Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer
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|ClinicalTrials.gov Identifier: NCT03030404|
Recruitment Status : Recruiting
First Posted : January 25, 2017
Last Update Posted : June 7, 2023
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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.
-To gather data about hereditary gastric cancer.
- 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.
- Participants will be screened in a separate protocol.
Participants will have:
- Physical exam
- Medical history
- Blood tests
- 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|
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).
Characterize the natural and clinical histories of hereditary gastric cancer syndromes.
Individuals, and family members, who fulfill clinical criteria for a hereditary gastric cancer syndrome irrespective of previous genetic testing or treatment.
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 Type :||Observational|
|Estimated Enrollment :||1150 participants|
|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|
Subjects with suspicious personal or family medical history of gastric cancer or gastric cancer syndrome.
- 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
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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|
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
- 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.
- Ability of subject or legally authorized representative (LAR) to understand and the willingness to sign a written informed consent document.
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
|Contact: Jamie Kirkpatrick, R.N.||(240) firstname.lastname@example.org|
|Contact: Jeremy L Davis, M.D.||(240) email@example.com|
|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|
|Principal Investigator:||Jeremy L Davis, M.D.||National Cancer Institute (NCI)|
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
|Responsible Party:||National Cancer Institute (NCI)|
|Other Study ID Numbers:||
|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.|
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.|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Genetics and Germline Mutations
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Neoplasms by Site
Digestive System Diseases