AQP8 and Colorectal Cancer

In a series of independent gene expression studies, AQP8 (HGNC:642) has been identified as a core gene associated with colorectal cancer (MONDO_0005575). Analysis of multiple datasets revealed that AQP8 is differentially expressed in tumor tissues compared to normal colorectal mucosa, suggesting its potential role in disease pathogenesis (PMID:32462020). AQP8 was consistently selected among a panel of core genes in a study that integrated three GEO expression profiles, highlighting its diagnostic potential (PMID:32462020). In another independent microarray analysis, AQP8 emerged as one of ten candidate genes predictive of colorectal cancer risk with high classification accuracy (PMID:28229027).

Furthermore, data from a study evaluating the impact of DNAH7 mutations on immune checkpoint inhibitor efficacy in colorectal cancer also flagged AQP8 as a top key gene, reinforcing its association with cancer biology (PMID:36660654). Although specific pathogenic variants in AQP8 have not been reported, the converging evidence from these multi-patient studies supports its candidacy as a molecular marker. Additional functional studies are warranted to clarify its mechanistic role in tumorigenesis and to explore its utility in diagnostic risk modeling.

References

• BioMed Research International • 2020 • Identification and Verification of Core Genes in Colorectal Cancer PMID:32462020
• PeerJ • 2017 • Risk analysis of colorectal cancer incidence by gene expression analysis PMID:28229027
• Annals of Translational Medicine • 2022 • DNAH7 mutations benefit colorectal cancer patients receiving immune checkpoint inhibitors PMID:36660654

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