Review Article

Using Epidemiology and Genomics to Understand Osteosarcoma Etiology

Table 1

Inherited disorders associated with increased rates of osteosarcoma.

DisorderGeneChromosomeAutosomal inheritance pattern

Li-Fraumeni SyndromeTP53, tumor protein p5317p13.1Dominant

RetinoblastomaRB1, retinoblastoma 113q14.2Dominant

Rothmund Thomson SyndromeREQL4, RecQ protein-like 4, DNA helicase8q24.3Recessive

Werner SyndromeWRN, Werner syndrome, RecQ helicase-like8p12Recessive

Bloom SyndromeBLM, Bloom syndrome, RecQ helicase-like15q26.1Recessive

Diamond Blackfan AnemiaRibosomal protein genes, including RPS19, RPL5, RPL11, RPL35A, RPS24, RPS17, and RPS7 multipleDominant