Genetic Evaluation of Families With Endocrine Cancers

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.

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Key information

Conditions

Pancreatic Cancer Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Digestive System Neoplasms Endocrine Gland Neoplasms Endocrine System Diseases Genetic Diseases, Inborn Hemic and Lymphatic Diseases Lymphatic Diseases MEN1 Syndrome Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Type 1 Neoplasms Neoplasms by Site Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Pancreatic Diseases Pancreatic Neoplasms Parathyroid Disease Parathyroid Diseases Thoracic Neoplasms Thymic Cancer Thymus Neoplasms

Age range

13 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Jersey Shore University Medical Center

Neptune City, New Jersey, 07753, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Blood Draw

Genetic

Blood draw

Primary outcomes

Modified genetic factors that exist and may influence the phenotypic presentation of disease in unrelated MEN 1 families.

Time frame: Within 3 Months from blood draw

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.

Sponsors and collaborators

Lead sponsor

Jersey Shore University Medical Center

Other

Collaborators

Rutgers Cancer Institute of New Jersey
Rutgers University

Registry information

Official study title

A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers

Acronym: MEN1

Important dates

Study start: 2013
Primary completion: 2015
Study completion: 2015
First posted: Feb 20, 2013
Registry last updated: Jun 16, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed