Systemic Screening of Germline Cancer Gene Mutation for Colorectal Cancer in China: A Prospective and Multi-center Study
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- The incidence of hereditary colorectal cancer
研究概览
简要总结
The purpose of the this study is to determine the prevalence of germline cancer susceptibility gene mutation among Chinese population, and to find best ways to screen patients with colorectal cancer in China. To accomplish this objective, the investigators will establish a large sample database of hereditary colorectal cancer related information using multigene panel testing based on Next-Generation Sequencing.
详细描述
Hereditary factors play a very important role in colorectal cancer risk. Identification of the germline cancer gene mutation at the time of colorectal cancer presentation has significant implications for the patients and families, as it directs follow up and clinical options. Professional guidelines recommend patients with colorectal cancer receive a phenotype-driven genetic testing strategies. For example，Lynch syndrome was identified in 2%-4% of patients with CRC using micro-satellite instability (MSI) or DNA mismatch repair (MMR) protein immunohistochemistry (IHC) tumor testing in preselected patients for germline MMR gene testing. However, there is few of clinical characteristics or germline gene mutation data from Chinese population. With the advent of next-generation sequencing (NGS), genetic testing for hereditary CRC has shifted from phenotype-specific single gene assessment to broad panels providing simultaneous assessment of multiple genes implicated in various hereditary cancer syndromes. This study plans to screen and establish a database of 500 consecutive newly diagnosed patients with CRC using multigene panel testing based on Next-Generation Sequencing. The purpose of this study is to:
- Determine the prevalence of hereditary colorectal cancer and spectrum of germline cancer gene mutation among Chinese population.
- Evaluate the cost-effectiveness and optimize the design of multigene panel testing.
- Establish a statewide screening model for hereditary colorectal cancer.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 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
- •Newly diagnosed with colorectal adenocarcinoma (all stages) patients. For individuals who are old than 70 years old should meet the revised Bethesda Guidelines or polyposis syndromes testing criteria.
- •Agree to provide related information.
排除标准
- •Individuals who are under the age of
- •Individuals who refuse to test.
结局指标
主要结局
The incidence of hereditary colorectal cancer
时间窗: 3 months
Through genetic testing for germline cancer susceptibility gene mutations among 500 consecutive patients with colorectal cancer using multigene panel testing based on Next-Generation Sequencing
次要结局
- cost-effect for hereditary colorectal cancer screening(3 months)
研究者
Pei-Rong Ding
professor
Sun Yat-sen University