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

Results pending

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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Recruitment Status

COMPLETED

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-03-08

Study Completion Date

2019-02-26

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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1. Detect germline mutation (by next-generation squencing) in probands.
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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Lynch Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Interventions

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next-generation sequencing

Use next-generation sequencing to test germline mutation.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

1. 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).
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

With at least one blood relative with known pathogenic germline mutation(s).


Blood relatives who refuse to test.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Second Affiliated Hospital, School of Medicine, Zhejiang University

OTHER

Sponsor Role lead

Responsible Party

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Ying Yuan, MD

Professor, Department of Medical Oncology

Responsibility Role PRINCIPAL_INVESTIGATOR

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

Site Status

West China Hospital

Chengdu, Sichuan, China

Site Status

The second affiliated hospital of Zhejiang University

Hangzhou, Zhejinag, China

Site Status

Countries

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China

Other Identifiers

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HDLS201701

Identifier Type: -

Identifier Source: org_study_id

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