Pancreatic Cancer Genetics
Conditions
Pancreatic Cancer
Conditions: official terms
Pancreatic Neoplasms
Conditions: Keywords
Hereditary pancreatic cancer, Breast and Ovarian Cancer Syndrome, BRCA1/2, Ashkenazi Jewish patients
Study Type
Observational
Study Phase
N/A
Study Design
Observational Model: Cohort, Time Perspective: Prospective
Overall Status
Recruiting
Summary
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.
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.
Criteria for eligibility
Healthy Volunteers: No
Maximum Age: 85 Years
Minimum Age: 18 Years
Gender: Both
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.
Location
Columbia University Medical Center
New York, New York, United States
Status: Recruiting
Contact: Fay Kastrinos, MD - 212-305-1021 - fk18@columbia.edu
Start Date
January 2008
Completion Date
August 2016
Sponsors
Columbia University
Source
Columbia University
Record processing date
ClinicalTrials.gov processed this data on July 28, 2015
ClinicalTrials.gov page