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The association between S100P (HGNC:10504) and lung cancer (MONDO_0008903) has been explored through multiple clinical studies and functional assessments. Two independent investigations have highlighted S100P as a key gene dysregulated in lung cancer, suggesting its potential as a diagnostic biomarker. Evidence spans from large-scale meta-analyses to targeted clinical validation studies, collectively providing a robust basis for the gene‑disease association. The studies utilized diverse patient cohorts, which strengthens the overall clinical validity of the findings. This narrative integrates both clinical and experimental data to support diagnostic decision‑making and commercial applicability.
A meta‑analysis published in 2010 examined cDNA array data from 688 lung tumor patients and 205 controls (PMID:20332665). In this study, S100P was one of the subset of 1,206 genes found to be dysregulated in lung cancer, and it was reproducibly reported in multiple independent transcriptomic analyses. The consistency of this gene’s expression changes across several studies provides evidence at the population level. These observations, reported in a high‑impact translational research context, underscore its potential role in the molecular pathology of lung cancer. The meta‑analysis results offer an expansive view, indicating that S100P may contribute to the oncogenic process through regulatory dysregulation.
A subsequent study published in 2007 further validated the clinical relevance of S100P by identifying it as one of the potential diagnostic markers for non‑small cell lung cancer (PMID:17671213). This work involved a bioinformatics analysis combined with experimental validation in clinical specimens. Although the study evaluated a panel of genes, S100P consistently emerged as a gene of interest with robust expression differences between tumor and normal tissues. The clinical validation lends additional support to the gene‑disease association, emphasizing that S100P could serve as a reliable biomarker in a diagnostic setting. The reproducibility of these findings across independent cohorts reinforces the strength of the association.
While no specific pathogenic coding variants of S100P have been reported in these clinical studies, the genetic evidence is derived from the reproducible differential expression observed in lung cancer tissues. The absence of a defined HGVS‑coded variant does not diminish the diagnostic relevance of S100P; rather, it highlights that alterations in gene expression may be the primary mechanism linking S100P to lung cancer. Consequently, the genetic evidence is rated as limited because the association is based on expression patterns and not on discrete variant alterations. Nonetheless, the consistency in the gene’s dysregulation provides a measurable criterion that supports its clinical significance. This distinction is critical for understanding the mechanism of association as compared to classical variant‑driven disorders.
Functional studies further bolster the pathogenic association by elucidating mechanisms that could underlie S100P’s role in cancer. In particular, a study published in 2009 characterized a permanently active mutant of S100P, termed S100P pa (PMID:19111582). This mutant, locked in an active conformation, demonstrated aberrant binding to ezrin even in the absence of calcium, thereby suggesting a gain‑of‑function effect that may enhance oncogenic signaling pathways. The functional assays with the active mutant provide a mechanistic framework that is concordant with the observed dysregulation in lung tumor specimens. Such experimental evidence, linking altered protein function to cellular processes relevant in cancer, adds a crucial layer of support to the overall association.
In summary, the converging lines of clinical and functional evidence indicate a strong association between S100P expression and lung cancer. The gene is consistently identified in large‐scale meta‑analyses and validated in independent clinical studies, while functional assessments of a constitutively active mutant offer plausible mechanistic insights. Although specific pathogenic coding variants have not been described, the dysregulation of S100P at the expression level is sufficiently robust to support its use in diagnostic and commercial applications. Key take‑home message: S100P represents a promising biomarker for lung cancer, with both clinical and functional data underscoring its potential in precision oncology.
Gene–Disease AssociationStrongS100P has been repeatedly identified as dysregulated in lung cancer across independent meta‑analysis and clinical validation studies with large patient cohorts (PMID:20332665, PMID:17671213). Genetic EvidenceLimitedThe evidence is based on differential expression patterns rather than discrete pathogenic coding variants. Functional EvidenceModerateFunctional assays, including the analysis of a constitutively active S100P mutant, demonstrate altered protein interactions that may contribute to oncogenic signaling (PMID:19111582). |