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

Hereditary Colorectal Cancer Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04280666
• Other study ID #: FDCRC49-LFQ
• Status: Recruiting
• Start date: June 20, 2019
• Est. completion date: December 31, 2022

Study information

• Verified date: February 2020
• Source: Fudan University
• Contact: Fangqi Liu, M.D. Ph.D.
• Phone: +86 18017317123
• Email: liufq021[@]163.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: December 31, 2022
• Est. primary completion date: December 31, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• A biopsy proven histological diagnosis of colorectal carcinoma.

• = 18 years of age on the day of signing informed consent.

• Patients must meet the relevant clinical screening standards, such as the Amsterdam Standard (I / II),etc.

• Patients need to provide tumor tissue samples and matched peripheral blood (leukocyte) samples.

Exclusion Criteria:

• History of other malignant tumors(except for cervical carcinoma in situ, basal or squamous cell skin cancer which has been fully treated).

• There is no detailed histopathological report to judge the nature of the lesions.

• Any social or psychological problems, etc., which are judged by the researcher to be unsuitable for the study.

• For various reasons, the baseline samples (tumor tissue samples, peripheral blood samples) were incomplete.

• Patients who are unwilling or unable to follow the research program for long-term and regular follow-up in current medical institutions.

• Failure to complete the follow-up within 2 years.

Related Conditions & MeSH terms

• Colorectal Neoplasms
• Disease Susceptibility
• Genetic Predisposition to Disease
• Hereditary Colorectal Cancer

Locations

Country	Name	City	State
China	270 Dongan Road, Fudan University Shanghai Cancer Center	Shanghai

Sponsors (1)

Lead Sponsor	Collaborator
Fudan University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	sensitivity, specificity, positive predictive value, and negative predictive value	Assessing the sensitivity, specificity, positive predictive value, and negative predictive value of genetic susceptibility gene mutations screening based on a targeted Next-generation sequencing panel.	1.5 years
Secondary	pedigree verification of candidate patients	Screening for leukocyte mutations in blood relatives of the hereditary colorectal cancer patients with germline mutations.Preliminary analysis of the distribution, clinical characteristics, molecular typing and prognosis of Chinese hereditary colorectal cancer patients and their families.	3.5 years
Secondary	Characteristics of the gene map and the correlations with clinical characteristics	Gene map characteristics of tissue samples from colorectal cancer patients who meet the relevant clinical screening criteria and their correlations with clinical characteristics (age, gender, family history, etc.)	3.5 years