Molecular Genetics and Epidemiology of Pancreatic Cancer in Ashkenazi Jewish Patients
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. We plan to study 385 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
Observational Model: Cohort, Time Perspective: Prospective
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.
Wendy K Chung, MD
United States: Institutional Review Board
|Columbia University Medical Center||New York, New York 10032|