contain biologically plausible genes encoding proteins important for male germ cell development, chromosomal segregation and the DNA damage response.