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Volume 2012 (2012), Article ID 627254, 11 pages
Review Article

The Genetics of Osteosarcoma

1Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8
2Department of Pathology and Molecular Medicine, Queen’s University, Kingston, ON, Canada K7L 3N6

Received 8 December 2011; Accepted 31 January 2012

Academic Editor: Luca Sangiorgi

Copyright © 2012 Jeff W. Martin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Osteosarcoma is a primary bone malignancy with a particularly high incidence rate in children and adolescents relative to other age groups. The etiology of this often aggressive cancer is currently unknown, because complicated structural and numeric genomic rearrangements in cancer cells preclude understanding of tumour development. In addition, few consistent genetic changes that may indicate effective molecular therapeutic targets have been reported. However, high-resolution techniques continue to improve knowledge of distinct areas of the genome that are more commonly associated with osteosarcomas. Copy number gains at chromosomes 1p, 1q, 6p, 8q, and 17p as well as copy number losses at chromosomes 3q, 6q, 9, 10, 13, 17p, and 18q have been detected by numerous groups, but definitive oncogenes or tumour suppressor genes remain elusive with respect to many loci. In this paper, we examine studies of the genetics of osteosarcoma to comprehensively describe the heterogeneity and complexity of this cancer.