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Systemic Screening for Hereditary Colorectal Cancer in China

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. 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
Information provided by (Responsible Party):
Pei-Rong Ding, Sun Yat-sen University

Brief Summary:
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.

Condition or disease Intervention/treatment
Hereditary Colorectal Cancer Diagnostic Test: genetic screening

Detailed Description:

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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Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine

Intervention Details:
  • Diagnostic Test: genetic screening
    Patients receive genetic test to see whether they have germline cancer susceptibility gene mutations

Primary Outcome Measures :
  1. 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

Secondary Outcome Measures :
  1. 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
whole blood retained, DNA was extracted for sequencing

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Newly diagnosed patients with colorectal adenocarcinoma (all stages). For individuals who are old than 70 years old should meet the revised Bethesda Guidelines or polyposis syndromes testing criteria.

Inclusion Criteria:

  1. 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.
  2. Agree to provide related information.

Exclusion Criteria:

  1. Individuals who are under the age of 18.
  2. Individuals who refuse to test.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03365986

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Contact: Ding Peirong, MD 8602087343920

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China, Guangdong
651 Dongfeng Road East Recruiting
Guangzhou, Guangdong, China, 510060
Contact: Peirong Ding, Doctor    13543478645 ext +86   
Contact: Wu Jiang, Doctor    15989120166 ext +86   
Sponsors and Collaborators
Sun Yat-sen University
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Study Director: Ding Peirong, MD Sun Yat-sen University
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Pei-Rong Ding, professor, Sun Yat-sen University Identifier: NCT03365986    
Other Study ID Numbers: 2017-FXY-075
First Posted: December 8, 2017    Key Record Dates
Last Update Posted: December 12, 2017
Last Verified: December 2017

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Pei-Rong Ding, Sun Yat-sen University:
colorectal cancer
Additional relevant MeSH terms:
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Colorectal Neoplasms
Intestinal Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms
Neoplasms by Site
Digestive System Diseases
Gastrointestinal Diseases
Colonic Diseases
Intestinal Diseases
Rectal Diseases