NCT04961125RecruitingNot Applicable
Multicenter Study on the Pathogenic Germline Gene Variants of Colorectal Polyposis in China
Second Affiliated Hospital, School of Medicine, Zhejiang University5 sites in 1 country200 target enrollmentStarted: August 2, 2021Last updated:
Conditions
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Enrollment
- 200
- Locations
- 5
- Primary Endpoint
- germline variant detection rate in the polyposis population
Study Overview
Brief Summary
Patients suspected of adenomatous polyposis were included. The criteria used were more than 10 polyps observed under colonoscopy, and pathological confirmation of adenoma. Clinical data and pedigree information were collected. The variants of 139 genes associated with different hereditary cancers and polyposis were screened by NGS, which was performed by Genetron Health on the HiSeqX-ten sequencing platform.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •clinical diagnosis of adenomatous polyposis;
- •enough samples (provide at least 5ml of peripheral whole blood) for germline variant detection
Exclusion Criteria
- •genetic diagnosis of polyposis syndrome
Outcomes
Primary Outcomes
germline variant detection rate in the polyposis population
Time Frame: through study completion, an average of 3 years
germline variant detection rate in the polyposis population
Secondary Outcomes
No secondary outcomes reported
Investigators
Study Sites (5)
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