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2008-01
2026-12
2027-12
100
NCT01102569
Columbia University
Columbia University
OBSERVATIONAL
Pancreatic Cancer Genetics
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 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.
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
| Study Registration Dates | Results Reporting Dates | Study Record Updates |
|---|---|---|
2010-04-12 | N/A | 2025-04-30 |
2010-04-12 | N/A | 2025-05-02 |
2010-04-13 | N/A | 2025-04 |
This section provides details of the study plan, including how the study is designed and what the study is measuring.
Primary Purpose:
N/A
Allocation:
N/A
Interventional Model:
N/A
Masking:
N/A
Arms and Interventions
| Participant Group/Arm | Intervention/Treatment |
|---|---|
| : 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. |
| Primary Outcome Measures | Measure Description | Time Frame |
|---|---|---|
| Frequency of Three BRCA1/2 Mutations in Ashkenazi Jewish Patients | 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. | 1 year |
| Secondary Outcome Measures | Measure Description | Time Frame |
|---|---|---|
| Individual Frequency of Three Mutations | Individual frequency of these mutations three mutations BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) mutations. | 1 year |
| Frequency of disease modifying mutations | Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A. | 1 year |
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
|
Study Contact Name: Fay Kastrinos, MD Phone Number: 212-305-1021 Email: fk18@columbia.edu |
Study Contact Backup Name: Vilma Rosario Phone Number: 212-305-6033 Email: vr2222@columbia.edu |
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person’s general health condition or prior treatments.
Ages Eligible for Study:
ALL
Sexes Eligible for Study:
18 Years
Accepts Healthy Volunteers:
This is where you will find people and organizations involved with this study.
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
No publications available
