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GENE:

SEPTIN9 (Septin 9)

i
Other names: SEPTIN9, Septin 9, Ov/Br Septin, MLL Septin-Like Fusion Protein MSF-A, Ovarian/Breast Septin, Septin D1, Septin-9, KIAA0991, AF17q25, PNUTL4, SeptD1, SEPT9, MSF1, MSF, MLL Septin-Like Fusion Protein, MLL Septin-Like Fusion, SEPTIN9, SINT1, NAPB
Associations
4d
Performance of DNA methylation and blood-borne tumor indicators in detecting colorectal neoplasia and adenomas: a comparative study with the fecal occult blood test. (PubMed, Front Oncol)
The combined form of mSEPT9 and mSDC2 to detect colorectal neoplasia has good predictive performance. However, none of these indicators demonstrated significant predictive power for detecting adenomas in our study.
Journal • Epigenetic controller
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CEACAM5 (CEA Cell Adhesion Molecule 5) • CA 19-9 (Cancer antigen 19-9) • SDC2 (Syndecan 2) • SEPTIN9 (Septin 9)
6d
The Evidence Base for Circulating Tumor DNA-Methylation in Non-Small Cell Lung Cancer: A Systematic Review and Meta-Analysis. (PubMed, Cancers (Basel))
Significant heterogeneity across the included studies, the potential publication bias for specificity (p = 0.0231), and the need to validate the clinical utility of ctDNA methylation for monitoring treatment response and predicting outcomes in NSCLC patients represent the main limitations of this study. These results provide evidence of the significant potential of ctDNA methylation as a valuable biomarker for improving the diagnosis of NSCLC, advocating for its integration into clinical practice to enhance patient management.
Retrospective data • Review • Journal • Circulating tumor DNA • Epigenetic controller
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SOX17 (SRY-Box Transcription Factor 17) • RASSF1 (Ras Association Domain Family Member 1) • SEPTIN9 (Septin 9)
24d
A study of the clinical significance of mSEPT9 in monitoring recurrence and prognosis in patients with surgically treated colorectal cancer. (PubMed, PLoS One)
The detection of mSEPT9 combined with CEA in preoperative plasma helps predict recurrence in colorectal cancer patients.
Journal
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CEACAM5 (CEA Cell Adhesion Molecule 5) • SEPTIN9 (Septin 9)
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CEACAM5 expression
1m
Disrupting CENP-N mediated SEPT9 methylation as a strategy to inhibit aerobic glycolysis and liver metastasis in colorectal cancer. (PubMed, Clin Exp Metastasis)
This study identifies a novel pathway where CENP-N-mediated methylation of SEPT9 drives metabolic reprogramming and metastasis in CRC. These findings suggest potential therapeutic targets for inhibiting CRC progression and liver metastasis, offering new insights into CRC pathogenesis.
Journal
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SEPTIN9 (Septin 9)
2ms
DNA methylation analysis of the SDC2, SEPT9 and VIM genes in fecal DNA for colorectal cancer diagnosis. (PubMed, BMC Cancer)
Our study identified a set of key methylation sites for colorectal cancer diagnosis from fecal samples, highlighting the importance of using tissue and fecal samples to accurately assess DNA methylation levels to screen for methylation sites, and developing an effective diagnostic model for colorectal cancer.
Journal • Epigenetic controller
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SDC2 (Syndecan 2) • SEPTIN9 (Septin 9)
2ms
SEPT9_i1 and Septin Dynamics in Oncogenesis and Cancer Treatment. (PubMed, Biomolecules)
In this review, we highlight SEPT9's and SEPT9_i1's structures and interactions with Hypoxia Inducible Factor α (HIF-1 α) and C-Jun N-Terminal Kinase (JNK), as well as discuss SEPT9_i1's contribution to aneuploidy, cell invasiveness, and taxane resistance-key phenomena in the progression of malignancies. Finally, we emphasize forchlorfenuron and other septin inhibitors as potential chemotherapeutics and migrastatics.
Review • Journal
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HIF1A (Hypoxia inducible factor 1, alpha subunit) • MAPK8 (Mitogen-activated protein kinase 8) • SEPTIN9 (Septin 9)
2ms
Predictive nomogram of the clinical outcomes of colorectal cancer based on methylated SEPT9 and intratumoral IL-10+ Tregs infiltration. (PubMed, J Transl Med)
The combination risk model of peripheral mSETP9 and intratumoral IL-10+ Treg infiltration in CRC can effectively predict prognosis, responsiveness to 5-FU-based chemotherapy and PD-1 blockade, and the probability of recurrence or metastasis. Therefore, this model can be used for precision treatment of CRC.
Clinical data • Journal • PD(L)-1 Biomarker • IO biomarker
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IL10 (Interleukin 10) • SEPTIN9 (Septin 9)
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5-fluorouracil
2ms
Advances in blood DNA methylation-based assay for colorectal cancer early detection: a systematic updated review. (PubMed, Gastroenterol Hepatol Bed Bench)
Enhancing sensitivity and specificity of molecular screening methods is crucial for improving CRC detection. Identifying a select few valuable biomarkers is key to reducing costs, despite challenges posed by low ctDNA levels in plasma, particularly in early-stage cancers.
Review • Journal • Epigenetic controller
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GFRA1 (GDNF Family Receptor Alpha 1) • SFRP1 (Secreted frizzled related protein 1) • SDC2 (Syndecan 2) • SEPTIN9 (Septin 9) • SFMBT2 (Scm Like With Four Mbt Domains 2) • ZFHX4 (Zinc Finger Homeobox 4)
2ms
Evaluation of Multigene Methylation for Blood-Based Detection of Colorectal Cancer. (PubMed, Genet Test Mol Biomarkers)
Correlation analysis found that the positive rate of the test was not affected by patients' clinicopathologic characteristics. The combination of methylated Septin9, SDC2, KCNQ5, and IKZF1 tests is preferable to individual gene tests for patients with CRC and polyp.
Journal
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IKZF1 (IKAROS Family Zinc Finger 1) • CEACAM5 (CEA Cell Adhesion Molecule 5) • SDC2 (Syndecan 2) • SEPTIN9 (Septin 9)
2ms
The value of SDC2 and Septin9 combined with serum tumor markers in early diagnosis of colorectal cancer. (PubMed, Int J Colorectal Dis)
The detection of SDC2 exhibits high sensitivity for colorectal cancer, and when combined with Septin9, it significantly enhances the diagnostic accuracy for early-stage colorectal cancer, offering substantial clinical value.
Journal
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CEACAM5 (CEA Cell Adhesion Molecule 5) • MUC16 (Mucin 16, Cell Surface Associated) • CA 19-9 (Cancer antigen 19-9) • SDC2 (Syndecan 2) • SEPTIN9 (Septin 9)
2ms
The mechanisms and drug therapies of colorectal cancer and epigenetics: bibliometrics and visualized analysis. (PubMed, Front Pharmacol)
It is closely integrated with clinical practice, and the possible research directions and challenges in the future are proposed. This study reviews the current research trends and hotspots in CRC and epigenetics, which can promote the development of this field and provide references for researchers in this field.
Review • Journal
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SEPTIN9 (Septin 9)
2ms
Screening value of methylated Septin9 and lymphocyte-to-monocyte ratio in colorectal cancer. (PubMed, Medicine (Baltimore))
When the cutoff values of mSEPT9 and LMR were taken as 43.835 and 3.365, the sensitivity and specificity of this combination reached 82.3% and 84.6%, respectively. Our findings suggest that LMR and mSEPT9 differ in non-tumor group and CRC groups with different subtypes and stages, LMR with mSEPT9 combination can further improve sensitivity, and the novel predictive nomogram for CRC based on LMR and mSEPT9 can be further promoted.
Retrospective data • Journal
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SEPTIN9 (Septin 9)
3ms
SEPT9: From pan-cancer to lung squamous cell carcinoma. (PubMed, BMC Cancer)
This is the first study to systematically analyze the role of SEPT9 in cancers and innovatively apply the mitotic spindle-associated model to LUSC, fully demonstrating its potential as a valuable biomarker for cancer screening and prognosis, and highlighting its application value in promoting immunotherapy and chemotherapy, particularly for LUSC.
Journal • IO biomarker • Pan tumor
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FAM83D (Family With Sequence Similarity 83 Member D) • HSF1 (Heat Shock Transcription Factor 1) • SEPTIN9 (Septin 9)
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Zolinza (vorinostat)
3ms
BET degrader exhibits lower antiproliferative activity than its inhibitor via EGR1 recruiting septins to promote E2F1-3 transcription in triple-negative breast cancer. (PubMed, Pharmacol Res)
This elevation of EGR1 subsequently recruited septin 2 and septin 9 to E2F1-3 promoters, enhancing E2F1-3 transcription and promoting cell proliferation rate in vitro and in vivo. Our findings provide valuable insights into differential mechanisms of BET inhibition and highlight potential of developing BET-targeting molecules as therapeutic strategies for TNBC.
Journal
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AR (Androgen receptor) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • BRD4 (Bromodomain Containing 4) • E2F1 (E2F transcription factor 1) • EGR1 (Early Growth Response 1) • SEPTIN9 (Septin 9)
3ms
Utilization of Patient Counseling to Increase Colorectal Cancer Screening Rates in an Internal Medicine Resident Continuity Clinic (ACG 2024)
Of the 45 patients who were counseled with the Epic SP, 31.1% of patients completed the recommended screening, but 68.8% did not complete the screening. Of the patient encounters where the Epic Smart phrase was not utilized, only 2.1% of patients completed the recommended screening test (p< 0.001). Of the patients who were counseled using the Epic Smart phrase, colonoscopy was the most common modality ordered, but Cologuard test had the highest rate of follow-up (70%).
Clinical
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SEPTIN9 (Septin 9)
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Cologuard®
4ms
Diagnostic efficacy of SEPT9 and PAX5 gene methylation in gastrointestinal cancer and precancerous lesions. (PubMed, Cell Mol Biol (Noisy-le-grand))
PAX5 gene methylation is closely related to age, while SEPT9 is closely related to tumor TNM stage, and PAX5 gene methylation can decrease the survival rate of GC patients. Detection of PAX5 gene methylation level can assist in evaluating the prognosis of GC patients.
Retrospective data • Journal
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PAX5 (Paired Box 5) • SEPTIN9 (Septin 9)
4ms
Septin 9 expression regulates 'don't eat me' signals and identifies an immune-epithelial class of intrahepatic cholangiocarcinoma. (PubMed, Mol Oncol)
It also brings new insights into the enigmatic relationship between EMT and immune response. Notably, we decoded a potential mechanism that could sensitize patients to immunotherapies.
Journal • IO biomarker
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IFNG (Interferon, gamma) • VIM (Vimentin) • SEPTIN9 (Septin 9)
4ms
A novel dual-target Septin9 methylation assay for improved detection of early-stage colorectal cancer and high-grade intraepithelial neoplasia. (PubMed, BMC Cancer)
ColonUSK indicated moderate diagnostic value and could become a non-invasive detection way for CRC. The implementation of the ColonUSK assay has the capacity to markedly enhance CRC screening practices.
Journal
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SEPTIN9 (Septin 9)
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Epi proColon®
4ms
Clinical diagnostic value of methylated SEPT9 combined with NLR, PLR and LMR in colorectal cancer. (PubMed, BMC Gastroenterol)
mSEPT9, NLR, PLR and LMR showed the potential to be reliable biomarkers for the diagnosis of CRC. And the combined application of these biomarkers further improved the diagnostic accuracy of CRC significantly.
Journal
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SEPTIN9 (Septin 9)
4ms
Diagnostic performances of methylated septin9 gene, CEA, CA19-9 and platelet-to-lymphocyte ratio in colorectal cancer. (PubMed, BMC Cancer)
This research revealed a significant association between mSEPT9 status and the clinicopathological characteristics of CRC patients, and the combination of mSEPT9, CEA, CA19-9 and PLR could significantly improve diagnostic efficacy in CRC.
Journal
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CA 19-9 (Cancer antigen 19-9) • SEPTIN9 (Septin 9)
4ms
Innovative Semi-Nested Realtime PCR Assay with Extendable Blocking Probe for Enhanced Analysis of SEPT9 Methylation in Colorectal Cancer. (PubMed, Biomedicines)
Its cost-efficiency and high sensitivity make it particularly suitable for the early detection and management of CRC, especially in settings with limited resources. Future studies are encouraged to validate this assay in larger populations to establish its clinical benefits and practical utility.
Journal
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SEPTIN9 (Septin 9)
4ms
Combined detection of SHOX2 and PTGER4 methylation with serum marker CYFRA21-1 for improved diagnosis of malignant pleural mesothelioma. (PubMed, J Clin Pathol)
The combined detection of SHOX2 and PTGER4 methylation alongside serum CYFRA21-1 level significantly enhances the diagnosis of MPM. Additionally, CYFRA21-1 can serve as a prognostic indicator for MPM.
Journal
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PTGER4 (Prostaglandin E Receptor 4) • SEPTIN9 (Septin 9) • SHOX2 (SHOX Homeobox 2)
4ms
Study on the specificity and sensitivity of combined detection of blood cfDNA methylation in the diagnosis of colorectal cancer (ChiCTR2400081245)
P=N/A, N=0, Not yet recruiting, Zhongshan Hospital Affiliated to Xiamen University; Xiamen Tengji Biotechnology Co., Ltd
New trial
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BCAT1 (Branched Chain Amino Acid Transaminase 1 ) • SEPTIN9 (Septin 9)
5ms
Pilot Study by Liquid Biopsy in Gastrointestinal Stromal Tumors: Analysis of PDGFRA D842V Mutation and Hypermethylation of SEPT9 Presence by Digital Droplet PCR. (PubMed, Int J Mol Sci)
Additionally, the results of Area Under the Curve (AUC) for the hypermethylated SEPT9 gene, analyzing concentration, ratio, and abundance were 0.74 (95% Confidence Interval (CI): 0.52 to 0.97), 0.77 (95% CI: 0.56 to 0.98), and 0.79 (95% CI: 0.59 to 0.99), respectively. As a rare disease, the early detection of GIST through such biomarkers is particularly crucial, offering significant potential to improve patient outcomes.
Journal • Liquid biopsy • Stroma • Biopsy
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • SEPTIN9 (Septin 9)
6ms
Dynamic Changes in Circulating Methylated Markers in Response to Antitumor Therapy of Rectal Cancer. (PubMed, J Gastrointest Cancer)
The results indicate that SEPTIN9, IKZF1, and LINE-1 methylation levels in the csb-cfDNA are potential markers of the effectiveness of antitumor therapy and early detection of relapse in RC patients.
Journal
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IKZF1 (IKAROS Family Zinc Finger 1) • SEPTIN9 (Septin 9)
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capecitabine • oxaliplatin
6ms
Circulating tumor DNA and its role in detection, prognosis and therapeutics of hepatocellular carcinoma. (PubMed, Chin J Cancer Res)
This article overviews many conditions in genetic changes linked to the onset and development of HCC, such as dysregulated signaling pathways, somatic mutations, single-nucleotide polymorphisms, and genomic instability. Additionally, efforts are also made to develop treatments for HCC that are molecularly targeted and to unravel some of the genetic pathways that facilitate its early identification.
Journal • Circulating tumor DNA
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CCND1 (Cyclin D1) • KMT2C (Lysine Methyltransferase 2C) • CDK6 (Cyclin-dependent kinase 6) • CCNA2 (Cyclin A2) • AXIN1 (Axin 1) • RASSF1 (Ras Association Domain Family Member 1) • SEPTIN9 (Septin 9)
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BRAF mutation • KRAS deletion • RASSF1 methylation
6ms
Detecting colorectal cancer using genetic and epigenetic biomarkers: screening and diagnosis. (PubMed, J Med Life)
Extensive trials and further investigation are required to translate genetic and epigenetic biomarkers into practical clinical use. biomarkers, diagnostic biomarkers.
Review • Journal
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VIM (Vimentin) • SDC2 (Syndecan 2) • SEPTIN9 (Septin 9)
7ms
The concerted action of SEPT9 and EPLIN modulates the adhesion and migration of human fibroblasts. (PubMed, Life Sci Alliance)
Conversely, decreased levels had the opposite effect. Our work thus establishes the interaction between SEPT9 and EPLIN as an important link between the septin and the actin cytoskeleton, influencing cell adhesion, motility, and migration.
Journal
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SEPTIN9 (Septin 9)
7ms
Circulating-tumour DNA methylation of HAND1 gene: a promising biomarker in early detection of colorectal cancer. (PubMed, BMC Med Genomics)
These findings highlight the potential of SEPT9 and HAND1 methylation as promising biomarkers for diagnosing CRC. However, further research and validation studies are needed to confirm these findings and to explore their clinical utility in CRC diagnosis and management.
Journal • Circulating tumor DNA • Epigenetic controller
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SEPTIN9 (Septin 9)
7ms
BCAT1, IKZF1 and SEPT9: methylated DNA biomarkers for detection of pan-gastrointestinal adenocarcinomas. (PubMed, Biomarkers)
Hypermethylated DNA biomarkers BCAT1, IKZF1 and SEPT9 were largely stable across different stages of disease and were highly selective for gastrointestinal adenocarcinomas relative to other cancer types. Existing CRC methylated ctDNA blood tests for BCAT1/IKZF1 and SEPT9 might be usefully repurposed for use in other gastrointestinal adenocarcinomas and warrant further prospective ctDNA studies.
Journal
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IKZF1 (IKAROS Family Zinc Finger 1) • BCAT1 (Branched Chain Amino Acid Transaminase 1 ) • SEPTIN9 (Septin 9)
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COLVERA™ • Epi proColon®
9ms
Detection of high grade intraepithelial neoplasia in colorectal cancer using a new blood-based multiplex septin9 methylation assay (AACR 2024)
The Kappa test value for this experiment was 0.76, indicating a high degree of consistency between ColonUSK and pathological diagnosis. Our results suggest that ColonUSK holds potential as a non-invasive screening tool for colorectal cancer.
Late-breaking abstract
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SEPTIN9 (Septin 9)
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Epi proColon®
9ms
Differential gene expression of colorectal cancer biomarkers in Hispanic individuals (AACR 2024)
The study's insights into the differential expression patterns of these biomarkers can inform targeted screening strategies. Further research is needed to assess their potential to enhance early tumor detection in Hispanics.
Clinical
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KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IGFBP2 (Insulin-like growth factor binding protein 2) • DKK3 (Dickkopf WNT Signaling Pathway Inhibitor 3) • GAPDH (Glyceraldehyde-3-Phosphate Dehydrogenase) • PKM (Pyruvate Kinase M1/2) • SEPTIN9 (Septin 9)
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Epi proColon®
9ms
Methylated ctDNA predicts early recurrence risk in patients undergoing resection of initially unresectable colorectal cancer liver metastases. (PubMed, Ther Adv Med Oncol)
Serial MetctDNA analysis showed that RFS was significantly lower in patients with no MetctDNA clearance compared with those with MetctDNA clearance (HR 26.05, 95% CI 4.92-137.81, p < 0.001). Our study confirmed that serial ctDNA analysis of NPY and SEPT9 gene methylation could effectively predict early recurrence in IU-CRLM patients, especially at POST and EOT.
Journal • Circulating tumor DNA
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SEPTIN9 (Septin 9)
9ms
CircSEPT9 promotes breast cancer progression by regulating PTBP3 expression via sponging miR-625-5p. (PubMed, Thorac Cancer)
circSEPT9 contributed to the malignant progression of BC by up-regulating PTBP3 via sponging miR-625-5p.
Journal
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CDH1 (Cadherin 1) • VIM (Vimentin) • MIR625 (MicroRNA 625) • SEPTIN9 (Septin 9)
9ms
The signature of cancer methylation markers in maternal plasma: Factors influencing the development and application of cancer liquid biopsy assay. (PubMed, Gene)
Our study shows that cancer and fetus/placenta exhibit similar DNA methylation patterns, and some gastrointestinal cancer and lung cancer-related methylation markers also show positives in maternal plasma. This is an important consideration in the design and application of plasma-based cancer liquid biopsy assays.
Journal • Liquid biopsy • Biopsy
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CLIP4 (CAP-Gly Domain Containing Linker Protein Family Member 4) • RASSF1 (Ras Association Domain Family Member 1) • PTGER4 (Prostaglandin E Receptor 4) • SDC2 (Syndecan 2) • SEPTIN9 (Septin 9) • SHOX2 (SHOX Homeobox 2)
10ms
Feasibility of Monitoring Response to Metastatic Prostate Cancer Treatment with a Methylation-Based Circulating Tumor DNA Approach. (PubMed, Cancers (Basel))
mSHOX2 and mSEPT9 exhibit dynamics on mPCA treatment. This proof-of-concept study lays the groundwork for further investigation into these markers as valuable additions to treatment response monitoring in mPCA. Further validation in larger cohorts is essential for establishing clinical utility.
Journal • Circulating tumor DNA • Metastases
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SEPTIN9 (Septin 9) • SHOX2 (SHOX Homeobox 2)
10ms
Epigenetics in the diagnosis and prognosis of head and neck cancer: A systematic review. (PubMed, J Oral Pathol Med)
Although initial promising results were seen using the epigenetic biomarkers in the early detection of HNSCC, the limited number of patients and the absence of well-designed longitudinal studies limit the clinical applicability of the outcomes.
Review • Journal
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HOXA9 (Homeobox A9) • SEPTIN9 (Septin 9) • TIMP3 (TIMP Metallopeptidase Inhibitor 3)
10ms
Evaluation of DNA methylation levels of SEPT9 and SHOX2 in plasma of patients with head and neck squamous cell carcinoma using droplet digital PCR. (PubMed, Oncol Rep)
The results highlighted: i) The ability of the ddPCR‑based assay to detect very low copies of methylated molecules; ii) the significant decrease in SEPT9 and SHOX2 methylation levels in the plasma of patients with HNSCC at the first time points of follow‑up with respect to T; iii) a different trend of longitudinally DNA methylation variations in small groups of stratified patients. The absolute and precise quantification of SEPT9 and SHOX2 methylation levels in HNSCC may be useful for studies with translational potential.
Journal • Epigenetic controller
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SEPTIN9 (Septin 9) • SHOX2 (SHOX Homeobox 2)
10ms
Association of Methylenetetrahydrofolate Reductase rs1801133 Gene Polymorphism with Cancer Risk and Septin 9 Methylation in Patients with Colorectal Cancer. (PubMed, J Gastrointest Cancer)
In conclusion, individuals harboring the MTHFR rs1801133 CC genotype had a higher risk of CRC and the MTHFR rs1801133 TT carriers were more susceptible to Septin 9 gene methylation.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase) • SEPTIN9 (Septin 9)
10ms
HARVEST: Adjuvant Systemic Chemotherapy With or Without HAI-FUDR in Patients With Resected CRLM (clinicaltrials.gov)
P3, N=92, Terminated, Sun Yat-sen University | N=288 --> 92 | Recruiting --> Terminated; The study was terminated prematurely due to FUDR production halt in China
Enrollment change • Trial termination
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SEPTIN9 (Septin 9)
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5-fluorouracil • oxaliplatin • irinotecan • leucovorin calcium
10ms
A novel microfluidic chip-based digital PCR method for enhanced sensitivity in the early diagnosis of colorectal cancer via mSEPT9. (PubMed, Clin Chim Acta)
Our accurate microfluidic chip-based dPCR method, especially in combination with CEA, holds promise for effective CRC screening and timely interventions, offering enhanced mSEPT9 quantification over conventional qPCR.
Journal
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CEACAM5 (CEA Cell Adhesion Molecule 5) • SEPTIN9 (Septin 9)
11ms
Septin9 DNA methylation is associated with breast cancer recurrence or metastasis. (PubMed, J Int Med Res)
Septin9 DNA methylation was an independent predictors of breast cancer prognostic risk. This could possibly help improve comprehensive prognosis prediction methods when combined with other risk factors.
Journal • Epigenetic controller
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PGR (Progesterone receptor) • SEPTIN9 (Septin 9)
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PGR expression