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

• Conditions: Hereditary Colorectal Cancer

• Registration Number: NCT04280666
• Lead Sponsor: Fudan University

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.

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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2019-06-20
• Status Verified: 2020-02
• Study First Submitted: 2020-02-20
• Study First Submitted QC: 2020-02-20
• Last Update Submitted: 2020-02-20
• Study First Posted: 2020-02-21
• Last Update Posted: 2020-02-21
• Primary Completion: 2020-12-31
• Study Completion: 2022-12-31

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100

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.

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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.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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

Name	Time	Method
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.)

Trial Locations

Locations (1)

270 Dongan Road, Fudan University Shanghai Cancer Center; 🇨🇳 Shanghai, China