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The purpose of this study is to find out the proportion of patients diagnosed with Lynch syndrome in colorectal cacner patients meeting Chinese Lynch syndrome criteria. Besides, this study is aimed to analyze the clinical characteristics and germline mutation of Lynch syndrome in Chinese population.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| next-generation sequencing | Other | Use next-generation sequencing to test germline mutation. |
| Measure | Description | Time Frame |
|---|---|---|
| Pathogenic germline mutation | Pathogenic germline mutation using next-generation sequencing with a targeted panel. | Upon completion of study, on average 2 years. |
| Measure | Description | Time Frame |
|---|---|---|
| Variant of uncertain significance of germline mutation | Variant of uncertain significance using next-generation sequencing with a targeted panel. | Upon completion of study, on average 2 years. |
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For probands, the inclusion criteria: all of the following three points should be satisfied:
One of the colorectal cancer patients from families meeting Chinese Lynch syndrome criteria.
Chinese Lynch syndrome criteria:
In a pedigree, there were at least 2 patients with histological-proven colorectal cancer, and among these, at least two patients are first-degree relatives of each other. Besides, any one of the following three points should be satisfied in the pedigree:
A. at least one patients with multiple primary colorectal carcinoma/adenoma, either synchronously or metachronously.
B. at least one colorectal cancer diagnosed before 50 years old. C. in the pedigree, at least one patient diagnosed with other Lynch syndrome associated cancer (ie, gastric, endometrial, small bowel, ureter, or renal-pelvic, ovarian and hepatobiliary cancers).
With sufficient blood to test;
Agree to provide basic information, clinical information and family history of cancer information.
For probands, the exclusion criteria:
With at least one blood relative with known pathogenic germline mutation(s).
For blood relatives verifying germline mutation, the inclusion criteria: all of the following three points should be satisfied:
For blood relatives verifying germline mutation, the exclusion criteria:
Blood relatives who refuse to test.
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The probands will be selected from colorectal cancer patients meeting Chinese Lynch syndrome criteria. The blood relatives verifying germline mutation will be selected from whose proband has germline mutation(s).
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| Name | Affiliation | Role |
|---|---|---|
| Ying Yuan, Ph.D, MD | Second Affiliated Hospital, School of Medicine, Zhejiang University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Jiangsu Province Hospital | Nanjing | Jiangsu | 210029 | China | ||
| West China Hospital |
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| ID | Term |
|---|---|
| D003123 | Colorectal Neoplasms, Hereditary Nonpolyposis |
| ID | Term |
|---|---|
| D015179 | Colorectal Neoplasms |
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
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| ID | Term |
|---|---|
| D059014 | High-Throughput Nucleotide Sequencing |
| ID | Term |
|---|---|
| D017421 | Sequence Analysis |
| D005821 | Genetic Techniques |
| D008919 | Investigative Techniques |
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whole blood
| Chengdu |
| Sichuan |
| 332001 |
| China |
| The second affiliated hospital of Zhejiang University | Hangzhou | Zhejinag | 310009 | China |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D009386 | Neoplastic Syndromes, Hereditary |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D003108 | Colonic Diseases |
| D007410 | Intestinal Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |