Lynch SyndromeNCT03047226
Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer
An observational study of Lynch Syndrome, run by Second Affiliated Hospital, Zhejiang University, School of Medicine at 7 sites in China.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Lynch Syndrome
- What is being tested?
- next-generation sequencing
- How many people
- 311 participants
- Where
- 7 sitesChina
- Study dates
- 28 Feb 2017to 31 Jul 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Child, Adult, Older adult
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).
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.
Trial locations and contacts
7 sites in 1 country.
7 sites in 1 country
China7 sites
Fujian Medical University Cancer Hospital
Fuzhou, Fujian
Sun Yat-sen University Cancer Center
Guangzhou, Guangdong
Affiliated Hangzhou First People's Hospital
Hangzhou, Zhejiang
Zhejiang Cancer Hospital
Hangzhou, Zhejiang
YUANYING
Hangzhou, Zhejinag, 310009
Yunnan Cancer Hospital
Kunming, Yunnan
Tianjin Medical University Cancer Institute and Hospital
Tianjin, Tianjin Municipality
About this study
Official title: 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
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.
Read the 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.
- Conditions
- Lynch Syndrome
- Being tested
- next-generation sequencing
- Keywords
- Lynch Syndrome, mismatch repair, microsatellite instability, next-generation sequencing, immunohistochemistry
- Medical subject headings
- Colorectal Neoplasms, Hereditary Nonpolyposis, Microsatellite Instability
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
next-generation sequencingOther
Use next-generation sequencing to test germline mutation and microsatellite instability.
What is being measured
The primary outcome is the main question the study is designed to answer.
Pathogenic germline mutation
Pathogenic germline mutation using next-generation sequencing with a targeted panel.
Measured: Upon completion of study, on average 2 years.
Secondary outcomes (1)
Variant of uncertain significance of germline mutation
Variant of uncertain significance of germline mutation using next-generation sequencing with a targeted panel.
Measured: Upon completion of study, on average 2 years.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Feb 2017 (estimated)
- Study start28 Feb 2017
- Primary completion31 Jul 2018
- Study completion31 Jul 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lynch SyndromeStudies of the same condition, open and under way.
- More trials run by Second Affiliated Hospital, Zhejiang University, School of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 311 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Guangzhou Burning Rock Medical Examination Institute Co., Ltd.
- Responsible party
- Principal investigator, Ying Yuan, MD, Second Affiliated Hospital, Zhejiang University, School of Medicine
- Investigators
- Ying Yuan, MD, Principal investigator, Second Affiliated Hospital, Zhejiang University, School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03047226
- Sponsor's protocol ID
- RSKY2016019
- Status last verified
- Jul 2021
- First submitted
- 23 Jan 2017
- Last updated
- 15 Jul 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 15 Jul 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT03047226
- Acronym / sponsor ID
- RSKY2016019
- Conditions
- Lynch Syndrome
- Keywords
- Lynch Syndrome, mismatch repair, microsatellite instability, next-generation sequencing, immunohistochemistry
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 311 participants (actual)
- Lead sponsor
- Second Affiliated Hospital, Zhejiang University, School of MedicineUniversity, hospital or other
- Collaborators
- Guangzhou Burning Rock Medical Examination Institute Co., Ltd.
- Study start
- 28 Feb 2017 (actual)
- Primary completion
- 31 Jul 2018 (actual)
- Study completion
- 31 Jul 2018 (actual)
- First posted
- 8 Feb 2017 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| next-generation sequencingUse next-generation sequencing to test germline mutation and microsatellite instability. | Other | – |
Primary outcome
Pathogenic germline mutation
Time frame: Upon completion of study, on average 2 years.
Pathogenic germline mutation using next-generation sequencing with a targeted panel.
1 secondary outcome
Variant of uncertain significance of germline mutation
Time frame: Upon completion of study, on average 2 years.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jul 2021.
- Individual participant dataSharing planned: Undecided
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Active, not recruitingPhase 3
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ying Yuan, MD principal investigator
Second Affiliated Hospital, Zhejiang University, School of Medicine
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lynch Syndrome, run by Second Affiliated Hospital, Zhejiang University, School of Medicine at 7 sites in China.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Jul 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Pathogenic germline mutation (time frame: Upon completion of study, on average 2 years.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Jul 2021.