Clinical trial NCT01102569: Pancreatic Cancer Genetics
Official title: Molecular Genetics and Epidemiology of Pancreatic Cancer in Ashkenazi Jewish Patients
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Pancreatic Cancer
Keywords: Hereditary pancreatic cancer
Breast and Ovarian Cancer Syndrome
BRCA1/2
Ashkenazi Jewish patients
Lead sponsor: Columbia University
Sponsor class: OTHER
First posted: 2010-04-13
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Maximum age (years): 85
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Study subjects will be pancreatic cancer patients at CUMC who are of Ashkenazi Jewish descent.

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Frequency of Three BRCA1/2 Mutations in Ashkenazi Jewish Patients
timeFrame: 1 year
Secondary outcomes:
measure: Individual Frequency of Three Mutations
timeFrame: 1 year
measure: Frequency of disease modifying mutations
timeFrame: 1 year
Other outcomes:
Locations:
city: New York
country: United States
facility: Columbia University Medical Center
state: New York
Study officials:
affiliation: Columbia University
name: Fay Kastrinos, MD
role: PRINCIPAL_INVESTIGATOR
References: