Diagnosis of Colorectal Cancer and Advanced Adenoma Using Cancer-specific Methylation Signatures

Colorectal cancer is a common malignant tumor of the digestive tract. It is still a challenging task to detect colorectal cancer at an early stage. Studies have found that DNA methylation has a relationship with the occurrence and development of tumors. Singlera Genomics Inc. has invented the proprietary methyl-Titan sequencing technology and developed a detection method for colorectal cancer and advanced adenoma (Adenoma/Colorectal cancer Early detection, ACE) using the cancer-specific methylation markers. ACE is a blood-based non-invasive diagnostic technique. It has high compliance rate compared with colonoscopy, and sampling is more convenient than stool testing. It also has much higher sensitivity compared to existing blood testing methods. The current study plans to use ACE method to analyze ctDNA in the blood for the cancer-specific DNA methylation markers to aid in the differential diagnosis of patients with colorectal cancer or adenoma. This technique will greatly reduce the discomfort in the diagnosis of suspected patients and improve the diagnosis of high-risk population of colorectal cancer. The goals of this study are: 1) to establish a detection system based on plasma ctDNA methylation sequencing technology for the auxiliary diagnosis of colorectal cancer and adenoma, 2) to assess the diagnostic value of plasma ctDNA methylation signature for colorectal cancer and adenoma, and 3) to assess the association of plasma ctDNA methylation signals with colonoscopy results and pathological results of surgical specimens. A total of 1300 patients (700 cases positive and 600 cases negative) aging between 45 and 80 years old will be enrolled. Colonoscopy will be performed to determine whether patients are positive or negative. Positive patients who need surgical resection will be further classified according to their surgical histopathological results. For negative patients, the type of lesion will be clarified. The plasma samples of all subjects will be analyzed for cancer-specific ctDNA methylation profiles. Based on the results of plasma ctDNA methylation test, the risks of colorectal cancer of the enrolled subjects are scored. Combined with the grouping information, the clinical application value of the cancer-specific methylation profile for early cancer diagnosis will be assessed.

Sex

All

Minimum age

45 Years

Maximum age

80 Years

Inclusion Criteria:

1. Age 45\~80 years old, gender is not limited, women are not in pregnancy and lactation;
2. Willing to accept a full colonoscopy;
3. The patients enrolled are newly diagnosed patients who did not receive surgery, radiotherapy, chemotherapy, targeted therapy or other tumor-related intervention;
4. The anticoagulant drugs such as warfarin, aspirin and Plavix were stopped for 1 week, and low molecular weight heparin was stopped on the same day;
5. No history of other cancer diseases, normal liver and kidney function;
6. No major trauma requiring blood transfusion treatment occurred within one week.

Exclusion Criteria:

1. Have had colorectal cancer or intestinal adenoma before;
2. Have other cancer history;
3. Previously undergoing a colon and rectal resection (except for sigmoid diverticulosis);
4. Patients with Lynch syndrome in the family;
5. History of severe cardiovascular disease (eg previous myocardial infarction, coronary artery bypass grafting or coronary stenting, history of congestive heart failure; myocardial infarction within 6 months, uncontrolled severe hypertension, etc.), or patients that the investigator determines not suitable for enrollment;
6. Participated in "interventional" clinical trials and have taken test drugs over the past 30 days;
7. Patients that the investigator determines not suitable for enrollment;
8. Failure to follow the test plan to collect blood on time;
9. The blood collection sample does not meet the requirements.

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