Hereditary Colorectal Cancer
Conditions
Keywords
hereditary, colorectal cancer, screening
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.
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.
Interventions
DIAGNOSTIC_TESTgenetic screening
Patients receive genetic test to see whether they have germline cancer susceptibility gene mutations
Sponsors
Sun Yat-sen University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The incidence of hereditary colorectal cancer | 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
| Measure | Time frame | Description |
|---|---|---|
| cost-effect for hereditary colorectal cancer screening | 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 |
Countries
China
Contacts
Primary ContactDing Peirong, MD
Outcome results
None listed