Columbia University
The aim of this study is to determine the frequency of the three most common BReast CAncer gene 1 (BRCA1) and BReast CAncer gene 2 (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
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 plans 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.
| Study Type : | OBSERVATIONAL |
| Estimated Enrollment : | 100 participants |
| Official Title : | Molecular Genetics and Epidemiology of Pancreatic Cancer in Ashkenazi Jewish Patients |
| Actual Study Start Date : | 2008-01 |
| Estimated Primary Completion Date : | 2026-12 |
| Estimated Study Completion Date : | 2027-12 |
Information not available for Arms and Intervention/treatment
| Ages Eligible for Study: | 18 Years to 85 Years |
| Sexes Eligible for Study: | ALL |
| Accepts Healthy Volunteers: |
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RECRUITING
Columbia University Medical Center
New York, New York, United States, 10032