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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.
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:
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| genetic screening | Diagnostic Test | Patients receive genetic test to see whether they have germline cancer susceptibility gene mutations |
| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Ding Peirong, MD | Contact | 8602087343920 | dingpr@sysucc.org.cn |
| Name | Affiliation | Role |
|---|---|---|
| Ding Peirong, MD | Sun Yat-Sen University Cancer Center | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| 651 Dongfeng Road East | Recruiting | Guangzhou | Guangdong | 510060 | China |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 33563768 | Derived | 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. |
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| ID | Term |
|---|---|
| D015179 | Colorectal Neoplasms |
| ID | Term |
|---|---|
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
| D009371 | Neoplasms by Site |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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whole blood retained, DNA was extracted for sequencing
| D009369 | Neoplasms |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D003108 | Colonic Diseases |
| D007410 | Intestinal Diseases |
| D012002 | Rectal Diseases |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |