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

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

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.

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