Helman, L. (Lee)

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    Genome-wide association study identifies two susceptibility loci for osteosarcoma
    (Nature Publishing Group, 2013-07) Hunter, D.J. (David J.); Patiño-García, A. (Ana); Silverman, D.T. (Debra T.); Tirabosco, R. (Roberto); Gastier-Foster, J.M. (Julie M.); Spector, L. (Logan); Meltzer, P.S. (Paul S.); Gokgoz, N. (Nalan); Kogevinas, M. (Manolis); Purdue, M. (Mark); Hoover, R.N. (Robert N.); Amary, M.F. (María Fernanda); Flanagan, A.M. (Adrienne M.); Wunder, J.S. (Jay S.); Serra, M. (Massimo); Thomas, D.M. (David M.); Marina, N. (Neyssa); Wacholder, S. (Sholom); Halai, D. (Dina); Douglass, C. (Chester); Sierrasesumaga, L. (Luis); Wang, Z. (Zhaoming); Fraumeni, J.F. (Joseph F.); Kraft, P. (Peter); Chung, C.C. (Charles C.); Mirabello, L. (Lisa); Barkauskas, D.A. (Donald A.); Caminada-de-Toledo, S.R. (Silvia Regina); Gorlick, R.G. (Richard G.); Caporaso, N.E. (Neil E.); Khanna, C. (Chand); Hattinger, C. (Claudia); Malats, N. (Nuria); Helman, L. (Lee); Savage, S.A. (Sharon A.); Chanock, S.J. (Stephen J.); Jacobs, K. (Kevin); Landi, M.T. (María Teresa); Berndt, S.I. (Sonja I.); Picci, P. (Piero); Lecanda, F. (Fernando); Ilhan, I.E. (Inci Ergurhan); Kurucu, N. (Nilgün); Yeager, M. (Meredith); Tucker, M. (Margaret); Troisi, R.J. (Rebecca J.); Petrilli, A.S. (Antonio S.); Sari, N. (Neriman); Rothman, N. (Nathaniel); Andrulis, I.L. (Irene L.)
    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.