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A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers


N/A
13 Years
N/A
Open (Enrolling by invite only)
Both
Pancreatic Cancer, Thymic Cancer, Parathyroid Disease, MEN1 Syndrome

Thank you

Trial Information

A Pilot Study of Genetic Evaluation of Families With Endocrine Cancers


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
Sequencing and Microarray Core Facility at Princeton University 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.

Inclusion Criteria


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.

Type of Study:

Observational

Study Design:

Observational Model: Family-Based, Time Perspective: Prospective

Outcome Measure:

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

Outcome Description:

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.

Outcome Time Frame:

Within 3 Months from blood draw

Safety Issue:

No

Principal Investigator

Alexander Shifrin, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Jersey Shore University Medical Center

Authority:

United States: Institutional Review Board

Study ID:

IIU03-07

NCT ID:

NCT01794676

Start Date:

March 2013

Completion Date:

June 2013

Related Keywords:

  • Pancreatic Cancer
  • Thymic Cancer
  • Parathyroid Disease
  • MEN1 Syndrome
  • Pancreatic cancer
  • Thymic cancer
  • Parathyroid disease
  • MEN1 syndrome
  • Genomic DNA
  • MEN1 gene sequence
  • Multiple Endocrine Neoplasia Type 1
  • Pancreatic Neoplasms
  • Parathyroid Diseases
  • Thymus Neoplasms
  • Endocrine Gland Neoplasms

Name

Location

Jersey Shore University Medical Center Neptune, New Jersey  07754