Improve the Screening Criteria of Chinese Hereditary Upper Gastrointestinal Tumors
Conditions
Brief summary
Through exploring the specific genetic mutations in the upper gastrointestinal tract tumors with a family history and specific clinical pathological types，we establish a complete family and follow-up system，in order to improve the screening criteria of Chinese hereditary upper gastrointestinal tumors and carry on primary prevention of disease.
Interventions
DIAGNOSTIC_TESTGene detection
Next-generation sequencing
Sponsors
Peking University
Study design
Observational model
FAMILY_BASED
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
Patients with gastric cancer, esophageal adenocarcinoma, or duodenal adenocarcinoma meet one of the following criteria: 1. age≤30; 2. age≤35，gastric cancer with special pathological types; 3. age≤50，≥one first-degree relative of a malignant tumor; 4. ≥ two first-degree／second-degree relatives of a malignant tumor，and ≥one first-degree relative; 5. have ≥two types of malignancies，and age ≤50 at the first time of diagnosis; 6. MSI or dMMR of tissue specimen; Patients with esophageal squamous cell carcinomas meet one of the following criteria: 1. ≥ two first-degree／second-degree relatives of a malignant tumor，and ≥one first-degree relative; 2. have ≥two types of malignancies，and age ≤50 at the first time of diagnosis; 3. MSI or dMMR of tissue specimen;
Exclusion criteria
* Patients do not meet one of the inclusion criteria;
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Pedigree analysis | In the first phase of the project, we plan to detect 40-50 families in one year. And in the second phase，we will increase the number of predigree to 200. We hope to finish the phase before 2022.3 | We plan to analyse the families of patients who met the inclusion criterias through gene detection. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| somatic mutation landscape of hereditary upper gastrointestinal cancer | We plan to accomplish sample collection, sequencing and data analysis before 2022.3 | By comparing the landscape of somatic mutation of patients with different pathogenic germiline mutation , we want to explore the pathogenesis and molecule mechanism of hereditary upper digestive tract tumors. |
Countries
China
Outcome results
None listed