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Pancreatic Cancer Genetics

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2015 by Columbia University
Information provided by (Responsible Party):
Columbia University Identifier:
First received: April 12, 2010
Last updated: July 2, 2015
Last verified: July 2015
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.

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 ]
    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 ]
    Individual frequency of these mutations three mutations BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) mutations.

  • Frequency of disease modifying mutations [ Time Frame: 1 year ]
    Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.

Biospecimen Retention:   Samples With DNA
  • Peripheral Blood Specimens: Three tubes of blood will be collected from each study participant. A portion of the blood will be utilized to extract white blood cells that will be immortalized by Epstein-Barr virus (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: Genetic testing will be performed in a New York State certified research laboratory . Test results from research laboratories will not be disclosed to patients.

Estimated Enrollment: 100
Study Start Date: January 2008
Estimated Study Completion Date: August 2016
Estimated Primary Completion Date: August 2015 (Final data collection date for primary outcome measure)
Pancreatic cancer and Ashkenazi decent
Patients with pancreatic cancer will be asked to join the study if they identify themselves as being of Ashkenazi descent, as well as patients at a high-risk of pancreas cancer based on family history, and will be followed from the time of diagnosis.

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.

The investigator plan to study about 100 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.


Ages Eligible for Study:   18 Years to 85 Years   (Adult, Senior)
Sexes Eligible for Study:   All
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.

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 identifier: NCT01102569

Contact: Fay Kastrinos, MD 212-305-1021
Contact: Vilma Rosario 212-305-6033

United States, New York
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Fay Kastrinos, MD    212-305-1021   
Contact: Vilma Rosario    212-305-6033   
Principal Investigator: Fay Kastrinos, MD         
Sponsors and Collaborators
Columbia University
Principal Investigator: Fay Kastrinos, MD Columbia University
  More Information

Responsible Party: Columbia University Identifier: NCT01102569     History of Changes
Other Study ID Numbers: AAAC6344
Study First Received: April 12, 2010
Last Updated: July 2, 2015

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

Additional relevant MeSH terms:
Pancreatic Neoplasms
Digestive System Neoplasms
Neoplasms by Site
Endocrine Gland Neoplasms
Digestive System Diseases
Pancreatic Diseases
Endocrine System Diseases processed this record on April 28, 2017