SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE We developed and validated a microsimulation model to assess the effectiveness of colonoscopy (COL), flexible sigmoidoscopy (FS), high-sensitivity guaiac fecal occult blood-test (HS-gFOBT), fecal immunochemical test (FIT), multitarget stool DNA test (FIT-DNA), computed tomography colonography (CTC), and methylated SEPT9 DNA test (SEPT9) in terms of CRC incidence and mortality, incremental life years gained (LYG), number of colonoscopies, and adverse events for men and women 50 years or older over their lifetime. 31777197 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Seventy-three percent of CRC patients were <sup>m</sup>SEPT9-positive at 94.5% specificity, and 17.1% of patients with intestinal polyps and adenoma were <sup>m</sup>SEPT9-positive at 94.5% specificity, which were higher than FOBT for the screening of CRC. 31088406 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Both SEPT9 and SDC2 were shown by ColoDefense to be heavily methylated in CRC tissues when compared to paired paracancerous tissues and HP (P < .01). 31407497 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 PosttranslationalModification disease BEFREE In comparison with healthy subjects, the pooled sensitivity with 95% confidence intervals (CIs) of SEPT9 methylation for the diagnosis of CRC was 0.74 (95% CI: 0.61-0.84) in the 1/3 algorithm group, whereas the specificity was 0.96 (95% CI: 0.95-0.97) in the 2/3 algorithm group. 30488278 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE <i>TP53, KRAS, APC</i>) has limited diagnostic sensitivity (40-60%), however, methylated DNA including <i>SEPT9, SFRP1, SDC2</i> can be applied with higher sensitivity (up to 90%) for CRC.Circulating miRNAs (e.g. miR-21, miR-92, miR-141) provide comparably high sensitivity for CRC as the circulating tumor cell mRNA markers (e.g.EGFR, CK19, CK20, CEA). 31046485 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Diagnostic Value and Clinical Significance of Methylated SEPT9 for Colorectal Cancer: A Meta-Analysis. 31378778 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Methylated Septin 9 and Carcinoembryonic Antigen for Serological Diagnosis and Monitoring of Patients with Colorectal Cancer After Surgery. 31316143 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Apart from SEPT9, other methylated biomarkers including tachykinin-1 (TAC1), somatostatin (SST), and runt-related transcription factor 3 (RUNX3) have been shown to effectively detect CRC in a multitude of sample types. 30944663 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE This includes a discussion of septin-9 (<i>SEPT9</i>) DNA hypermethylation for detecting colorectal cancer, which is by far the most developed epigenetic biomarker assay. 29614786 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Target sequences were selected from Sept9 promoter region as its hypermethylation is demonstrated as a reliable biomarker of colorectal cancer. 30215606 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 PosttranslationalModification disease BEFREE Advance in plasma SEPT9 gene methylation assay for colorectal cancer early detection. 29375744 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE With the exception of SEPT9 which is currently being implemented as a screening test for CRC all other markers lacked reproducibility and standardization and were studied in relatively small population samples. 30022330 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE This study aims to investigate the significance of the clinicopathological factors on methylated SEPT9 performance in a symptomatic endoscopy cohort, with a specific focus on colorectal cancer. 30223720 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Target sequences were selected from Sept9 promoter region that its hypermethylation is demonstrated as a reliable biomarker of colorectal cancer. 30278898 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 PosttranslationalModification disease BEFREE Herein, we tested whether combined use of APC, IGF2, MGMT, RASSF1A, and SEPT9 promoter methylation might accurately detect CRC irrespective of molecular subtype. 29486770 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE In the present study, we investigated SEPT9 and SHOX2 ccfDNA methylation as auxiliary pre and post-therapeutic staging parameters in CRC patients. 29610456 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Cell-Free Circulating Methylated SEPT9 for Noninvasive Diagnosis and Monitoring of Colorectal Cancer. 29849824 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE The test comprises a qualitative assay for the polymerase chain reaction (PCR) detection of methylated Septin9 DNA, the presence of which is associated with colorectal cancer: however, positive results should be verified by colonoscopy or sigmoidoscopy. 28155091 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 PosttranslationalModification disease BEFREE This study aims to examine the influence of algorithm and subject-related factors, including cancer stage, age, sex, and cancer location, on the performance of the SEPT9 gene methylation test, an assay approved by the US FDA for colorectal cancer (CRC) screening. 28224298 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE This meta-analysis aims to review the SEPT9 assay performance and compare it with other IVD CRC screening tests. 28596563 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE The Relationship between the Methylated Septin-9 DNA Blood Test and Stool Occult Blood Test for Diagnosing Colorectal Cancer in Taiwanese People. 27390118 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE ROC curves show that the areas under the curves of ADD2 and AKR1B1 are higher than that of SEPT9, which has been clinically used as a screening biomarker of CRC. 27493446 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE The USPSTF reviewed the evidence on the effectiveness of screening with colonoscopy, flexible sigmoidoscopy, computed tomography colonography, the guaiac-based fecal occult blood test, the fecal immunochemical test, the multitargeted stool DNA test, and the methylated SEPT9 DNA test in reducing the incidence of and mortality from colorectal cancer or all-cause mortality; the harms of these screening tests; and the test performance characteristics of these tests for detecting adenomatous polyps, advanced adenomas based on size, or both, as well as colorectal cancer. 27304597 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Detection of Colorectal Cancer Using a Simplified SEPT9 Gene Methylation Assay Is a Reliable Method for Opportunistic Screening. 27133379 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE These findings show that hypermethylation markers in blood are highly sensitive and specific for CRC detection, with methylated SEPT9 being particularly robust. 27158984 2016