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

NCT03046849 | Completed

• 1 other identifier: HDLS201701
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 3

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.

Conditions

Lynch Syndrome

Keywords

Lynch Syndrome; next-generation sequencing; germline mutation

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• 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 meeting Chinese Lynch syndrome criteria. The blood relatives verifying germline mutation will be selected from whose proband has germline mutation(s).

You may qualify if:

• 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).
• With sufficient blood 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).
• First- to second-degree blood relatives of probands with germline mutation(s).
• With sufficient blood 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

Study Sites (3)

Jiangsu Province Hospital

Nanjing, Jiangsu, 210029, China

Location

West China Hospital

Chengdu, Sichuan, 332001, China

Location

The second affiliated hospital of Zhejiang University

Hangzhou, Zhejinag, 310009, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Colorectal Neoplasms, Hereditary Nonpolyposis

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

Intervention Hierarchy (Ancestors)

Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Ying Yuan, Ph.D, 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: February 6, 2017
• First Posted: February 8, 2017
• Study Start: March 8, 2017
• Primary Completion: February 26, 2019
• Study Completion: February 26, 2019
• Last Updated: August 11, 2021

Record last verified: 2017-02

Locations

CN (3)