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.

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.

Study Overview

• Status: Completed
• Conditions: Lynch Syndrome
• Intervention / Treatment: Other: next-generation sequencing

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.

• Study Type: Observational
• Enrollment (Actual): 100

Contacts and Locations

Study Locations

• China
  • Jiangsu
    • Nanjing, Jiangsu, China, 210029
      • Jiangsu Province Hospital
  • Sichuan
    • Chengdu, Sichuan, China, 332001
      • West China Hospital
  • Zhejinag
    • Hangzhou, Zhejinag, China, 310009
      • The Second Affiliated Hospital of Zhejiang University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

The probands will be selected from colorectal cancer patients meeting Chinese Lynch syndrome criteria. The blood relatives verifying germline mutation will be selected from whose proband has germline mutation(s).

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.

Collaborators and Investigators

• Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University
• Investigators: Principal Investigator: Ying Yuan, Ph.D, MD, Second Affiliated Hospital, School of Medicine, Zhejiang University

Study record dates

Study Major Dates

• Study Start (Actual): March 8, 2017
• Primary Completion (Actual): February 26, 2019
• Study Completion (Actual): February 26, 2019

Study Registration Dates

• First Submitted: February 6, 2017
• First Submitted That Met QC Criteria: February 6, 2017
• First Posted (Estimate): February 8, 2017

Study Record Updates

• Last Update Posted (Actual): August 11, 2021
• Last Update Submitted That Met QC Criteria: August 10, 2021
• Last Verified: February 1, 2017

More Information

Terms related to this study

• Keywords: next-generation sequencing; germline mutation; Lynch Syndrome
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Metabolic Diseases; Neoplasms; Neoplasms by Site; Disease; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Genetic Diseases, Inborn; Colonic Diseases; Intestinal Diseases; Intestinal Neoplasms; Colorectal Neoplasms; Neoplastic Syndromes, Hereditary; DNA Repair-Deficiency Disorders; Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis
• Other Study ID Numbers: HDLS201701

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No