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

NCT ID: NCT03486574

Last Updated: 2023-04-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

105 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-12-07

Study Completion Date

2022-12-31

Brief Summary

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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

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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

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Gastric Cancer Genetic Predisposition

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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Gastric cancer

Pathologically proven diseases after upper gastroendoscopy and biopsy. Previous pathological reports and endoscopic image can be used.

Positive result from pathological test

Intervention Type DIAGNOSTIC_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.

No interventions assigned to this group

Interventions

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Positive result from pathological test

Presence/absence of gastric cancer will be evaluated by upper gastroendoscopy or results of pathological test

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Seoul National University Bundang Hospital

OTHER

Sponsor Role lead

Responsible Party

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Nayoung Kim

Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Seoul National University Bundang Hospital

Seongnam-si, Gyeonggi-do, South Korea

Site Status

Countries

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South Korea

Other Identifiers

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B-1610/366-303

Identifier Type: -

Identifier Source: org_study_id

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