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This summary reviews the association between DEPTOR (HGNC:22953) and lung cancer (MONDO_0008903). In a recent integrative omic study of a never‑smoker female with squamous cell carcinoma of the lung, rare, private germline deleterious variants were identified in 11 cancer‐associated genes. Among these, DEPTOR was highlighted as a potential therapeutic target given its functional connection to established oncogenic drivers such as BRCA1 and EGFR (PMID:28546520).
Genetic evidence for the DEPTOR–lung cancer association remains limited. The study, based on a single family analysis comparing the affected case with an unaffected sibling, did not provide additional segregation data or replication in other cohorts. Furthermore, while DEPTOR is known to regulate mTOR signaling—a pathway implicated in tumorigenesis—no direct functional assays in lung cancer have been reported. Further research is needed to support the clinical utility of DEPTOR alterations in diagnostic decision‑making and personalized therapy.
Gene–Disease AssociationLimitedA single family‐based exome study in a never‑smoker female with lung squamous cell carcinoma identified a rare DEPTOR variant (PMID:28546520). Lack of multiple probands and robust segregation data limits the strength of the association. Genetic EvidenceLimitedEvidence is based solely on one study reporting a private oligogenic signature that includes DEPTOR, without replication in additional cohorts (PMID:28546520). Functional EvidenceLimitedNo direct functional studies in lung cancer were identified. While DEPTOR’s role in mTOR signaling is well established, its functional impact in lung tumorigenesis remains inferred. |