Pancreatic Cancer Genetics

The recruitment status of this study is unknown because the information has not been verified recently.
Verified July 2012 by Columbia University.
Recruitment status was  Recruiting
Sponsor:
Information provided by (Responsible Party):
Wendy K. Chung, Columbia University
ClinicalTrials.gov Identifier:
NCT01102569
First received: April 12, 2010
Last updated: July 2, 2012
Last verified: July 2012
  Purpose

The aim of this study is to determine the frequency of the three most common BRCA1 and BRCA2 genetic mutations that are commonly found in Ashkenazi Jewish patients with pancreatic cancer. Testing for BRCA1 and BRCA2 mutations in relatives of hereditary pancreatic cancer patients may have a significant impact; allowing for early screening, treatment, and resection of pre-malignant tissue or malignant lesions.


Condition
Pancreatic Cancer

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Molecular Genetics and Epidemiology of Pancreatic Cancer in Ashkenazi Jewish Patients

Resource links provided by NLM:


Further study details as provided by Columbia University:

Primary Outcome Measures:
  • Frequency of Three BRCA1/2 Mutations in Ashkenazi Jewish Patients [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    The primary aim of this study is to determine the combined frequency of BRCA1 (185delAG, 5382insC) and BRCA2(6174delT) mutations in Ashkenazi Jewish pancreatic cancer patients.


Secondary Outcome Measures:
  • Individual Frequency of Three Mutations [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Individual frequency of these mutations three mutations BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) mutations.

  • Frequency of disease modifying mutations [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.

  • Other Variables in Patients with Positive Mutations [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Study death from any cause, disease-free survival, stage of disease at time of presentation (Pan-In Stage 1-3 and tumor stages), differences in tissue pathology, risk factors, treatment decisions, and development of another malignancy in patients with positive mutations.


Biospecimen Retention:   Samples With DNA
  • Peripheral Blood Specimens: Three tubes of blood will be collected from each study participant. Two tubes will be EDTA-whole blood and one tube will be serum. Each tube will contain ~4-5 ml. A portion of the blood will be utilized to extract white blood cells that will be immortalized by EBV infection.
  • Archived Fixed Tissue Samples: Tissue blocks from surgery performed at CUMC or elsewhere, will be requested after obtaining consent for study participation.
  • Fresh Tissue Collection: At the time of surgery for tumor resection, tumor and adjacent normal tissue will be requested from the Pathology Department. At the time of endoscopy, aspirated fluid or biopsied tissue will be requested. No additional tissue will be resected beyond that required for surgical or endoscopic management.
  • Genetic Testing: All genetic testing will be performed in a research laboratory. Test results from research laboratories will not be disclosed to patients.

Estimated Enrollment: 325
Study Start Date: May 2007
Estimated Study Completion Date: August 2012
Estimated Primary Completion Date: August 2012 (Final data collection date for primary outcome measure)
Detailed Description:

Pancreatic cancer is the fourth leading cause of death from malignancy in the United States. Up to 15% of pancreatic cancers have a hereditary component. Several gene mutations and cancer syndromes have been identified that are frequently found in greater frequency in individuals with pancreatic cancer, including the breast ovary cancer syndrome (BRCA1/BRCA2 mutations). No studies adequately describe the epidemiology of inherited pancreatic cancer and genetic risk factors that may modify the penetrance of BRCA1/BRCA2 mutations. The primary aim of this study is to determine the frequency of BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) mutations in Ashkenazi Jewish pancreatic cancer patients. Secondary endpoints will include determining the individual frequency of these mutations and other disease-modifying mutations, death from any cause, disease-free survival, and stage of disease at time of presentation, differences in tissue pathology, risk factors, treatment decisions and development of metachronous malignancies. We plan to study 385 patients, which will enable the true frequency of the mutation to be estimated. Although the impact of BRCA1/BRCA2 mutations will be initially studied in the Ashkenazi population, these data will be widely applicable to other pancreatic cancer patients carrying BRCA1/BRCA2 mutations. Testing for BRCA1 and BRCA2 mutations in relatives of hereditary pancreatic cancer patients may allow early screening, treatment, and resection of pre-malignant tissue or malignant lesions.

  Eligibility

Ages Eligible for Study:   18 Years to 85 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Study subjects will be pancreatic cancer patients at CUMC who are of Ashkenazi Jewish descent.

Criteria

Inclusion Criteria:

  • Patients diagnosed with pancreatic cancer.
  • Patients are of Ashkenazi Jewish descent.
  • Patients have been Columbia Pancreatic Cancer Prevention Program Registry and Tissue Bank for High-Risk Individuals (IRB-AAAA6154).

Exclusion Criteria:

  • Inability to provide informed consent.
  • Under the age of 18 years old.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01102569

Contacts
Contact: Wendy K Chung, MD wkc15@columbia.edu
Contact: Ashley Dikos ajd2147@columbia.edu

Locations
United States, New York
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Wendy K Chung, MD       wkc15@columbia.edu   
Contact: Ashley Dikos       ajd2147@columbia.edu   
Principal Investigator: Wendy K Chung, MD         
Sponsors and Collaborators
Columbia University
Investigators
Principal Investigator: Wendy K Chung, MD Columbia University
  More Information

No publications provided

Responsible Party: Wendy K. Chung, Assistant Professor of Pediatrics, Molecular Genetics, Columbia University
ClinicalTrials.gov Identifier: NCT01102569     History of Changes
Other Study ID Numbers: AAAC6344, AAAC-6344(Y3M00)
Study First Received: April 12, 2010
Last Updated: July 2, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Columbia University:
Hereditary pancreatic cancer
Breast and Ovarian Cancer Syndrome
BRCA1/2
Ashkenazi Jewish patients

Additional relevant MeSH terms:
Pancreatic Neoplasms
Digestive System Neoplasms
Neoplasms by Site
Neoplasms
Endocrine Gland Neoplasms
Digestive System Diseases
Pancreatic Diseases
Endocrine System Diseases

ClinicalTrials.gov processed this record on September 30, 2014