Genetic Studies of Osteosarcoma

Investigators in the Clinical Genetics Branch (CGB) are conducting genetic studies of osteosarcoma to better understand the role that genetic variation plays in risk and patient outcomes, and to identify new genes or genomic regions that may be important in osteosarcoma pathogenesis. We estimate that approximately 35,000 germline (blood or buccal cell) DNA samples will be genotyped at the NCI Cancer Genomics Research (CGR) Laboratory and subsequently available for genome-wide association analyses and whole-exome sequencing studies. A team of biostatisticians have created a common control set derived from existing studies that will be used to match controls to the cases. We are conducting large genomic case-control and case-case studies to identify novel common and rare germline variants predisposing to osteosarcoma susceptibility and poor patient outcomes.