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Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03030404
Recruitment Status : Recruiting
First Posted : January 25, 2017
Last Update Posted : June 7, 2023
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Study Description
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Brief Summary:

Background:

Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers. They want to learn about changes these cause in the body and about the genes involved.

Objective:

-To gather data about hereditary gastric cancer.

Eligibility:

  • People at least 2 years old with personal or family history with a hereditary gastric cancer.
  • People at least 2 years old with gene changes that lead to such cancer or a lesion that may be hereditary.

Design:

  • Participants will be screened in a separate protocol.

  • Participants will have:

    • Physical exam
    • Medical history
    • Blood tests
    • Scans
    • Photos of skin lesions and other findings
    • Gynecology consultation for women
    • Cheek swab (some participants)
  • For some participants, their relatives will be asked to join the study.
  • Some participants will be asked to allow the study to get stored tissue samples for relatives who have died.
  • Some samples will be sent to outside labs. All personal data will be protected. Samples will be destroyed when the study ends.
  • Participants will get the results of genetic testing.
  • Participants who cannot come to the NIH clinic may just give a cheek swab and have genetic testing done.
  • Some participants will be contacted for more testing.

Condition or disease
Stomach Neoplasms Stomach Cancer Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) Hereditary Diffuse Gastric Cancer (HDGC) Familial Diffuse Gastric Cancer

Detailed Description:

Background:

An estimated 1-3% of gastric cancer cases occur within a familial background as part of an inherited cancer syndrome.

Hereditary Diffuse Gastric Cancer (HDGC) is the most frequent form of familial gastric cancer and has been linked to a germline mutation in the CDH1 gene.

Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) is a more recently described autosomal dominant syndrome characterized by fundic gland polyposis with antral sparing.

Other germline mutations that predispose to gastric cancer such as SDH (succinate dehydrogenase protein subunits) gene and CTNNA1 (alpha catenin).

Objectives:

Characterize the natural and clinical histories of hereditary gastric cancer syndromes.

Eligibility:

Individuals, and family members, who fulfill clinical criteria for a hereditary gastric cancer syndrome irrespective of previous genetic testing or treatment.

Design:

These rare families will be recruited to genetically confirm diagnosis and study the natural history of hereditary gastric cancers.

Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations.

We will determine if there is a relationship between mutation and disease phenotype.

Study Design
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Study Type : Observational
Estimated Enrollment : 1150 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer
Actual Study Start Date : January 27, 2017
Estimated Primary Completion Date : December 31, 2026
Estimated Study Completion Date : December 31, 2026

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Stomach Cancer

Groups and Cohorts
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Group/Cohort
Cohort 1
Subjects with suspicious personal or family medical history of gastric cancer or gastric cancer syndrome.


Outcome Measures
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Primary Outcome Measures :
  1. Characterization of the natural and clinical histories of hereditary gastric cancer syndromes [ Time Frame: 10 years ]
    Characterization of the natural and clinical histories of hereditary gastric cancer syndromes


Eligibility Criteria
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Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Individuals, and family members, who fulfill clinical criteria for a hereditary gastric cancer syndrome irrespective of previous genetic testing or treatment
Criteria

-INCLUSION CRITERIA:

  1. An individual, or their family members, with any of the following:

    • Fulfills clinical criteria for Hereditary Diffuse Gastric Cancer (HGDC) syndrome or Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) syndrome
    • Clinically suspicious personal or family medical history of gastric cancer or gastric cancer syndrome that warrants genetics evaluation
    • Current diagnosis of gastric cancer and a germline mutation associated with a known cancer syndrome or an associated family history of gastric cancer
    • Harbors a pathogenic germline mutation known to predispose to gastric cancer
    • First-degree relatives, regardless of family history or personal history of cancer, with a documented deleterious germline mutation (including but not limited to CDH1, CTNNA1, SDH) known to predispose to gastric tumors
    • Diagnosis or suspicion of a premalignant or malignant stomach lesion of suspected hereditary etiology
  2. Age greater than or equal to 18 years; patients under 18 years of age and greater than or equal to the age of 2 may participate if the tissue acquisition is performed during a clinically indicated surgical procedure, and the sampling of tissue, blood and urine collection does not add risk to the clinically indicated procedures.
  3. Ability of subject or legally authorized representative (LAR) to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

-None

Contacts and Locations
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Information from the National Library of Medicine

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): NCT03030404


Contacts
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Contact: Jamie Kirkpatrick, R.N. (240) 760-7533 foregut@mail.nih.gov
Contact: Jeremy L Davis, M.D. (240) 858-3731 jeremy.davis@nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    888-624-1937      
Sponsors and Collaborators
National Cancer Institute (NCI)
Investigators
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Principal Investigator: Jeremy L Davis, M.D. National Cancer Institute (NCI)
More Information
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Additional Information:

Publications:
van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, Caldas C, Schreiber KE, Hardwick RH, Ausems MG, Bardram L, Benusiglio PR, Bisseling TM, Blair V, Bleiker E, Boussioutas A, Cats A, Coit D, DeGregorio L, Figueiredo J, Ford JM, Heijkoop E, Hermens R, Humar B, Kaurah P, Keller G, Lai J, Ligtenberg MJ, O'Donovan M, Oliveira C, Pinheiro H, Ragunath K, Rasenberg E, Richardson S, Roviello F, Schackert H, Seruca R, Taylor A, Ter Huurne A, Tischkowitz M, Joe ST, van Dijck B, van Grieken NC, van Hillegersberg R, van Sandick JW, Vehof R, van Krieken JH, Fitzgerald RC. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015 Jun;52(6):361-74. doi: 10.1136/jmedgenet-2015-103094. Epub 2015 May 15.

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: National Cancer Institute (NCI)
ClinicalTrials.gov Identifier: NCT03030404    
Other Study ID Numbers: 170043
17-C-0043
First Posted: January 25, 2017    Key Record Dates
Last Update Posted: June 7, 2023
Last Verified: May 22, 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: .All IPD recorded in the medical record will be shared with intramural investigators upon request. @@@@@@In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Time Frame: Clinical data available during the study and indefinitely.@@@@@@Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.
Access Criteria: Clinical data will be made available via subscription to BTRIS and with the permission of the study PI. @@@@@@Genomic data are made available via dbGaP through requests to the data custodians.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Genetics and Germline Mutations
Familial Background
Inherited Cancer Syndrome
 Germline Mutation in the CDH1 Gene
Lobular Breast Cancer
Natural History
Additional relevant MeSH terms:
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Stomach Neoplasms
Disease Susceptibility
Pathologic Processes
Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms
 Neoplasms by Site
Digestive System Diseases
Gastrointestinal Diseases
Stomach Diseases
Disease Attributes