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This is a prospective, single-center, clinical study.This study is to evaluate the feasibility of genetic susceptibility screening based on the detection of tumor tissue mutations by a NGS panel.
In this study, gene mutation profiling was performed on primary tissue samples from colorectal cancer patients who met relevant clinical screening criteria, unearthing suspected germline pathogenic mutations. At the same time, germline mutation detection was performed on peripheral blood leukocytes of patients, and the consistency between suspected germline mutations in tumor somatic mutation detection and control leukocytes was compared. Establishing the feasibility of tumor somatic mutation-based detection to guide genetic susceptibility screening.Pedigree verification will be carried out for blood relatives of patients with germline mutations which have been identified for colorectal cancer.Through the tumor somatic and germline gene mutation profiles of Chinese hereditary colorectal cancer patients, it reveals the molecular characteristics of hereditary colorectal cancer in Asian populations and provides molecular-level evidence for possible subsequent clinical diagnosis and treatment.
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| Measure | Description | Time Frame |
|---|---|---|
| sensitivity, specificity, positive predictive value, and negative predictive value | Assessing the sensitivity, specificity, positive predictive value, and negative predictive value of genetic susceptibility gene mutations screening based on a targeted Next-generation sequencing panel. | 1.5 years |
| Measure | Description | Time Frame |
|---|---|---|
| pedigree verification of candidate patients | Screening for leukocyte mutations in blood relatives of the hereditary colorectal cancer patients with germline mutations.Preliminary analysis of the distribution, clinical characteristics, molecular typing and prognosis of Chinese hereditary colorectal cancer patients and their families. | 3.5 years |
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Inclusion Criteria:
Exclusion Criteria:
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Colorectal cancer patients who meet the relevant clinical screening standards (such as Amsterdam standard (I / II), Bethesda standard (Revised Version) and China expert consensus on clinical diagnosis, treatment and family management of hereditary colorectal cancer.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Fangqi Liu, M.D. Ph.D. | Contact | +86 18017317123 | liufq021@163.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| 270 Dongan Road, Fudan University Shanghai Cancer Center | Recruiting | Shanghai | 200032 | China |
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| ID | Term |
|---|---|
| D015179 | Colorectal Neoplasms |
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
| D009371 | Neoplasms by Site |
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whole blood and formalin-fixed tissue
| Characteristics of the gene map and the correlations with clinical characteristics | Gene map characteristics of tissue samples from colorectal cancer patients who meet the relevant clinical screening criteria and their correlations with clinical characteristics (age, gender, family history, etc.) | 3.5 years |
| D009369 | Neoplasms |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D003108 | Colonic Diseases |
| D007410 | Intestinal Diseases |
| D012002 | Rectal Diseases |
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |