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ATAD2 is an ATPase and chromatin regulator whose dysregulation has been implicated in lung cancer based on multi‐patient genomic profiling studies. Its recurrent alteration across diverse lung cancer samples suggests that ATAD2 may contribute to tumorigenesis.
Genomic evidence from one study of 19 lung cancer cell lines and three lung tumor/normal pairs (PMID:23033341) revealed recurrent alterations in ATAD2. In a separate investigation of Brazilian non‑small‑cell lung cancer patients, novel germline variants in ATAD2 were identified exclusively in smoker patients (PMID:28968711), further supporting its role in lung cancer predisposition.
Although detailed segregation analysis was not provided, the observation of ATAD2 alterations in independent cohorts reinforces the clinical relevance of this gene in lung tumorigenesis. The lack of a clearly defined variant spectrum for ATAD2 in these studies suggests that additional work is needed to enumerate specific pathogenic changes.
The available genetic evidence, while robust in its identification of recurrent alterations across lung cancer samples, does not include a detailed functional evaluation. Direct experimental assays connecting ATAD2 dysregulation to oncogenic mechanisms in lung tissue remain limited, although the overall transcriptomic changes hint at a role in aberrant cell cycle control and malignant transformation.
Integrating the genetic findings with the limited functional data, the association between ATAD2 and lung cancer is supported by moderate evidence. Key take‑home sentence: The recurrent ATAD2 alterations across independent lung cancer datasets highlight its potential as a diagnostic biomarker and a target for future therapeutic strategies.
Gene–Disease AssociationModerateTwo independent studies identified recurrent ATAD2 alterations in lung cancer samples (19 cell lines and 3 tumor/normal pairs [PMID:23033341], plus novel germline variants in a Brazilian cohort [PMID:28968711]), supporting its role despite limited segregation data. Genetic EvidenceModerateGenomic profiling studies have demonstrated recurrent alterations in ATAD2 across multiple lung cancer cohorts, indicating a significant genetic contribution even though a detailed variant spectrum was not provided. Functional EvidenceLimitedDirect functional assays linking ATAD2 alterations to lung cancer pathogenesis are scarce; however, transcriptional profiling suggests that ATAD2 dysregulation may contribute to oncogenic processes. |