NCT03486574

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

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 105 (actual)
• Sponsor: Seoul National University Bundang Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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

Conditions

• Gastric Cancer
• Genetic Predisposition

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Positive result from pathological test	Presence/absence of gastric cancer will be evaluated by upper gastroendoscopy or results of pathological test

Timeline

• Start date: 2016-12-07
• Primary completion: 2022-07-31
• Completion: 2022-12-31
• First posted: 2018-04-03
• Last updated: 2023-04-18

Locations

1 site across 1 country: South Korea