- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03047226
Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer
Diagnosis of Lynch Syndrome Based on the Colorectal Core™ Platform in Colorectal Cancer Patients With the Loss of Staining by Immunohistochemistry (IHC) of Any of the Mismatch Repair (MMR) Proteins: An Open-label and Multi-center Study
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
- Detect microsatellite instability (by next-generation sequencing and PCR capillary electrophoresis) and germline mutation (by next-generation sequencing) in probands.
- 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.
- Verify the germline mutation in blood relatives whose proband has known likely pathogenic germline mutation or variant of uncertain significance.
- 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.
- Analyze the specificity and the sensitivity of detecting microsatellite instability (MSI) by next-generation sequencing; and analyze the consistency between IHC and MSI.
- Analyze the clinical characteristics and germline mutation of Lynch syndrome in Chinese population.
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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Fujian
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Fuzhou, Fujian, China
- Fujian Medical University Cancer Hospital
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Guangdong
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Guangzhou, Guangdong, China
- Sun Yat-sen University Cancer Center
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Tianjin
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Tianjin, Tianjin, China
- Tianjin Medical University Cancer Institute and Hospital
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Yunnan
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Kunming, Yunnan, China
- Yunnan cancer hospital
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Zhejiang
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Hangzhou, Zhejiang, China
- Zhejiang Cancer hospital
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Hangzhou, Zhejiang, China
- Affiliated HangZhou First People's Hospital
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Zhejinag
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Hangzhou, Zhejinag, China, 310009
- YUANYING
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
The probands will be selected from colorectal cancer patients with the loss of staining by immunohistochemistry of any of the mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, PMS2).
The blood relatives verifying germline mutation will be selected from whose probands have germline mutation(s).
Description
For probands, the 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.
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 tumor tissue and normal tissue 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.
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Retrospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Pathogenic germline mutation
Time Frame: Upon completion of study, on average 2 years.
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Pathogenic germline mutation using next-generation sequencing with a targeted panel.
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Upon completion of study, on average 2 years.
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Variant of uncertain significance of germline mutation
Time Frame: Upon completion of study, on average 2 years.
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Variant of uncertain significance of germline mutation using next-generation sequencing with a targeted panel.
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Upon completion of study, on average 2 years.
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Collaborators and Investigators
Investigators
- Principal Investigator: Ying Yuan, MD, Second Affiliated Hospital, School of Medicine, Zhejiang University
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Digestive System Diseases
- Pathologic Processes
- Metabolic Diseases
- Neoplasms
- Neoplasms by Site
- Disease
- Gastrointestinal Neoplasms
- Digestive System Neoplasms
- Gastrointestinal Diseases
- Genetic Diseases, Inborn
- Colonic Diseases
- Intestinal Diseases
- Intestinal Neoplasms
- Colorectal Neoplasms
- Neoplastic Syndromes, Hereditary
- DNA Repair-Deficiency Disorders
- Syndrome
- Colorectal Neoplasms, Hereditary Nonpolyposis
Other Study ID Numbers
- RSKY2016019
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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