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osteogenic sarcoma

Many instances of osteogenic sarcoma occur in association with retinoblastoma (RB; 180200), which is caused by mutation in the RB1 gene (614041) on chromosome 13q14. Osteosarcoma occurs frequently in Paget disease of bone, which can be caused by mutation in the TNFRSF11A gene on chromosome 18q22. Mutation in another gene on chromosome 18q may be mutated in cases of osteosarcoma. Osteosarcoma is a feature of Li-Fraumeni syndrome-2 (609265) caused by mutation in the CHEK2 gene (604373). Sporadic osteosarcoma has also been associated with mutations in the CHEK2 gene (604373.0005). Osteosarcoma is a component of the acronymically designated OSLAM syndrome (165660).

ABREVIATION(S):
OSRC

TYPE: ocular cancer

Related patway(s): DNA damage response (DDR)

DNAtraffic protein(s) related to disease: CHEK2 (CHK2), TP53

OMIM: 259500

Last modification date: July 28, 2011