Research for Associated Genes for Developing Gastric Cancer in Family Member With First-Degree Relatives of Gastric Cancer
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Gastric Cancer
- Sponsor
- Seoul National University Bundang Hospital
- Enrollment
- 105
- Locations
- 1
- Primary Endpoint
- Genes with logarithm of odds (LOD)>2 in linkage analysis
- Status
- Completed
- Last Updated
- 3 years ago
Overview
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
Investigators
Nayoung Kim
Professor
Seoul National University Bundang Hospital
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Genes with logarithm of odds (LOD)>2 in linkage analysis
Time Frame: 0 day (baseline)
Based on LOD at baseline, candidate genes will be selected.