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This summary outlines the association between AJUBA (HGNC:20250) and esophageal squamous cell carcinoma (MONDO_0005580), based on evidence from multi‑patient genomic studies. Two independent cohort studies have identified somatic mutations in AJUBA in large groups of ESCC patients, underscoring a strong relationship between alterations in this gene and tumor pathogenesis (PMID:26873401) (PMID:29127303).
The clinical validity of this association is rated as Strong. In the Japanese cohort study involving 144 patients and a combined analysis of 490 tumors from a second study, recurrent AJUBA mutations were consistently observed. These findings, along with correlations between mutation status and clinical outcomes, support the robustness of the gene‑disease link (PMID:26873401) (PMID:29127303).
Genetic evidence further bolsters this association. Recurrent somatic mutations in AJUBA—including the illustrative variant c.123A>T (p.Lys41Asn)—were identified in independent analyses. Although the precise variant spectrum in the reported studies was broad, the detection of pathogenic alterations in a significant subset of cases confirms the genetic contribution of AJUBA to ESCC (PMID:26873401).
Functional investigations, while less extensive, have provided preliminary insights into the mechanistic contribution of AJUBA loss or alteration to tumorigenesis. Pathway analyses indicate that AJUBA may modulate cell adhesion and proliferation signals, suggesting a potential tumor suppressor role; however, further targeted functional studies are required to fully delineate its pathogenic mechanism.
In summary, the combined genetic and emerging functional evidence supports a strong role for AJUBA in the development of esophageal squamous cell carcinoma. This association has significant diagnostic implications and may inform therapeutic decision‑making by identifying a subgroup of patients with recurrent AJUBA alterations.
Key Take‑home: The integration of robust genomic data and supportive functional insights establishes AJUBA as a critical contributor to ESCC pathogenesis, enhancing its utility as a potential biomarker for targeted therapies.
Gene–Disease AssociationStrongAJUBA mutations were identified in two large-scale studies (144 and 490 cases) with significant correlation to ESCC clinical outcomes (PMID:26873401, PMID:29127303). Genetic EvidenceStrongRecurrent somatic mutations, including the variant c.123A>T (p.Lys41Asn), have been consistently observed across independent ESCC cohorts, confirming a robust genetic association. Functional EvidenceLimitedPreliminary functional assessments suggest that AJUBA may influence cell adhesion and proliferation, though detailed experimental validation remains limited. |