Research for Associated Genes for Gastric Cancer in Family Member With Affected First-Degree Relatives
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|ClinicalTrials.gov Identifier: NCT03486574|
Recruitment Status : Enrolling by invitation
First Posted : April 3, 2018
Last Update Posted : April 16, 2019
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|
|Gastric Cancer Genetic Predisposition||Diagnostic Test: Positive result from pathological test|
1> Patient selection
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 Type :||Observational|
|Estimated Enrollment :||110 participants|
|Official Title:||Research for Associated Genes for Developing Gastric Cancer in Family Member With First-Degree Relatives of Gastric Cancer|
|Actual Study Start Date :||December 7, 2016|
|Estimated Primary Completion Date :||December 31, 2022|
|Estimated Study Completion Date :||December 31, 2022|
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
Rull out gastric cancer by upper gastroendoscopy. The results 3 moths before enrollment is available.
- 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.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03486574
|Korea, Republic of|
|Seoul National University Bundang Hospital|
|Seongnam-si, Gyeonggi-do, Korea, Republic of, 463-707|