Systemic Screening for Hereditary Colorectal Cancer in China
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|ClinicalTrials.gov Identifier: NCT03365986|
Recruitment Status : Unknown
Verified December 2017 by Pei-Rong Ding, Sun Yat-sen University.
Recruitment status was: Recruiting
First Posted : December 8, 2017
Last Update Posted : December 12, 2017
|Condition or disease||Intervention/treatment|
|Hereditary Colorectal Cancer||Diagnostic Test: genetic screening|
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.
|Study Type :||Observational|
|Estimated Enrollment :||500 participants|
|Official Title:||Systemic Screening of Germline Cancer Gene Mutation for Colorectal Cancer in China: A Prospective and Multi-center Study|
|Estimated Study Start Date :||January 1, 2018|
|Estimated Primary Completion Date :||March 31, 2018|
|Estimated Study Completion Date :||March 31, 2018|
- Diagnostic Test: genetic screening
Patients receive genetic test to see whether they have germline cancer susceptibility gene mutations
- The incidence of hereditary colorectal cancer [ Time Frame: 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
- cost-effect for hereditary colorectal cancer screening [ Time Frame: 3 months ]The direct cost of multigene panel testing or the traditional phenotype-specific single gene testing for hereditary colorectal cancer were estimated, and cost-effect analysis were be done between this two strategies
Biospecimen Retention: Samples With DNA
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Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03365986
|Contact: Ding Peirong, MDemail@example.com|
|Study Director:||Ding Peirong, MD||Sun Yat-sen University|