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.

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.

Study Overview

• Status: Unknown
• Conditions: 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 Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

• Study Contact: Name: Fangqi Liu, M.D. Ph.D.; Phone Number: +86 18017317123; Email: liufq021@163.com

Study Locations

• China
  • Shanghai, China, 200032
    • Recruiting
    • 270 Dongan Road, Fudan University Shanghai Cancer Center
    • Contact: Fangqi Liu, M.D. Ph.D; Phone Number: +86 18017317123; Email: liufq021@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Colorectal cancer patients who meet the relevant clinical screening standards (such as Amsterdam standard (I / II), Bethesda standard (Revised Version) and China expert consensus on clinical diagnosis, treatment and family management of hereditary colorectal cancer.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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

Collaborators and Investigators

• Sponsor: Fudan University

Study record dates

Study Major Dates

• Study Start (Actual): June 20, 2019
• Primary Completion (Anticipated): December 31, 2020
• Study Completion (Anticipated): December 31, 2022

Study Registration Dates

• First Submitted: February 20, 2020
• First Submitted That Met QC Criteria: February 20, 2020
• First Posted (Actual): February 21, 2020

Study Record Updates

• Last Update Posted (Actual): February 21, 2020
• Last Update Submitted That Met QC Criteria: February 20, 2020
• Last Verified: February 1, 2020

More Information

Terms related to this study

• Keywords: Colorectal Cancer; Next-generation sequencing; Genetic Susceptibility
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Neoplasms; Neoplasms by Site; Disease Attributes; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Intestinal Neoplasms; Rectal Diseases; Colorectal Neoplasms; Disease Susceptibility; Genetic Predisposition to Disease
• Other Study ID Numbers: FDCRC49-LFQ

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No