Systemic Screening for Hereditary Colorectal Cancer in China

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.

Study Overview

• Status: Unknown
• Conditions: Hereditary Colorectal Cancer
• Intervention / Treatment: 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.

• Study Type: Observational
• Enrollment (Anticipated): 500

Contacts and Locations

Study Locations

• China
  • Guangdong
    • Guangzhou, Guangdong, China, 510060
      • Recruiting
      • 651 Dongfeng Road East
      • Contact: Wu Jiang, Doctor; Phone Number: +86 15989120166; Email: jiangwu@sysucc.org.cn

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Sun Yat-sen University
• Investigators: Study Director: Ding Peirong, MD, Sun Yat-sen University

Publications and helpful links

General Publications

• Jiang W, Li L, Ke CF, Wang W, Xiao BY, Kong LH, Tang JH, Li Y, Wu XD, Hu Y, Guo WH, Wang SZ, Wan DS, Xu RH, Pan ZZ, Ding PR. Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel. J Med Genet. 2022 Apr;59(4):370-376. doi: 10.1136/jmedgenet-2020-107230. Epub 2021 Feb 9.

Study record dates

Study Major Dates

• Study Start (Anticipated): January 1, 2018
• Primary Completion (Anticipated): March 31, 2018
• Study Completion (Anticipated): March 31, 2018

Study Registration Dates

• First Submitted: November 26, 2017
• First Submitted That Met QC Criteria: December 3, 2017
• First Posted (Actual): December 8, 2017

Study Record Updates

• Last Update Posted (Actual): December 12, 2017
• Last Update Submitted That Met QC Criteria: December 9, 2017
• Last Verified: December 1, 2017

More Information

Terms related to this study

• Keywords: colorectal cancer; screening; hereditary
• Additional Relevant MeSH Terms: Digestive System Diseases; Neoplasms; Neoplasms by Site; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Intestinal Neoplasms; Rectal Diseases; Colorectal Neoplasms
• Other Study ID Numbers: 2017-FXY-075

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No