Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria
NCT ID: NCT03046849
Last Updated: 2021-08-11
Study Results
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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COMPLETED
100 participants
OBSERVATIONAL
2017-03-08
2019-02-26
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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CASE_ONLY
RETROSPECTIVE
Interventions
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next-generation sequencing
Use next-generation sequencing to test germline mutation.
Eligibility Criteria
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Inclusion 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).
2. With sufficient blood to test;
3. Agree to provide basic information, clinical information and family history of cancer information.
1. First- to second-degree blood relatives of probands with germline mutation(s).
2. With sufficient blood to test.
3. Agree to provide basic information, clinical information and family history of cancer information.
Exclusion Criteria
Blood relatives who refuse to test.
ALL
No
Sponsors
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Second Affiliated Hospital, School of Medicine, Zhejiang University
OTHER
Responsible Party
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Ying Yuan, MD
Professor, Department of Medical Oncology
Principal Investigators
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Ying Yuan, Ph.D, MD
Role: PRINCIPAL_INVESTIGATOR
Second Affiliated Hospital, School of Medicine, Zhejiang University
Locations
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Jiangsu Province Hospital
Nanjing, Jiangsu, China
West China Hospital
Chengdu, Sichuan, China
The second affiliated hospital of Zhejiang University
Hangzhou, Zhejinag, China
Countries
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Other Identifiers
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HDLS201701
Identifier Type: -
Identifier Source: org_study_id
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