Hereditary Colorectal Cancer Clinical Trial
Official title:
Systemic Screening of Germline Cancer Gene Mutation for Colorectal Cancer in China: A Prospective and Multi-center Study
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.
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:
1. Determine the prevalence of hereditary colorectal cancer and spectrum of germline cancer
gene mutation among Chinese population.
2. Evaluate the cost-effectiveness and optimize the design of multigene panel testing.
3. Establish a statewide screening model for hereditary colorectal cancer.
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