Genetic Evaluation of Families With Endocrine Cancers

Study Overview
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Brief Summary
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This study is being conducted to identify altered genetic factors that may exist and influence endocrine cancers in unrelated MEN1 families with different cancers. A grading system will be developed for endocrine cancers, including pancreatic cancers, thymus gland cancers, parathyroid disease and MEN1 syndrome as low-risk and high-risk to improve screening and timing of surgery.

Detailed Description
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Participants will be sent a personal medical questionnaire and family history questionnaire to complete prior to their visit. Participants will meet with a genetic counselor face-to-face for up to 120 minutes to complete a personal and family history. Participants will receive genetic counseling including education about MEN1 syndrome and recommendations for the management of this disease. The genetic counselor will also assist participants with coping mentally. The genetic counselor will review the risk, benefits and limitations of genetic testing. After study eligibility is confirmed and the participant agrees to participate in the study, approximately 10 ml (2 teaspoons) of blood will be taken from the participant for genetic testing. Tumor samples from any prior surgeries will be requested from the Jersey Shore University Medical Center pathology department for review. The participant's blood sample and any tumor samples will be assigned a unique identifier. Participants will not be identified by name. This identifier, along with the participant's age, sex, ethnicity and if applicable, age of cancer diagnosis (or MEN1 syndrome diagnosis) will be kept at Jersey Shore University Medical Center research department. Medical records will be reviewed for demographics, known cancer risk factors, family history, age and stage at diagnosis of disease, tumor characteristics, previous and current treatments, medication history, test and study results, and pathology/surgery reports. Blood and tumor samples will be sent to the Functional Genomics Facility at The Cancer Institute of New Jersey and Rutgers University Cell & DNA Repository for processing and/or analysis to identify the genetic pattern in patients at risk for MEN1. The result of the genetic test for the MEN1 gene will be provided to the participant by either the genetic counselor or study doctor. The genetic counselor or study doctor will interrupt the results for the participant and provide emotional support, if necessary. The results of any altered genes will not be disclosed to the participant. Medical records will be reviewed annually to determine the status of the participant's disease, if any. Participants will be contacted directly by phone or in person at follow-up clinic visit(s) for the collection of information not recorded in the participant's medical record for up to 20 years.

Official Title
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A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers

Conditions
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Pancreatic Cancer, Thymic Cancer, Parathyroid Disease, MEN1 Syndrome

Intervention / Treatment
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* Genetic: Blood draw


Participation Criteria
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Eligibility Criteria
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Eligibility Criteria: Age ≥ 13 years. A signed written informed consent Existing patients and their family members of Investigators with MEN1 syndrome. Willing to undergo venipuncture to obtain 10 ml of blood and complete genetic counseling and informed consent process.

Ages Eligible for Study
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Minimum Age: 13 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Family 1<br>Approximately a 10 ml of blood draw will be taken from each participant for genetic testing. | Genetic: Blood draw<br>* Blood draw<br>|
| Family 2<br>Approximately a 10 ml of blood draw will be taken from each participant for genetic testing. | Genetic: Blood draw<br>* Blood draw<br>|
| Family 3<br>Approximately a 10 ml of blood draw will be taken from each participant for genetic testing. | Genetic: Blood draw<br>* Blood draw<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Modified genetic factors that exist and may influence the phenotypic presentation of disease in unrelated MEN 1 families. | To identify modifying genetic factors that exist and that may influence phenotypic presentation of the disease in unrelated MEN 1 families with different clinical presentation of the disease. | Within 3 Months from blood draw | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Pancreatic cancer, Thymic cancer, Parathyroid disease, MEN1 syndrome, Genomic DNA, MEN1 gene sequence