Genome-wide association studies (GWAS) of osteosarcoma (OS) are being conducted in order to understand the role that genetic variation plays in OS risk and patient outcome, and to identify new genes or genomic regions that may be important in OS pathogenesis. National and international collaborations have been developed to facilitate accrual of blood or buccal cell DNA on a large set of OS cases. Through the collaborative efforts of: The Children’s Oncology Group (COG); the Harvard School of Dental Medicine, USA; Universidad de Navarra, Pamplona, Spain; Institut Curie, France; Rizzoli Instituti, Bologna, Italy; Royal Orthopaedic Hospital, London, UK; University of Toronto, Litwin Centre for Cancer Genetics, Canada; Instituto de Oncologia Pediátrica GRAACC/UNIFESP, Brazil; Ankara Oncology and Education Research Hospital, Ankara, Turkey; the Peter MacCallum Cancer Centre, and the Kinghorn Cancer Centre, Garvan Institute of Medical Research, Australia; and the Children’s Oncology Group study at the University of Minnesota, we estimate that approximately 2500 germline (blood or buccal cell) DNA samples of OS cases will be genotyped at the NCI's Cancer Genomics Research (CGR) Laboratory and subsequently available for GWAS analyses. A team of biostatisticians has been assembled to create a common control set that will be derived from existing studies. Follow-up will include genotyping and sequence analyses of genomic regions associated with OS.
Note: Genotype data from this study is currently being prepared for dbGaP submission.