Skip to Content

Genetic Modifiers of Osteosarcoma

DCEG investigators in the Clinical Genetics Branch (CGB) have a major interest in identifying genetic modifiers of risk for osteosarcoma. This work builds upon initial observations by Dr. Sharon Savage in the Bone Disease and Injury Study of Osteosarcoma. Analysis of single nucleotide polymorphisms (SNPs) in osteosarcoma cases and controls found associations between several biologically plausible genes and osteosarcoma risk.  Our registry studies of osteosarcoma have further refined the epidemiology of this primary bone cancer of adolescents and young adults. Additionally, through an international collaborative effort, investigators in CGB showed strong associations with height at diagnosis and birth weight with osteosarcoma.

A multi-institutional, international collaborative genome-wide association study, led by Dr. Savage, is being conducted in order to understand better the genetic contribution to osteosarcoma etiology and outcomes. Additionally, we are collaborating with the Children’s Oncology Group (COG) on a study of additional potential osteosarcoma risk factors.

For more information, contact Sharon Savage.

Clinical Genetics Branch - Research Areas