SEPTIN9 (Septin 9)

For genes examined in at least two papers, we summarized the reported accuracy measurements by presenting the average, minimum, and maximum values for each CpG group. This scoping review identifies a profound lack in the reporting of the CpG sites analyzed for non-invasive detection of CRC, which poses a challenge for the comparison of findings across studies.

This study establishes a minimally invasive, peripheral blood DNA methylation-based detection method for GC screening. The model demonstrates robustness, high sensitivity, and specificity, offering an effective strategy for population-level screening. The primary limitations of this study include the relatively small size of the validation cohort and a significant imbalance in TNM stage distribution. Additionally, there is a potential limitation in accurately discriminating gastric cancer risk within high-risk precancerous populations based solely on the current model. It is necessary to formulate a larger-scale prospective verification plan in the future.

In this study, SEPT9 overexpression was shown to contribute to the oncogenic phenotype of bladder cancer and could serve as a potential early-stage biomarker. Moreover, SEPT9 may offer new avenues for developing more effective targeted therapeutic approaches for bladder cancer. Future studies addressing this aspect will be important for better defining the role of SEPT9 across diverse bladder cancer contexts.

The mSEPT9 can be used as a sensitive and efficient indicator for CRC diagnosis and surgical efficacy evaluation, outperforming both CEA and CA19-9. A combined panel of mSEPT9, CEA, and CA19-9 was shown to achieve superior diagnostic performance compared to mSEPT9 alone. More significantly, our findings highlight the significant value of mSEPT9 in monitoring postoperative recurrence and metastasis in CRC patients. Specifically, mSEPT9 detection at one month after surgery could be an independent predictor, capable of predicting the recurrence or metastasis of CRC.

We developed and validated two ML-based models integrating Septin9 methylation with routine serum biomarkers for early detection and differentiation of CRC. These models show potential as non-invasive clinical decision-support tools to facilitate individualized risk assessment and support clinical management in patients undergoing evaluation for colorectal neoplasia.

Applied to plasma samples from patients with various tumors (including colorectal, lung, breast, cervical, liver, and gastric cancers), the technology significantly improved the detection rates up to 100% of tumor-specific methylation biomarkers, such as SDC2, SHOX2, RASSF1A, ZNF671, Septin9, and BMP3. Therefore, this study provides an efficient, universal and user-friendly enrichment and accurate detection of mDNA, laying a methodological foundation for early cancer screening and prognosis assessment.

Bisulfite conversion has higher DNA methylation levels for certain CRC biomarkers in tumor tissues, suggesting over-estimation of methylation that could affect biomarker specificity.

We also discuss the repurposing of the oral adsorbent AST-120 and emerging bacteriophage therapies as strategies to disrupt this oncogenic axis. This review offers a comprehensive framework for stratified management of CKD-associated CRC.

Clinicogenomic data reveal that SEPT9 amplification associates with lower genomic alteration in aggressive breast tumors and higher patient mortality. We propose that septins are a mechanoprotective element of the cytoskeleton, and SEPT9 amplification enhances tumor cell survival by preventing nuclear damage.

The electric fields enhance the electron transfer and amplify the electrochemiluminescence intensity, thereby achieving ultra-sensitive detection of the methylated Septin9 gene with a detection limit as low as 8.2 aM. Clinical sample validation using clinical serum samples from healthy controls (n = 100) and colon cancer patients (n = 100) has shown that the biosensor achieves comparable performance to the gold standard method in terms of both sensitivity and specificity, demonstrating equivalent detection efficacy to pyrosequencing.

This study demonstrates that tumor-specific DNA methylation changes, particularly when evaluated using multi-gene panels can enhance prognostic stratification in GC. These findings support the potential use of methylation-based biomarkers for personalized management of GC.