Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria
- Conditions
- Lynch Syndrome
- Registration Number
- NCT03046849
- Lead Sponsor
- Second Affiliated Hospital, School of Medicine, Zhejiang University
- Brief Summary
The purpose of this study is to find out the proportion of patients diagnosed with Lynch syndrome in colorectal cacner patients meeting Chinese Lynch syndrome criteria. Besides, this study is aimed to analyze the clinical characteristics and germline mutation of Lynch syndrome in Chinese population.
- Detailed Description
1. Detect germline mutation (by next-generation squencing) in probands.
2. Verify the germline mutation in blood relatives whose proband has known germline mutation(s).
3. Analyze the test data with clinical and family information. Diagnose Lynch syndrome in the included population.
4. Analyze the clinical characteristics and germline mutation of Lynch syndrome in Chinese population.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 100
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Pathogenic germline mutation Upon completion of study, on average 2 years. Pathogenic germline mutation using next-generation sequencing with a targeted panel.
- Secondary Outcome Measures
Name Time Method Variant of uncertain significance of germline mutation Upon completion of study, on average 2 years. Variant of uncertain significance using next-generation sequencing with a targeted panel.
Trial Locations
- Locations (3)
West China Hospital
🇨🇳Chengdu, Sichuan, China
The second affiliated hospital of Zhejiang University
🇨🇳Hangzhou, Zhejinag, China
Jiangsu Province Hospital
🇨🇳Nanjing, Jiangsu, China