Systemic Screening for Hereditary Colorectal Cancer in China

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03365986
• Other study ID #: 2017-FXY-075
• Status: Recruiting
• Phase: N/A
• First received: November 26, 2017
• Last updated: December 9, 2017
• Start date: January 1, 2018
• Est. completion date: March 31, 2018

Study information

• Verified date: December 2017
• Source: Sun Yat-sen University
• Contact: Ding Peirong, MD
• Phone: 8602087343920
• Email: dingpr[@]sysucc.org.cn
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: March 31, 2018
• Est. primary completion date: March 31, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Colorectal Neoplasms
• Hereditary Colorectal Cancer

Intervention

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

Locations

Country	Name	City	State
China	651 Dongfeng Road East	Guangzhou	Guangdong

Sponsors (1)

Lead Sponsor	Collaborator
Sun Yat-sen University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The incidence of hereditary colorectal cancer	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	3 months
Secondary	cost-effect for hereditary colorectal cancer screening	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	3 months