Systemic Screening for Hereditary Colorectal Cancer in China

Sun Yat-sen University

Status: Unknown

Conditions: Hereditary Colorectal Cancer

Treatments: Diagnostic Test: genetic screening

Study type: Observational

Funder types: Other

Identifiers

NCT03365986

2017-FXY-075

Details and patient eligibility

About

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.

Full 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.

Enrollment: 500 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.