NCT04280666

Next-generation Sequencing of Colorectal Cancer Somatic Cells to Guide Genetic Susceptibility Gene Mutations Screening.

An Exploratory Study of Next-generation Sequencing in Colorectal Cancer Somatic Cells to Guide Screening for Genetic Susceptibility Gene Mutations.

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Fudan University · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

This is a prospective, single-center, clinical study.This study is to evaluate the feasibility of genetic susceptibility screening based on the detection of tumor tissue mutations by a NGS panel.

Detailed description

In this study, gene mutation profiling was performed on primary tissue samples from colorectal cancer patients who met relevant clinical screening criteria, unearthing suspected germline pathogenic mutations. At the same time, germline mutation detection was performed on peripheral blood leukocytes of patients, and the consistency between suspected germline mutations in tumor somatic mutation detection and control leukocytes was compared. Establishing the feasibility of tumor somatic mutation-based detection to guide genetic susceptibility screening.Pedigree verification will be carried out for blood relatives of patients with germline mutations which have been identified for colorectal cancer.Through the tumor somatic and germline gene mutation profiles of Chinese hereditary colorectal cancer patients, it reveals the molecular characteristics of hereditary colorectal cancer in Asian populations and provides molecular-level evidence for possible subsequent clinical diagnosis and treatment.

Conditions

• Hereditary Colorectal Cancer

Timeline

• Start date: 2019-06-20
• Primary completion: 2020-12-31
• Completion: 2022-12-31
• First posted: 2020-02-21
• Last updated: 2020-02-21

Locations

1 site across 1 country: China