Clinical trial · Observational
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
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Lynch Syndrome | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| next-generation sequencing | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Pathogenic germline mutation
- timeFrame
- Upon completion of study, on average 2 years.
- description
- Pathogenic germline mutation using next-generation sequencing with a targeted panel.
Secondary outcomes (1)
- measure
- Variant of uncertain significance of germline mutation
- timeFrame
- Upon completion of study, on average 2 years.
- description
- Variant of uncertain significance of germline mutation using next-generation sequencing with a targeted panel.
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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.
References
Publications (0)
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