Research for Associated Genes for Gastric Cancer in Family Member With Affected First-Degree Relatives

Completed

• Conditions: Gastric Cancer; Genetic Predisposition

• Registration Number: NCT03486574
• Lead Sponsor: Seoul National University Bundang Hospital

Brief Summary

Familial gastric cancer accounts for 10% of all cases, but predisposing genetic variations is unknown except for CDH1 mutation.

Because Germline mutation is believed to be a key aspect of cancer predisposition, we plan to recruit persons with 2 or more affected family members in three-generation pedigree. The investigators will perform a whole-exome sequencing using DNA from blood samples of families including gastric cancer patients and non-gastric cancer patients

Detailed Description

1\> Patient selection

Enroll criteria:

1) Gastric cancer patients and their first-degree relatives and 2) family with two or more gastric cancer patients within three-generation pedigree.

A three-generation pedigree will be used for diagnostic consideration or risk assessment of rare variation.

Personal history will be acquired by questionnaire which asks smoking, alcohol intake, dietary preference, socioeconomic information and history of previous eradication of HP. For any family member with gastric cancer, age at diagnosis, histology type, methods of treatment or pathological reports will be evaluated.

2\> Whole exome sequencing, variant annotation, filtering and prioritization After whole exome sequencing, functional annotation of genetic variants will be conducted using ANNOVAR.

3\> Linkage analyses To perform variant and gene-based linkage analysis in pedigrees, data will be analyzed using pedigree-VAAST.

4\> Validation using a genechip

Study Timeline

• Study Start: 2016-12-07
• Study First Submitted: 2018-03-24
• Study First Submitted QC: 2018-03-31
• Study First Posted: 2018-04-03
• Primary Completion: 2022-07-31
• Study Completion: 2022-12-31
• Status Verified: 2023-04
• Last Update Submitted: 2023-04-16
• Last Update Posted: 2023-04-18

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 105

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genes with logarithm of odds (LOD)>2 in linkage analysis	0 day (baseline)	Based on LOD at baseline, candidate genes will be selected.

Trial Locations

Locations (1)

Seoul National University Bundang Hospital; 🇰🇷 Seongnam-si, Gyeonggi-do, Korea, Republic of