Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer

NCT03047226 | Completed

• 1 other identifier: RSKY2016019
• Study Type: observational
• Target: 311
• Locations: 1 country
• Sites: 7

Brief Summary

The purpose of this study is to determine the proportion of patients diagnosed with Lynch syndrome in colorectal cancer patients with the loss of staining by immunohistochemistry (IHC) of any of the mismatch repair (MMR) proteins. Besides, this study aims to test the specificity and the sensitivity of detecting microsatellite instability (MSI) by next-generation sequencing, and to find out the consistency between IHC and MSI in colorectal cancer patients in China. In addition, researchers want to analyze the clinical characteristics and germline mutation of Lynch syndrome in Chinese population.

Conditions

Lynch Syndrome

Keywords

Lynch Syndrome; mismatch repair; microsatellite instability; next-generation sequencing; immunohistochemistry

Outcome Measures

Primary Outcomes (1)

• Pathogenic germline mutation

  Pathogenic germline mutation using next-generation sequencing with a targeted panel.

  Upon completion of study, on average 2 years.

Secondary Outcomes (1)

• Variant of uncertain significance of germline mutation

  Upon completion of study, on average 2 years.

Interventions

next-generation sequencing OTHER

Use next-generation sequencing to test germline mutation and microsatellite instability.

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The probands will be selected from colorectal cancer patients with the loss of staining by immunohistochemistry of any of the mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, PMS2). The blood relatives verifying germline mutation will be selected from whose probands have germline mutation(s).

You may qualify if:

• All of the following four points should be satisfied:
• Histological diagnosis of colorectal cancer;
• With the loss of staining by immunohistochemistry of any of the mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, PMS2);
• With sufficient tumor tissue and normal tissue to test;
• Agree to provide basic information, clinical information and family history of cancer information.

You may not qualify if:

• With at least one blood relative with known pathogenic germline mutation(s).
• All of the following three points should be satisfied:
• First- to second-degree blood relatives of probands with germline mutation(s).
• With Sufficient tumor tissue and normal tissue to test.
• Agree to provide basic information, clinical information and family history of cancer information.
• Blood relatives who refuse to test.

Sponsors & Collaborators

• Second Affiliated Hospital, School of Medicine, Zhejiang University: lead
• Guangzhou Burning Rock Medical Examination Institute Co., Ltd.: collaborator

Study Sites (7)

Fujian Medical University Cancer Hospital

Fuzhou, Fujian, China

Location

Sun Yat-sen University Cancer Center

Guangzhou, Guangdong, China

Location

Tianjin Medical University Cancer Institute and Hospital

Tianjin, Tianjin Municipality, China

Location

Yunnan Cancer Hospital

Kunming, Yunnan, China

Location

Affiliated Hangzhou First People's Hospital

Hangzhou, Zhejiang, China

Location

Zhejiang Cancer Hospital

Hangzhou, Zhejiang, China

Location

YUANYING

Hangzhou, Zhejinag, 310009, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood, frozen tissue, paraffin tissue, Formalin-fixed tissue and RNA-later preserved tissue.

MeSH Terms

Conditions

Colorectal Neoplasms, Hereditary Nonpolyposis; Microsatellite Instability

Interventions

High-Throughput Nucleotide Sequencing

Condition Hierarchy (Ancestors)

Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Neoplastic Syndromes, Hereditary; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Genomic Instability; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Ying Yuan, MD

  Second Affiliated Hospital, School of Medicine, Zhejiang University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Department of Medical Oncology

Study Record Dates

• First Submitted: January 23, 2017
• First Posted: February 8, 2017
• Study Start: February 28, 2017
• Primary Completion: July 31, 2018
• Study Completion: July 31, 2018
• Last Updated: July 15, 2021

Record last verified: 2021-07

Locations

CN (7)