Pancreatic Cancer Genetics | NCT01102569

Studies
Pancreatic Cancer Genetics

NCT01102569

Sponsor

Columbia University

Status

Recruiting

Last Update Posted

May 6, 2026Actual

Enrollment

100Estimated

Phase

Not provided

Conditions

Pancreatic Cancer

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 2008

Primary Completion Date

Dec 2026Estimated

Completion Date

Dec 2027Estimated

First Submitted Date

Apr 12, 2010

First Submission Date that Met QC Criteria

Apr 12, 2010

First Posted Date

Apr 13, 2010Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 30, 2026

Last Update Posted Date

May 6, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

100Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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.

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Measure	Description	Time Frame
Individual Frequency of Three Mutations	Individual frequency of these mutations three mutations BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) mutations.	1 year
Frequency of disease modifying mutations

Other Outcomes

Not provided

Eligibility Module

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

85 Years

Standard Ages

AdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Fay Kastrinos, MD	Contact	212-305-1021		fk18@columbia.edu
Vilma Rosario	Contact	212-305-6033		vr2222@columbia.edu

Overall Officials

Name	Affiliation	Role
Fay Kastrinos, MD	Columbia University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Columbia University Medical Center	Recruiting	New York	New York	10032	United States

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D010190	Pancreatic Neoplasms
C535837	Pancreatic carcinoma, familial

Ancestor Terms

ID	Term
D004067	Digestive System Neoplasms
D009371	Neoplasms by Site
D009369	Neoplasms
D004701	Endocrine Gland Neoplasms

Browse Leaves

Not provided

Browse Branches

Not provided

Description

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.