Screening of Hereditary Upper Gastrointestinal Cancer in China

Study Overview
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Brief Summary
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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.

Official Title
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Screening of Hereditary Upper Gastrointestinal Cancer in China

Conditions
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Improve the Screening Criteria of Chinese Hereditary Upper Gastrointestinal Tumors

Intervention / Treatment
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* Diagnostic Test: Gene detection


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients with gastric cancer, esophageal adenocarcinoma, or duodenal adenocarcinoma meet one of the following criteria: age≤30; age≤35，gastric cancer with special pathological types; age≤50，≥one first-degree relative of a malignant tumor; ≥ two first-degree／second-degree relatives of a malignant tumor，and ≥one first-degree relative; have ≥two types of malignancies，and age ≤50 at the first time of diagnosis; MSI or dMMR of tissue specimen; Patients with esophageal squamous cell carcinomas meet one of the following criteria: ≥ two first-degree／second-degree relatives of a malignant tumor，and ≥one first-degree relative; have ≥two types of malignancies，and age ≤50 at the first time of diagnosis; MSI or dMMR of tissue specimen; Exclusion Criteria: Patients do not meet one of the inclusion criteria;
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Adenocarcinoma of upper digestive tract<br>Early-onset carcinomas ; Family History of Malignancy; Special pathological type; MSI or dMMR; Multiple primary malignant tumors; | Diagnostic Test: Gene detection<br>* Next-generation sequencing<br>|
| Esophageal squamous cell carcinoma<br>Family History of Malignancy; Multiple primary malignant tumors; MSI or dMMR; | Diagnostic Test: Gene detection<br>* Next-generation sequencing<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Pedigree analysis | We plan to analyse the families of patients who met the inclusion criterias through gene detection. | 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 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| somatic mutation landscape of hereditary upper gastrointestinal cancer | 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. | We plan to accomplish sample collection, sequencing and data analysis before 2022.3 |