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Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment (PDQ®)

  • Updated: 05/02/2014

Table 1. Genetic Diseases That Predispose to Osteosarcomaa

Syndrome  Location  Gene  Function 
aTable adapted from Kansara and Thomas.[70]
Bloom syndrome [71]15q26.1BLM (RecQL3)DNA helicase
Diamond-Blackfan anemia [72]Ribosomal proteinsRibosome production [72,73]
Li-Fraumeni syndrome [74]17p13.1P53 DNA damage response
Paget disease [75]18q21-qa22LOH18CR1 IL-1/TNF signaling; RANK signaling pathway
Retinoblastoma [76]13q14.2RB1 Cell-cycle checkpoint
Rothmund-Thomson syndrome [69,77]8q24.3RTS (RecQL4)DNA helicase
Werner syndrome [78]8p12-p11.2WRN (RecQL2)DNA helicase; exonuclease activity


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