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


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

Full Title of Study: “Research for Associated Genes for Developing Gastric Cancer in Family Member With First-Degree Relatives of Gastric Cancer”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 31, 2022

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


  • Diagnostic Test: Positive result from pathological test
    • Presence/absence of gastric cancer will be evaluated by upper gastroendoscopy or results of pathological test

Arms, Groups and Cohorts

  • Gastric cancer
    • Pathologically proven diseases after upper gastroendoscopy and biopsy. Previous pathological reports and endoscopic image can be used.
  • non-gastric cnacer
    • Rull out gastric cancer by upper gastroendoscopy. The results 3 moths before enrollment is available.

Clinical Trial Outcome Measures

Primary Measures

  • 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.

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Seoul National University Bundang Hospital
  • Provider of Information About this Clinical Study
    • Principal Investigator: Nayoung Kim, Professor – Seoul National University Bundang Hospital

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