An Exploratory Study of Next-generation Sequencing in Colorectal Cancer Somatic Cells to Guide Screening for Genetic Susceptibility Gene Mutations.
试验速览
- 阶段
- 不适用
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- sensitivity, specificity, positive predictive value, and negative predictive value
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
sensitivity, specificity, positive predictive value, and negative predictive value
时间窗: 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.
次要结局
- pedigree verification of candidate patients(3.5 years)
- Characteristics of the gene map and the correlations with clinical characteristics(3.5 years)