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Analysis of SDC2 gene promoter methylation in whole blood for noninvasive early detection of colorectal cancer

1 Department of Internal Medicine, Amiralam Hospital, Tehran University of Medical Sciences, Tehran, Iran
2 Department of Rheumatology and Internal Medicine, Rheumatology Research Center, Amir-Alam Hospital, Tehran University of Medical Sciences, Tehran, Iran
3 Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran
4 Department of Applied Cell Sciences, Faculty of Medicine, Kashan University of Medical Sciences, Kashan, Iran
5 School of Medicine, Aja University of Medical Science, Tehran; Department of Medical Genetics, Isfahan University of Medical Sciences, Isfahan, Iran
6 Department of Medical Genetics, Semnan University of Medical Sciences; Abnormal Uterine Bleeding Research Center, Semnan University of Medical Sciences, Semnan, Iran

Correspondence Address:
Mohsen Soosanabadi,
Department of Medical Genetics, Semnan University of Medical Sciences, Semnan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcrt.jcrt_1072_22

Objectives: Considering the limitations of the current approaches to colorectal cancer (CRC) screening, scientists strived to find noninvasive and more powerful biomarkers for the early diagnosis of CRC. Nowadays, there are different sources of biomarkers for CRC diagnosis. Blood-based samples including circulating cell-free tumor DNA (ctDNA) and DNA extracted from leukocytes in peripheral blood might be promising sources of noninvasive cancer biomarkers such as cancer-specific methylation patterns. In this study, we aimed to evaluate the noninvasive early diagnosis of CRC via quantitative promotor methylation analysis of SDC2 gene in whole blood. Materials and Methods: Sixty-five CRC patients and 65 healthy participants were enrolled to assess promoter methylation of SDC2 gene in whole blood using the methylation quantification endonuclease-resistant DNA (MethyQESD) technique. Results: Our findings demonstrated drastic hypermethylation of SDC2 in blood samples from CRC subjects (37.91%) compared with non-malignant individuals (17.02%) (P < 0.001). The sensitivity for detection of CRC by methylation of SDC2 was 81.54%, with a specificity of 69.23%. The ROC curve analysis demonstrated that the AUC was 0.847 (P < 0.001), indicating that the status of SDC2 promoter methylation in whole blood is an excellent biomarker of CRC diagnosis. Furthermore, our results showed that methylation level in CRC patients significantly increased in higher tumor stages, demonstrating that an increased percentage of methylation is correlated with tumor progression (P < 0.001). Conclusion: SDC2 promoter methylation status in blood samples is a valuable cancer biomarker and holds high power and accuracy in distinguishing CRC patients from healthy subjects in the early stages of the disease.

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