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TNFRSF11A – Osteosarcoma

TNFRSF11A encodes the receptor activator of NF-κB (RANK). Comprehensive mutation screening in 1 Pagetic osteosarcoma and 6 osteosarcoma cell lines revealed no TNFRSF11A coding sequence variants in any sample ([PMID:11351498]). Loss of heterozygosity at the PDB/FEO critical region on chromosome 18q21-22 was noted in several osteosarcoma specimens, suggesting regional involvement but not implicating TNFRSF11A directly ([PMID:11351498]). These data refute a direct role for TNFRSF11A mutations in osteosarcoma pathogenesis.

References

  • Calcified tissue international • 2001 • Mutation screening of the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma. PMID:11351498

Evidence Based Scoring (AI generated)

Gene–Disease Association

Refuted

Mutation screening in 7 osteosarcoma samples identified no TNFRSF11A variants ([PMID:11351498]).

Genetic Evidence

Refuted

No TNFRSF11A coding sequence variants detected in primary osteosarcoma or cell lines ([PMID:11351498]).

Functional Evidence

Limited

Loss of heterozygosity at the TNFRSF11A locus observed in osteosarcomas suggests regional involvement without direct gene alteration ([PMID:11351498]).