Screening of Hereditary Upper Gastrointestinal Cancer in China

• Conditions: Improve the Screening Criteria of Chinese Hereditary Upper Gastrointestinal Tumors
• Interventions: Diagnostic Test: Gene detection

• Registration Number: NCT03130621
• Lead Sponsor: Peking University

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2017-01
• Study First Submitted: 2017-04-22
• Study First Submitted QC: 2017-04-22
• Study First Posted: 2017-04-26
• Status Verified: 2019-06
• Last Update Submitted: 2019-06-02
• Last Update Posted: 2019-06-04
• Primary Completion: 2022-03
• Study Completion: 2022-03

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 500

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;

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Adenocarcinoma of upper digestive tract	Gene detection	Early-onset carcinomas ; Family History of Malignancy; Special pathological type; MSI or dMMR; Multiple primary malignant tumors;
Esophageal squamous cell carcinoma	Gene detection	Family History of Malignancy; Multiple primary malignant tumors; MSI or dMMR;

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Beijing Cancer Hospital; 🇨🇳 Beijing, Beijing, China