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

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Observational

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.

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 Summary:

  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.

Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University

Current 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.


Original Primary Outcome: Pathogenic germline mutation using next-generation sequencing with a targeted panel. [ Time Frame: Upon completion of study, on average 10 months. ]

Current Secondary Outcome: Variant of uncertain significance of germline mutation [ Time Frame: Upon completion of study, on average 2 years. ]

Variant of uncertain significance using next-generation sequencing with a targeted panel.


Original Secondary Outcome:

  • Non-pathogenic germline mutation using next-generation sequencing with a targeted panel. [ Time Frame: Upon completion of study, on average 10 months. ]
  • Variant of uncertain significance using next-generation sequencing with a targeted panel. [ Time Frame: Upon completion of study, on average 10 months. ]


Information By: Second Affiliated Hospital, School of Medicine, Zhejiang University

Dates:
Date Received: February 6, 2017
Date Started: April 2017
Date Completion: December 2018
Last Updated: April 24, 2017
Last Verified: April 2017