title: A genome-wide association study of testicular germ cell tumor.
abstract: We conducted a genome-wide association study for testicular germ cell tumor (TGCT), genotyping 307,666 SNPs in 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. We found strong evidence for susceptibility loci on chromosome 5 (per allele OR = 1.37 (95% CI = 1.19-1.58), P = 3 x 10(-13)), chromosome 6 (OR = 1.50 (95% CI = 1.28-1.75), P = 10(-13)) and chromosome 12 (OR = 2.55 (95% CI = 2.05-3.19), P = 10(-31)). KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Rapley
authors.forename: Clare
authors.initials: C
authors.lastname: Turnbull
authors.forename: Ali Amin
authors.initials: AA
authors.lastname: Al Olama
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
authors.forename: Rachel
authors.initials: R
authors.lastname: Linger
authors.forename: Robert A
authors.initials: RA
authors.lastname: Huddart
authors.forename: Anthony
authors.initials: A
authors.lastname: Renwick
authors.forename: Deborah
authors.initials: D
authors.lastname: Hughes
authors.forename: Sarah
authors.initials: S
authors.lastname: Hines
authors.forename: Sheila
authors.initials: S
authors.lastname: Seal
authors.forename: Jonathan
authors.initials: J
authors.lastname: Morrison
authors.forename: Jeremie
authors.initials: J
authors.lastname: Nsengimana
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Deloukas
authors.forename: Nazneen
authors.initials: N
authors.lastname: Rahman
authors.forename: D Timothy
authors.initials: DT
authors.lastname: Bishop
authors.forename: Douglas F
authors.initials: DF
authors.lastname: Easton
authors.forename: Michael R
authors.initials: MR
authors.lastname: Stratton
mesh_terms: D016022:Case-Control Studies; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D002896:Chromosomes, Human, Pair 6; D055106:Genome-Wide Association Study; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D019089:Stem Cell Factor / Q000235:genetics; D013736:Testicular Neoplasms / Q000235:genetics*; D006113:United Kingdom; D050998:bcl-2 Homologous Antagonist-Killer Protein / Q000235:genetics
chemical_list: C494772:BAK1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins; C499038:SPRY4 protein, human; D019089:Stem Cell Factor; D050998:bcl-2 Homologous Antagonist-Killer Protein