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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

311 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-02-28

Study Completion Date

2018-07-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Lynch Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Interventions

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next-generation sequencing

Use next-generation sequencing to test germline mutation and microsatellite instability.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

All of the following four points should be satisfied:

* Histological diagnosis of colorectal cancer;
* With the loss of staining by immunohistochemistry of any of the mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, PMS2);
* With sufficient tumor tissue and normal tissue to test;
* Agree to provide basic information, clinical information and family history of cancer information.

All of the following three points should be satisfied:

* First- to second-degree blood relatives of probands with germline mutation(s).
* With Sufficient tumor tissue and normal tissue to test.
* Agree to provide basic information, clinical information and family history of cancer information.