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

Lynch Syndrome Clinical Trial

Official title:

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.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03046849
• Other study ID #: HDLS201701
• Status: Completed
• Start date: March 8, 2017
• Est. completion date: February 26, 2019

Study information

• Verified date: February 2017
• Source: Second Affiliated Hospital, School of Medicine, Zhejiang University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 100
• Est. completion date: February 26, 2019
• Est. primary completion date: February 26, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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 exclusion criteria: Blood relatives who refuse to test.

Related Conditions & MeSH terms

• Colorectal Neoplasms, Hereditary Nonpolyposis
• Lynch Syndrome
• Syndrome

Intervention

Other:
• next-generation sequencing
Use next-generation sequencing to test germline mutation.

Locations

Country	Name	City	State
China	West China Hospital	Chengdu	Sichuan
China	The second affiliated hospital of Zhejiang University	Hangzhou	Zhejinag
China	Jiangsu Province Hospital	Nanjing	Jiangsu

Sponsors (1)

Lead Sponsor	Collaborator
Second Affiliated Hospital, School of Medicine, Zhejiang University

Country where clinical trial is conducted

China, 

Outcome

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