Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria

Study Overview
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Brief Summary
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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
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Detect germline mutation (by next-generation squencing) in probands. Verify the germline mutation in blood relatives whose proband has known germline mutation(s). Analyze the test data with clinical and family information. Diagnose Lynch syndrome in the included population. Analyze the clinical characteristics and germline mutation of Lynch syndrome in Chinese population.

Official Title
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Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer Patients Meeting Chinese Lynch Syndrome Criteria: An Open-label and Multi-center Study.

Conditions
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Lynch Syndrome

Intervention / Treatment
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* Other: next-generation sequencing


Participation Criteria
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Eligibility Criteria
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For probands, the inclusion criteria： all of the following three points should be satisfied: One of the colorectal cancer patients from families meeting Chinese Lynch syndrome criteria. Chinese Lynch syndrome criteria: In a pedigree, there were at least 2 patients with histological-proven colorectal cancer, and among these, at least two patients are first-degree relatives of each other. Besides, any one of the following three points should be satisfied in the pedigree: A. at least one patients with multiple primary colorectal carcinoma/adenoma, either synchronously or metachronously. B. at least one colorectal cancer diagnosed before 50 years old. C. in the pedigree, at least one patient diagnosed with other Lynch syndrome associated cancer (ie, gastric, endometrial, small bowel, ureter, or renal-pelvic, ovarian and hepatobiliary cancers). With sufficient blood to test; Agree to provide basic information, clinical information and family history of cancer information. For probands, the exclusion criteria: With at least one blood relative with known pathogenic germline mutation(s). For blood relatives verifying germline mutation, the inclusion criteria： all of the following three points should be satisfied: First- to second-degree blood relatives of probands with germline mutation(s). With sufficient blood to test. Agree to provide basic information, clinical information and family history of cancer information. For blood relatives verifying germline mutation, the exclusion criteria: Blood relatives who refuse to test.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: next-generation sequencing|Use next-generation sequencing to test germline mutation.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Pathogenic germline mutation | Pathogenic germline mutation using next-generation sequencing with a targeted panel. | Upon completion of study, on average 2 years. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Variant of uncertain significance of germline mutation | Variant of uncertain significance using next-generation sequencing with a targeted panel. | Upon completion of study, on average 2 years. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Lynch Syndrome, next-generation sequencing, germline mutation