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Genome-wide association study identifies two susceptibility loci for osteosarcoma

Autores: Savage, S. A.; Mirabello, L.; Wang, Z.; Gastier-Foster, J. M.; Gorlick, R.; Khanna, C.; Flanagan, A. M.; Tirabosco, R.; Andrulis, I. L.; Wunder, J. S.; Gokgoz, N.; Patiño García, Ana; Sierrasesúmaga Ariznavarreta, Luis; Lecanda Cordero, Fernando; Kurucu, N.; Ilhan, I. E.; Sari, N.; Serra, M.; Hattinger, C. ; Picci, P.; Spector, L. G.; Barkauskas, D. A.; Marina, N.; de Toledo, S. R.; Petrilli, A. S.; Amary, M. F.; Halai, D.; Thomas, D. M.; Douglass, C.; Meltzer, P. S.; Jacobs, K.; Chung, C. C.; Berndt, S. I.; Purdue, M. P.; Caporaso, N. E.; Tucker, M.; Rothman, N.; Landi, M. T.; Silverman, D. T.; Kraft, P.; Hunter, D. J.; Malats, N.; Kogevinas, M.; Wacholder, S.; Troisi, R.; Helman, L.; Fraumeni, J. F. Jr.; Yeager, M.; Hoover, R. N.; Chanock, S. J.
Título de la revista: NATURE GENETICS
ISSN: 1061-4036
Volumen: 45
Número: 7
Páginas: 799 - 803
Fecha de publicación: 2013
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¿¿) and a locus in the gene desert at 2p25.2 (rs7591996 and rs10208273; P = 1.0 × 10¿¿ and 2.9 × 10¿¿, respectively). These two loci warrant further exploration to uncover the biological mechanisms underlying susceptibility to osteosarcoma.