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The association between EI24 and osteosarcoma is supported by limited evidence derived from a single case study that implemented integrated whole exome and transcriptome sequencing (PMID:25496518). In this study, a broad range of somatic variants were identified in the tumor tissue, including a candidate variant (c.123A>T (p.Lys41Asn)), which implicates EI24 in the tumorigenic process. Although the genetic data suggest that alterations in EI24 may contribute to osteosarcoma pathogenesis, the evidence is limited by the absence of additional probands or segregation analyses and a lack of independent replication. The inheritance mode appears to be somatic given the context of tumor-specific mutations, and no affected relatives were reported. The study also highlighted the involvement of key signaling pathways such as WNT/β-catenin and TP53, with EI24 being a downstream effector; however, direct functional assays for EI24 were not performed. This integrated genomic approach provides an early indication of EI24’s potential role in osteosarcoma, yet further validation is essential.
While preliminary pathway analyses hint at a tumor suppressor role for EI24 via potential loss-of-function mechanisms, functional evidence remains sparse. The study’s reliance on a single osteosarcoma case and the absence of detailed mechanistic experiments restricts the current clinical utility of this association. In conclusion, the available data suggest a possible involvement of EI24 in osteosarcoma, but additional genetic replication and direct functional studies are required before it can be confidently integrated into diagnostic or therapeutic decision-making. Key take‑home: EI24 emerges as a potential biomarker for osteosarcoma that warrants further investigation through expanded cohorts and robust experimental validation.
Gene–Disease AssociationLimitedBased on a single osteosarcoma case (PMID:25496518) with integrative genomic evidence that lacks replication and extensive segregation data. Genetic EvidenceLimitedThe detection of multiple somatic variants, including the candidate variant c.123A>T (p.Lys41Asn), in one proband provides minimal genetic evidence for an association. Functional EvidenceLimitedAlthough pathway analyses suggest a potential role for EI24 in tumor suppression via TP53-related signaling, direct functional studies have not been performed. |