Multicenter Study on the Pathogenic Germline Gene Variants of Colorectal Polyposis in China

Zhejiang University

Status: Enrolling

Conditions: Colorectal Polyposis

Treatments: Genetic: germline variants

Study type: Observational

Funder types: Other

Identifiers

NCT04961125

2017-072

Details and patient eligibility

About

Patients suspected of adenomatous polyposis were included. The criteria used were more than 10 polyps observed under colonoscopy, and pathological confirmation of adenoma. Clinical data and pedigree information were collected. The variants of 139 genes associated with different hereditary cancers and polyposis were screened by NGS, which was performed by Genetron Health on the HiSeqX-ten sequencing platform.

Enrollment: 200 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

1. clinical diagnosis of adenomatous polyposis;
2. enough samples (provide at least 5ml of peripheral whole blood) for germline variant detection

Exclusion criteria

genetic diagnosis of polyposis syndrome

Trial design

200 participants in 1 patient group

colorectal polyposis

Treatment:

Genetic: germline variants