Pancreatic Cancer Genetics
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Molecular Genetics and Epidemiology of Pancreatic Cancer in Ashkenazi Jewish Patients|
- 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.
- 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.
|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.
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01102569
|Contact: Fay Kastrinos, MDfirstname.lastname@example.org|
|Contact: Vilma Rosarioemail@example.com|
|United States, New York|
|Columbia University Medical Center||Recruiting|
|New York, New York, United States, 10032|
|Contact: Fay Kastrinos, MD 212-305-1021 firstname.lastname@example.org|
|Contact: Vilma Rosario 212-305-6033 email@example.com|
|Principal Investigator: Fay Kastrinos, MD|
|Principal Investigator:||Fay Kastrinos, MD||Columbia University|