Pancreatic Cancer Genetics

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.

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.