Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria

Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer Patients Meeting Chinese Lynch Syndrome Criteria: An Open-label and Multi-center Study.

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03046849

Enrollment

100

Registered

2017-02-08

Start date

2017-03-08

Completion date

2019-02-26

Last updated

2021-08-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Lynch Syndrome

Keywords

Lynch Syndrome, next-generation sequencing, germline mutation

Brief summary

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

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.

Interventions

OTHERnext-generation sequencing

Use next-generation sequencing to test germline mutation.

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

For probands, the inclusion criteria： all of the following three points should be satisfied: 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. 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: 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. For blood relatives verifying germline mutation, the

Design outcomes

Primary

Measure	Time frame	Description
Pathogenic germline mutation	Upon completion of study, on average 2 years.	Pathogenic germline mutation using next-generation sequencing with a targeted panel.

Secondary

Measure	Time frame	Description
Variant of uncertain significance of germline mutation	Upon completion of study, on average 2 years.	Variant of uncertain significance using next-generation sequencing with a targeted panel.

Countries

China

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026