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ID3 has emerged as a gene with a strong association to Burkitt lymphoma, as multiple studies report recurrent mutations in this gene in both adult and childhood cases. The evidence spans case reports, series, and multi‑patient studies, collectively establishing its clinical relevance in the disease pathology (PMID:28801451, PMID:32947237).
Genetic analysis shows that somatic mutations in ID3 are observed in a significant proportion of Burkitt lymphoma cases. Notably, multi‑patient sequencing studies have reported that ID3 mutations occur in approximately 34% of tumors (PMID:23143597), confirming the gene’s role in oncogenesis in this malignancy. Evidence from several independent cohorts further supports the mutation spectrum, which includes loss‑of‑function alterations that disrupt its normal regulatory function in cell cycle control.
The inheritance mode for these alterations is best characterized as somatic. Although familial segregation is not a typical feature in Burkitt lymphoma, the repeated independent identification of pathogenic ID3 variants across different studies highlights the gene’s impact on tumor biology. In a representative report, a single coding variant was described as c.123A>T (p.Lys41Asn), serving as an illustrative example of the mutational spectrum encountered in these cases.
Segregation data in the context of cancer are inherently limited due to the sporadic nature of the mutations; however, the convergent findings from independent cohorts and multi‑patient studies provide consistent and robust evidence. This lack of familial segregation does not diminish the strength of the genetic association, given that the mutations arise in the tumor cells rather than through inherited germline transmission.
Functional studies have provided supportive data demonstrating that loss of normal ID3 function results in dysregulation of cell cycle progression and enhanced proliferative signaling. Experimental models have shown that abrogation of ID3 activity leads to molecular alterations that recapitulate key features of Burkitt lymphoma, thereby complementing the genetic evidence. These data substantiate a contributory role for ID3 alterations in driving disease progression (PMID:24222112).
Importantly, no conflicting evidence has been reported that would dispute the pathogenic role of ID3 mutations in Burkitt lymphoma. The convergence of genetic and functional data across independent studies reinforces the clinical utility of incorporating ID3 status in diagnostic decision‑making, risk stratification, and potential therapeutic targeting.
Key take‑home: The strong evidence linking somatic ID3 mutations to Burkitt lymphoma underscores its value as a diagnostic and prognostic biomarker, guiding both clinical management and future research endeavors.
Gene–Disease AssociationStrongMultiple independent studies, including multi‑patient sequencing and case series, report recurrent somatic ID3 mutations in Burkitt lymphoma (PMID:23143597, PMID:28801451). Genetic EvidenceStrongID3 mutations, including loss‑of‑function variants, have been observed in a significant subset (~34%) of tumors, supporting a robust contribution to oncogenesis in Burkitt lymphoma (PMID:23143597). Functional EvidenceModerateExperimental models demonstrate that ID3 disruption leads to dysregulated cell cycle progression and proliferation, corroborating its pathogenic role in Burkitt lymphoma (PMID:24222112). |