Clinical trial NCT04280666: Next-generation Sequencing of Colorectal Cancer Somatic Cells to Guide Genetic Susceptibility Gene Mutations Screening.
Official title: An Exploratory Study of Next-generation Sequencing in Colorectal Cancer Somatic Cells to Guide Screening for Genetic Susceptibility Gene Mutations.
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Hereditary Colorectal Cancer
Keywords: Colorectal Cancer
Next-generation sequencing
Genetic Susceptibility
Lead sponsor: Fudan University
Sponsor class: OTHER
First posted: 2020-02-21
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: sensitivity, specificity, positive predictive value, and negative predictive value
timeFrame: 1.5 years
Secondary outcomes:
measure: pedigree verification of candidate patients
timeFrame: 3.5 years
measure: Characteristics of the gene map and the correlations with clinical characteristics
timeFrame: 3.5 years
Other outcomes:
Locations:
city: Shanghai
country: China
facility: 270 Dongan Road, Fudan University Shanghai Cancer Center
Study officials:
References: