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Title: Genome-wide association study identifies two susceptibility loci for osteosarcoma.
Authors: Savage SA,  Mirabello L,  Wang Z,  Gastier-Foster JM,  Gorlick R,  Khanna C,  Flanagan AM,  Tirabosco R,  Andrulis IL,  Wunder JS,  Gokgoz N,  Patiño-Garcia A,  Sierrasesúmaga L,  Lecanda F,  Kurucu N,  Ilhan IE,  Sari N,  Serra M,  Hattinger C,  Picci P,  Spector LG,  Barkauskas DA,  Marina N,  de Toledo SR,  Petrilli AS,  Amary MF,  Halai D,  Thomas DM,  Douglass C,  Meltzer PS,  Jacobs K,  Chung CC,  Berndt SI,  Purdue MP,  Caporaso NE,  Tucker M,  Rothman N,  Landi MT,  Silverman DT,  Kraft P,  Hunter DJ,  Malats N,  Kogevinas M,  Wacholder S,  Troisi R,  Helman L,  Fraumeni JF Jr,  Yeager M,  Hoover RN,  Chanock SJ
Journal: Nat Genet
Date: 2013 Jul
PubMed ID: 23727862
PMC ID: PMC3910497
Abstract: Osteosarcoma is the most common primary bone malignancy of adolescents and young adults. To better understand the genetic etiology of osteosarcoma, we performed a multistage genome-wide association study consisting of 941 individuals with osteosarcoma (cases) and 3,291 cancer-free adult controls of European ancestry. Two loci achieved genome-wide significance: a locus in the GRM4 gene at 6p21.3 (encoding glutamate receptor metabotropic 4; rs1906953; P = 8.1 × 10⁻⁹) and a locus in the gene desert at 2p25.2 (rs7591996 and rs10208273; P = 1.0 × 10⁻⁸ and 2.9 × 10⁻⁷, respectively). These two loci warrant further exploration to uncover the biological mechanisms underlying susceptibility to osteosarcoma.