Neoplasms

All Conditions

Digestive System Diseases

Skin and Connective Tissue Diseases

Symptoms and General Pathology

Diseases and Abnormalities at or Before Birth

Rare Diseases

Adenocarcinoma

Stomach Neoplasms

Breast Neoplasms

Syndrome

Disease Susceptibility

Neoplastic Syndromes, Hereditary

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Stomach Diseases

Disease Attributes

Stomach Cancer

Diffuse Gastric Cancer

Hereditary Diffuse Gastric Cancer

Subjects with suspicious personal or family medical history of gastric cancer or gastric cancer syndrome.

Jamie Kirkpatrick, R.N.

Jeremy L Davis, M.D.

For more information at the NIH Clinical Center contact National Cancer Institute Referral Office

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.

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.

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

.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.

Characterization of the natural and clinical histories of hereditary gastric cancer syndromes

National Cancer Institute (NCI)

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Gland and Hormone Related Diseases

Carcinoma

Ovarian Neoplasms

Carcinoma, Ovarian Epithelial

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Endocrine Gland Neoplasms

Ovarian Diseases

Adnexal Diseases

Genital Diseases, Female

Genital Diseases

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Genital Neoplasms, Female

Urogenital Neoplasms

Endocrine System Diseases

Gonadal Disorders

Ovarian Cancer

Ovarian Epithelial Cancer

Gastrointestinal Agents

All Drugs and Chemicals

Pancrelipase

Pancreatin

Receive decision aid followed by an appointment with their oncologist.

Receive pretest counseling with a genetic counselor.

Decision aid followed by an appointment with an oncologist. Will complete surveys/questionnaires

Electronic Decision Aid

Receive pretest counseling with a genetic counselor. Will complete surveys/questionnaires

Pre-Test Genetic Counseling

Daniel C. Chung, MD

Danielle A Lynch, BS

Sara Bouberhan, MD

This is a randomized trial to evaluate the effectiveness of an electronic decision aid tool versus a traditional genetic counselor session for multi-gene panel testing for people with ovarian or pancreatic cancer

The research study procedures include: screening for eligibility and study questionnaires that would be performed in conjunction with either the genetic counselor visit or use of the electronic decision aid. The study questionnaires include:

* Knowledge Survey
* Shared Decision Making Process Survey
* Decisional Conflict Scale

The research study will last up to 2 weeks. It is expected that about 350 people will take part in this research study.

The National Cancer Institute (NCI) is supporting this research study by providing funding for the research

Genetic Testing Decision Aid

Randomized, Controlled Trial of an Electronic Decision Aid for Genetic Testing in Inherited Cancer Syndromes

The Dana-Farber / Harvard Cancer Center encourages and supports the responsible and ethical sharing of data from clinical trials. De-identified participant data from the final research dataset used in the published manuscript may only be shared under the terms of a Data Use Agreement. Requests may be directed to Sponsor Investigator or designee. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.

Average change in score on a 10-question knowledge survey to assess basic information about genetics and genetic testing that was covered in their appointment. Scores on the scale range from 0-10. Higher values in the change in knowledge survey score suggest greater amount of knowledge gained in the genetics session.

The decisional conflict score is a score ranging from 0-100 that is measured from a 10-question validated decisional conflict scale. The scale assesses participant's confidence in their decision with higher scores indicating higher decisional conflict.

The shared decision making process score is a score on a scale of 1-4 based on responses on a validated 4-item shared-decision making scale. The scale assesses how well the decision aid/oncology provider, or the genetic counselor engaged in shared decision-making as perceived by the subject. Higher scores on this scale indicate more shared decision making.

Difference between the two study arms in the time it takes between participants being recommended for genetic testing and a sample being collected.

Amount of time patients spend learning and making a decision about genetic testing in both arms of the study.

Ratios of participants who choose the small, intermediate, and broad testing panel in both arms of the study.

Percentage of participants in each arm of the study who choose to get genetic testing after the educational intervention

Massachusetts General Hospital

Principal Investigator

Musculoskeletal Diseases

Thyroid Neoplasms

Thyroid Diseases

Pheochromocytoma

Paraganglioma

Osteosarcoma

Bone Neoplasms

Kidney Neoplasms

Neuroendocrine Tumors

Neuroectodermal Tumors

Neuroectodermal Tumors, Primitive

Neoplasms, Germ Cell and Embryonal

Neoplasms, Nerve Tissue

Urologic Neoplasms

Kidney Diseases

Urologic Diseases

Male Urogenital Diseases

Head and Neck Neoplasms

Bone Diseases

Genetic Diseases, Inborn

Paragangliomas 1

Neuroendocrine Tumor

Neuroepithelioma

Germline and/or tumor samples will be screened for mutations

Genetic screening

Patricia L Dahia, MD,PhD

Patricia L Dahia

Patricia L Dahia, MD, PhD

Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.

Pheochromocytoma and paragangliomas are tumors originated from neuroectoderm cells located in the adrenal or extra-adrenal paraganglia, often leading to increased secretion of hormones known as catecholamines. These tumors represent a potentially curable cause of hypertension and are malignant in about 10-15% of the cases. Approximately 40% of patients with pheochromocytomas and/or paraganglioma have an inherited mutation. In addition, some patients and/or their relatives that are mutation carriers can develop other tumors as part of inherited cancer susceptibility syndromes. Therefore, detection of the susceptibility mutation is important for diagnosis and follow up. However, the susceptibility gene mutation cannot be identified in all cases. Studies that aim to identify novel susceptibility genes for pheochromocytoma are required.

The fist aim of this study is to identify novel pheochromocytoma susceptibility genes. Characterization of such gene(s) can improve our understanding of the pathogenesis pheochromocytoma and paraganglioma and have an impact in diagnosis, therapeutic planning and genetic screening of relatives.

The second aim of this project is to characterize relationships between mutations and clinical features that can provide insights into clinical surveillance and screening of at-risk individuals.

Samples from affected individuals will be obtained as:

* DNA from peripheral blood lymphocytes,
* DNA from tumor tissue, or
* Frozen peripheral blood lymphocytes for nucleic acid purification
* Frozen tumor tissue for nucleic acid purification
* Lymphoblastoid cell lines, if available
* Buccal cells obtained by cheek swab or saliva

Samples from unaffected relatives will be obtained as:

* DNA from peripheral blood lymphocytes, or
* Frozen peripheral blood lymphocytes for nucleic acid purification

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Aggregate data will be available in the form of publications and pertinent data will be deposited in public depositories

Genetic screen detects a mutation that is likely responsible for tumor development

Genetic screen detects other mutations with potential pathogenic effects

Clinical data reveals other features that might associate with the main disease phenotype

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer	NCT03030404	Stomach Neoplas... Stomach Cancer Gastric Adenoca... Hereditary Diff... Familial Diffus...		2 Years -	National Institutes of Health Clinical Center (CC)
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer	NCT03030404	Stomach Neoplas... Stomach Cancer Gastric Adenoca... Hereditary Diff... Familial Diffus...		2 Years -	National Institutes of Health Clinical Center (CC)
Genetic Testing Decision Aid	NCT05470920	Epithelial Ovar... Pancreas Adenoc...	Electronic Deci... Pre-Test Geneti...	18 Years -	Massachusetts General Hospital
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer	NCT03030404	Stomach Neoplas... Stomach Cancer Gastric Adenoca... Hereditary Diff... Familial Diffus...		2 Years -	National Institutes of Health Clinical Center (CC)
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions	NCT03160274	Pheochromocytom... Paraganglioma Inherited Cance... Associated Cond... Kidney Neoplasm... Bone Cancer Thyroid Neoplas... Other Cancer	Genetic screeni...	-	The University of Texas Health Science Center at San Antonio

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