Pancreatic Cancer Genetics

NCT01102569 | Recruiting

• 1 other identifier: AAAC6344
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Pancreatic Cancer

Keywords

Hereditary pancreatic cancer; Breast and Ovarian Cancer Syndrome; BRCA1/2; Ashkenazi Jewish patients

Outcome Measures

Primary Outcomes (1)

• 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.

  1 year

Secondary Outcomes (2)

• Individual Frequency of Three Mutations

  1 year

• Frequency of disease modifying mutations

  1 year

Study Arms (1)

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.

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Study subjects will be pancreatic cancer patients at CUMC who are of Ashkenazi Jewish descent.

You may qualify if:

• 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).

You may not qualify if:

• Inability to provide informed consent.
• Under the age of 18 years old.

Sponsors & Collaborators

• Columbia University: lead

Study Sites (1)

Columbia University Medical Center

New York, New York, 10032, United States

RECRUITING

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 Columbia University Medical Center 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.

MeSH Terms

Conditions

Pancreatic Neoplasms; Pancreatic carcinoma, familial

Condition Hierarchy (Ancestors)

Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Endocrine Gland Neoplasms; Digestive System Diseases; Pancreatic Diseases; Endocrine System Diseases

Study Officials

• Fay Kastrinos, MD

  Columbia University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Fay Kastrinos, MD

CONTACT

212-305-1021; fk18@columbia.edu

Vilma Rosario

CONTACT

212-305-6033; vr2222@columbia.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 12, 2010
• First Posted: April 13, 2010
• Study Start: January 1, 2008
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2027
• Last Updated: May 6, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)