Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
ADGRF1, also known as GPR110, has been implicated in the pathogenesis of lung cancer. Multiple independent studies support its role as a potential oncogene through overexpression in tumor tissues, suggesting that its aberrant activity may contribute to malignant transformation (PMID:20149256).
In a key study, immunohistochemical analysis revealed that ADGRF1 was overexpressed in 20 of 27 lung adenocarcinoma tissue cores, establishing a strong association with lung cancer phenotypes (PMID:20149256). This clinical evidence is complemented by in silico analyses of lung cancer datasets that reinforce the differential expression of ADGRF1 in diseased versus normal tissues (PMID:26124566).
Although direct coding sequence variants were not reported in these studies, the genetic evidence is accrued from robust expression profiling in cancer tissues. The observed overexpression across independent cohorts substantiates the relevance of ADGRF1 dysregulation in lung cancer development (PMID:20149256, PMID:26124566).
Complementary functional studies have identified multiple splice variants of ADGRF1. These alternative transcripts, as demonstrated in splice variant analyses, alter the receptor’s structure by producing truncated isoforms that lack the canonical seven‑span transmembrane domain, potentially affecting cell signaling and protein localization (PMID:17056209).
Mechanistic investigations suggest that the pathogenicity of ADGRF1 in lung cancer may be mediated by gene overexpression and aberrant splicing that result in the production of secreted or mislocalized protein isoforms. Such changes can disrupt normal signaling pathways, ultimately favoring oncogenic processes.
The convergence of clinical overexpression data, supportive in silico analyses, and functional splice variant evidence culminates in a strong gene-disease association between ADGRF1 and lung cancer. Although further studies, including detailed variant analyses, could enhance the evidence base, the current data robustly support the clinical utility of ADGRF1 as a potential biomarker and therapeutic target in lung cancer.
Key take‑home sentence: ADGRF1’s consistent overexpression and functionally disruptive splice variants in lung cancer underscore its promise in informing diagnostic decision‑making and guiding targeted interventions.
Gene–Disease AssociationStrongOverexpression in 20 of 27 lung adenocarcinoma tissue cores ([PMID:20149256]) and consistent in silico data ([PMID:26124566]) along with supportive functional splice variant evidence ([PMID:17056209]). Genetic EvidenceModerateObservational expression data across independent studies underline differential regulation of ADGRF1 in lung cancer despite the lack of specific coding variants. Functional EvidenceModerateFunctional studies have demonstrated the presence of alternative splice variants that alter protein localization and may disrupt signaling, supporting a mechanistic role in tumorigenesis ([PMID:17056209]). |