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Molecular Genetics and Epidemiology of Pancreatic Cancer in Ashkenazi Jewish Patients


N/A
18 Years
85 Years
Open (Enrolling)
Both
Pancreatic Cancer

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Trial Information

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
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.

Type of Study:

Observational

Study Design:

Observational Model: Cohort, Time Perspective: Prospective

Outcome Measure:

Frequency of Three BRCA1/2 Mutations in Ashkenazi Jewish Patients

Outcome Description:

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.

Outcome Time Frame:

1 year

Safety Issue:

No

Principal Investigator

Wendy K Chung, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Columbia University

Authority:

United States: Institutional Review Board

Study ID:

AAAC6344

NCT ID:

NCT01102569

Start Date:

May 2007

Completion Date:

August 2012

Related Keywords:

  • Pancreatic Cancer
  • Hereditary pancreatic cancer
  • Breast and Ovarian Cancer Syndrome
  • BRCA1/2
  • Ashkenazi Jewish patients
  • Pancreatic Neoplasms

Name

Location

Columbia University Medical CenterNew York, New York  10032