Review Article

At-Risk Populations for Osteosarcoma: The Syndromes and Beyond

Table 1

Osteosarcoma predisposition syndromes and their associated genes.

SyndromeInheritanceGenesGene productChromosome

Li-FraumeniADTP53Tumor suppressor17p13.1
RetinoblastomaADRB1Tumor suppressor13q14.2
Rothmund Thomson IIARREQ4DNA helicase8q24.3
RAPADILINOARREQ4DNA helicase8q24.3
WernerARWRNDNA helicase8p12
BloomARBLMDNA helicase15q26.1
Diamond BlackfanADRPS19, RPL5, RPL11, RPL35A,
RPS24, RPS17, RPS7, RPS10, RPS26
Ribosomal
Protein
Multiple