Hereditary Colorectal Cancer
Conditions
Keywords
Colorectal Cancer, Next-generation sequencing, Genetic Susceptibility
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.
Interventions
None listed
Sponsors
Fudan University
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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.) |
Countries
China
Contacts
Primary ContactFangqi Liu, M.D. Ph.D.
Outcome results
None listed