Multicenter Study on the Pathogenic Germline Gene Variants of Colorectal Polyposis in China
- Conditions
- Colorectal Polyposis
- Interventions
- Genetic: germline variants
- Registration Number
- NCT04961125
- Lead Sponsor
- Second Affiliated Hospital, School of Medicine, Zhejiang University
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 200
- clinical diagnosis of adenomatous polyposis;
- enough samples (provide at least 5ml of peripheral whole blood) for germline variant detection
genetic diagnosis of polyposis syndrome
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description colorectal polyposis germline variants -
- Primary Outcome Measures
Name Time Method germline variant detection rate in the polyposis population through study completion, an average of 3 years germline variant detection rate in the polyposis population
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (5)
General Hospital of Air Force
🇨🇳Beijing, Beijing, China
Jiangsu Province Hospital
🇨🇳Nanjing, Jiangsu, China
The Sixth Affiliated Hospital of Sun Yat-sen University
🇨🇳Guangzhou, Guangdong, China
Zhejiang Cancer Hospital
🇨🇳Hangzhou, Zhejiang, China
SAHZU
🇨🇳Hangzhou, Zhejinag, China