Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer

Completed

• Conditions: Lynch Syndrome

• Registration Number: NCT03047226
• Lead Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University

Brief Summary

The purpose of this study is to determine the proportion of patients diagnosed with Lynch syndrome in colorectal cancer patients with the loss of staining by immunohistochemistry (IHC) of any of the mismatch repair (MMR) proteins. Besides, this study aims to test the specificity and the sensitivity of detecting microsatellite instability (MSI) by next-generation sequencing, and to find out the consistency between IHC and MSI in colorectal cancer patients in China. In addition, researchers want to analyze the clinical characteristics and germline mutation of Lynch syndrome in Chinese population.

Detailed Description

1. Detect microsatellite instability (by next-generation sequencing and PCR capillary electrophoresis) and germline mutation (by next-generation sequencing) in probands.

2. Analyze the test outcome with clinical and family information to evaluate the germline mutation status preliminarily: likely pathogenic germline mutation, variant of uncertain significance, non-pathogenic germline mutation.

3. Verify the germline mutation in blood relatives whose proband has known likely pathogenic germline mutation or variant of uncertain significance.

4. Diagnose pathogenic germline mutation and non-pathogenic germline mutation based on clinical characteristics, family information and germline mutation test outcomes (including the outcomes of probands and blood relatives). Diagnose Lynch syndrome and the pathogenic germline mutation carriers in the included population.

5. Analyze the specificity and the sensitivity of detecting microsatellite instability (MSI) by next-generation sequencing; and analyze the consistency between IHC and MSI.

6. Analyze the clinical characteristics and germline mutation of Lynch syndrome in Chinese population.

Study Timeline

• Study First Submitted: 2017-01-23
• Study First Submitted QC: 2017-02-07
• Study First Posted: 2017-02-08
• Study Start: 2017-02-28
• Primary Completion: 2018-07-31
• Study Completion: 2018-07-31
• Status Verified: 2021-07
• Last Update Submitted: 2021-07-14
• Last Update Posted: 2021-07-15

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 311

Inclusion Criteria

Not provided

Exclusion Criteria

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 of germline mutation using next-generation sequencing with a targeted panel.

Trial Locations

Locations (7)

Affiliated Hangzhou First People's Hospital; 🇨🇳 Hangzhou, Zhejiang, China

Tianjin Medical University Cancer Institute and Hospital; 🇨🇳 Tianjin, Tianjin, China

Fujian Medical University Cancer Hospital; 🇨🇳 Fuzhou, Fujian, China

Sun Yat-sen University Cancer Center; 🇨🇳 Guangzhou, Guangdong, China

Yunnan Cancer Hospital; 🇨🇳 Kunming, Yunnan, China

YUANYING; 🇨🇳 Hangzhou, Zhejinag, China

Zhejiang Cancer Hospital; 🇨🇳 Hangzhou, Zhejiang, China