{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T15:58:46Z","timestamp":1786550326584,"version":"build-2736575974"},"reference-count":69,"publisher":"SAGE Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CBM"],"published-print":{"date-parts":[[2022,5,19]]},"abstract":"<jats:p>BACKGROUND: Investigating aberrant tumor-specific methylation in plasma cell-free DNA provides a promising and noninvasive biomarker for cancer detection. OBJECTIVE: We aimed to investigate methylation status of some promoter regions in the plasma and tumor tissues to find biomarkers for early detection of colorectal cancer. METHODS: This case-control study on seventy colorectal cancer patients and fifty matched healthy controls used Methylation-Specific High-Resolution Melting Curve analysis to evaluate the methylation of the selected promoter regions in converted genomic tissue DNA and plasma cfDNA. RESULTS: The methylation levels in selected regions of SPG20 (+24375 to +24680, +24209 to +24399, and +23625 to +23883), SNCA (+807 to +1013, +7 to +162, and -180 to +7), FBN1 (+223 to +429, +1 to +245, and -18 to -175), ITF2 (+296 to +436 and -180 to +55), SEPT9 (-914412 to -91590 and -99083 to -92264), and MLH1 (-13 to +22) were significantly higher in tumor tissues compared with normal adjacent tissues. The methylation levels of FBN1, ITF2, SNCA, and SPG20 promoters were significantly higher in the patient\u2019s plasma compared to patient\u2019s normal tissue and plasma of healthy control subjects. FBN1, SPG20, and SEPT9 promoter methylation had a good diagnostic performance for discriminating CRC tissues from normal adjacent tissues (AUC &gt; 0.8). A panel of SPG20, FBN1, and SEPT9 methylation had a higher diagnostic value than that of any single biomarker and other panels in tissue-based assay (AUC &gt; 0.9). The methylation of FBN1(a) and SPG20(a) regions, as the closest region to the first coding sequence (CDS), had a good diagnostic performance in plasma cfDNA (AUC &gt; 0.8) while a panel consisted of FBN1(a) and SPG20(a) regions showed excellent diagnostic performance for CRC detection in plasma cfDNA (AUC &gt; 0.9). CONCLUSION: Methylation of FBN1(a) and SPG20(a) promoter regions in the plasma cfDNA can be an excellent simple, non-invasive blood-based test for early detection of CRC.<\/jats:p>","DOI":"10.3233\/cbm-210315","type":"journal-article","created":{"date-parts":[[2021,12,21]],"date-time":"2021-12-21T12:20:02Z","timestamp":1640089202000},"page":"221-250","source":"Crossref","is-referenced-by-count":17,"title":["Methylation of FBN1, SPG20, ITF2, RUNX3, SNCA, MLH1, and SEPT9 genes in circulating cell-free DNA as biomarkers of colorectal cancer"],"prefix":"10.1177","volume":"34","author":[{"given":"Maryam","family":"Alizadeh-Sedigh","sequence":"first","affiliation":[{"name":"Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Sadegh","family":"Fazeli","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Colorectal Surgery, Imam Khomeini Medical Complex, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Habibollah","family":"Mahmoodzadeh","sequence":"additional","affiliation":[{"name":"Cancer Institute of Iran, Imam Khomeini Medical Complex, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahin Behrouz","family":"Sharif","sequence":"additional","affiliation":[{"name":"Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ladan","family":"Teimoori-Toolabi","sequence":"additional","affiliation":[{"name":"Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"2","key":"10.3233\/CBM-210315_ref2","first-page":"89","article-title":"Epidemiology of colorectal cancer: Incidence, mortality, survival, and risk factors","volume":"4","author":"Rawla","year":"2019","journal-title":"Przegla\u00cc\u009cd Gastroenterologiczny"},{"issue":"3","key":"10.3233\/CBM-210315_ref3","first-page":"209","article-title":"Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"71","author":"Sung","year":"2021","journal-title":"CA: A Cancer Journal for Clinicians"},{"issue":"2","key":"10.3233\/CBM-210315_ref5","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s11888-019-00432-4","article-title":"Current trends in colorectal cancer screening","volume":"15","author":"Bhatt","year":"2019","journal-title":"Current Colorectal Cancer Reports"},{"issue":"7","key":"10.3233\/CBM-210315_ref6","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1158\/1940-6207.CAPR-13-0407","article-title":"Validation of methylation biomarkers that distinguish normal colon mucosa of cancer patients from normal colon mucosa of patients without cancer","volume":"7","author":"Cesaroni","year":"2014","journal-title":"Cancer Prevention Research"},{"issue":"7","key":"10.3233\/CBM-210315_ref7","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1111\/apt.13556","article-title":"Systematic review with meta-analysis: faecal occult blood tests show lower colorectal cancer detection rates in the proximal colon in colonoscopy-verified diagnostic studies","volume":"43","author":"Hirai","year":"2016","journal-title":"Alimentary Pharmacology & Therapeutics"},{"key":"10.3233\/CBM-210315_ref8","doi-asserted-by":"crossref","unstructured":"H.M. 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