Research for Associated Genes for Gastric Cancer in Family Member With Affected First-Degree Relatives
Study Details
Study Description
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
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Detailed Description
1> Patient selection
Enroll criteria:
- 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 Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Gastric cancer Pathologically proven diseases after upper gastroendoscopy and biopsy. Previous pathological reports and endoscopic image can be used. |
Diagnostic Test: Positive result from pathological test
Presence/absence of gastric cancer will be evaluated by upper gastroendoscopy or results of pathological test
|
| non-gastric cnacer Rull out gastric cancer by upper gastroendoscopy. The results 3 moths before enrollment is available. |
Outcome Measures
Primary Outcome Measures
- Genes with logarithm of odds (LOD)>2 in linkage analysis [0 day (baseline)]
Based on LOD at baseline, candidate genes will be selected.
Eligibility Criteria
Criteria
Inclusion Criteria :
-
Gastric cancer patients and their first-degree relatives
-
Members in family with two or more gastric cancer patients within three- generation pedigree
Exclusion Criteria :
- Those who reject the enrollment
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Seoul National University Bundang Hospital | Seongnam-si | Gyeonggi-do | Korea, Republic of | 463-707 |
Sponsors and Collaborators
- Seoul National University Bundang Hospital
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- B-1610/366-303