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

Sponsor

Fudan University (Other)

Overall Status

Recruiting

CT.gov ID

NCT04280666

Collaborator

(none)

100

Enrollment

Location

42.4

Anticipated Duration (Months)

2.4

Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Hereditary Colorectal Cancer

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

100 participants

Observational Model:

Case-Only

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Jun 20, 2019

Anticipated Primary Completion Date :

Dec 31, 2020

Anticipated Study Completion Date :

Dec 31, 2022

Outcome Measures

Primary Outcome Measures

sensitivity, specificity, positive predictive value, and negative predictive value [1.5 years]
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.

Secondary Outcome Measures

pedigree verification of candidate patients [3.5 years]
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.
Characteristics of the gene map and the correlations with clinical characteristics [3.5 years]
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.)

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.