Review Article
At-Risk Populations for Osteosarcoma: The Syndromes and Beyond
Table 1
Osteosarcoma predisposition syndromes and their associated genes.
| Syndrome | Inheritance | Genes | Gene product | Chromosome |
| Li-Fraumeni | AD | TP53 | Tumor suppressor | 17p13.1 | Retinoblastoma | AD | RB1 | Tumor suppressor | 13q14.2 | Rothmund Thomson II | AR | REQ4 | DNA helicase | 8q24.3 | RAPADILINO | AR | REQ4 | DNA helicase | 8q24.3 | Werner | AR | WRN | DNA helicase | 8p12 | Bloom | AR | BLM | DNA helicase | 15q26.1 | Diamond Blackfan | AD | RPS19, RPL5, RPL11, RPL35A, RPS24, RPS17, RPS7, RPS10, RPS26 | Ribosomal Protein | Multiple |
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