A Registry for BRCA Mutation Carriers With Pancreatic Ductal Adenocarcinoma

The purpose of this study is to better understand why pancreatic cancer develops in some people who are known carriers of the gene mutation (an abnormality) called BRCA, or its close relative PALB2. The investigators hope to do this by establishing a BRCA/PALB2 mutation carriers Pancreatic Ductal Adenocarcinoma (the common form of pancreatic cancer) Registry. A registry is a database of information.

Study Overview

• Status: Active, not recruiting
• Conditions: Pancreatic Ductal Adenocarcinoma
• Intervention / Treatment: Behavioral: The risk assessment questionnaire; Other: Blood specimens; Other: tumor tissue samples will be requested

• Study Type: Observational
• Enrollment (Estimated): 600

Contacts and Locations

Study Locations

• Israel
  • Jerusalem, Israel
    • Shaare Zedek Medical Center
  • Rehovot, Israel
    • Weizmann Institute of Science (Specimen Analysis)
  • Tel Litwinsky, Israel
    • Sheba Medical Center
• United States
  • New Jersey
    • Basking Ridge, New Jersey, United States, 07920
      • Memorial Sloan Kettering Basking Ridge
    • Middletown, New Jersey, United States, 07748
      • Memorial Sloan Kettering Monmouth
    • Montvale, New Jersey, United States, 07645
      • Memorial Sloan Kettering Bergen
  • New York
    • Cold Spring Harbor, New York, United States, 11724
      • Cold Springs Harbor Laboratory (Specimen Analysis)
    • Commack, New York, United States, 11725
      • Memorial Sloan Kettering Commack
    • Harrison, New York, United States, 10604
      • Memorial Sloan Kettering Westchester
    • New York, New York, United States, 10065
      • Memorial Sloan Kettering Cancer Center
    • New York, New York, United States
      • Weill Cornell Medical College (Specimen Analysis)
    • Uniondale, New York, United States, 11553
      • Memorial Sloan Kettering Nassau
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104-4283
      • Abramson Cancer Center at University of Pennsylvania Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 21 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

BRCA mutation carriers with PDAC will be identified by the PIs, co-investigators and by the research staff at all participating sites.

Description

Inclusion Criteria:

• BRCA mutation carrier is defined as a person with any mutation of the BRCA gene, including BRCA1, or BRCA2. PALB2mut patients are also eligible.
• Relative of a BRCA PDAC patient is defined as a first-degree relative, which includes, parents, siblings or children.

BRCAmut PDAC Group: Study Group A: Ashkenazi Jewish descent

• Known BRCA mutation carrier.
• Ashkenazi Jewish Descent (at least one parent of Ashkenazi Jewish origin).
• Histologic proof of primary pancreatic ductal adenocarcinoma.
• May have either potentially curable (resectable) primary PDAC, localized but unresectable primary PDAC, or metastatic (stage IV) PDAC.
• Prior personal history of other malignancy; either prior or currently active, including breast , ovarian or prostate cancer is allowed.
• Both previously treated and previously untreated patients are eligible. Previous treatment may include surgical resection, regional radiation therapy, or systemic therapy. Patient may be receiving active therapy.
• Willing to provide blood specimens for correlative studies.
• Willing to provide permission to obtain banked tumor tissue for analysis (previous biopsies or surgical material). New tumor biopsies are not required for entrance into the Registry.

BRCAmut PDAC Group: Study Group B: non-Ashkenazi Jewish descent

• Know n BRCA mutation carrier.
• Histologic proof of primary pancreatic ductal adenocarcinoma.
• May have either potentially curable (resectable) primary PDAC, localized but unresectable primary PDAC, or metastatic (stage IV) PDAC.
• Prior personal history of other malignancy; either prior or currently active, including breast, ovarian, or prostate cancer is allowed.
• Both previously treated and previously untreated patients are eligible. Previous treatment may include surgical resection, regional radiation therapy, or systemic therapy. Patient may be receiving active therapy.
• Willing to provide blood specimens for correlative studies.
• Willing to provide permission to obtain banked tumor tissue for analysis (previous biopsies or surgical material). New tumor biopsies are not required for entrance into the Registry.

BRCA mutation carrier, relative of a BRCA PDAC patients, without PDAC or other BRCAmut related malignancy: (Control Cohort 1A): Ashkenazi Jewish descent

• Known BRCA mutation carrier.
• Ashkenazi Jewish Descent (at least one parent of Ashkenazi Jewish origin).
• No current or prior history of PDAC.
• Relative of a BRCAmut PDAC patient; no prior or active personal history of breast, ovarian, or prostate cancer
• Willing to provide blood specimens for correlative studies.

BRCA mutation carrier, relative of a BRCA PDAC patients, without PDAC or other BRCAmut related malignancy: (Control Cohort 1B): non-Ashkenazi Jewish descent

• Know n BRCA mutation carrier.
• No current or prior history of PDAC.
• First or second degree relative of a BRCAmut PDAC patient; no prior or active personal history of breast, ovarian, or prostate cancer.
• Willing to provide blood specimens for correlative studies.

BRCAmut Carrier relative of a BRCAmut PDAC patient who themselves have prior or active BRCAmut related malignancy (Control Cohort 2A):Ashkenazi Jewish descent

• Known BRCA mutation carrier.
• Ashkenazi Jewish Descent (at least one parent of Ashkenazi Jewish origin).
• No current or prior history of PDAC.
• Relative of a BRCAmut PDAC patient.
• Prior or active personal history of any BRCA-related cancer.
• Willing to provide blood specimens for correlative studies.

BRCAmut Carrier relative of a BRCAmut PDAC patient who themselves have prior or active BRCAmut related malignancy (Control Cohort 2B): non-Ashkenazi Jewish descent

• Know n BRCA mutation carrier.
• No current or prior history of PDAC.
• First or second degree relative of a BRCAmut PDAC patient.
• Prior or active personal history of any BRCA-related cancer.
• Willing to provide blood specimens for correlative studies.

BRCAmut carrier who is not related to a BRCAmut PDAC patient: (Control cohort 3A) Ashkenazi Jewish descent

• Known BRCAmut carrier.
• Ashkenazi Jewish decent (at least one parent of Ashkenazi Jewish origin).
• No current or prior personal history of PDAC.
• Prior personal history of other malignancy including breast, ovarian or prostate cancer is allowed.
• Willing to provide blood specimens for correlative studies.

BRCAmut carrier who is not related to a BRCAmut PDAC patient: (Control cohort 3B) non-Ashkenazi Jewish descent

• Know n BRCAmut carrier.
• No current or prior personal history of PDAC.
• Prior personal history of other malignancy including breast, ovarian, or prostate cancer is allowed.
• Willing to provide blood specimens for correlative studies.

Non-BRCAmut carriers with histologically proven PDAC: (Control cohort 4) Tested for and negative for the BRCA founder mutations.

• Ashkenazi Jewish Descent (at least one parent of Ashkenazi Jewish origin).
• Not related to known BRCAmut carrier.
• Histologic proof of primary pancreatic ductal adenocarcinoma. May have either potentially curable (resectable) primary PDAC, localized but unresectable primary PDAC, or metastatic (stage IV) PDAC.
• Both previously treated and previously untreated patients are eligible. Previous treatment may include surgical resection, regional radiation therapy, or systemic therapy. Patient may be receiving active therapy.
• Willing to provide blood specimens for correlative studies.
• Willing to provide permission to obtain banked tumor tissue for analysis (previous biopsies or surgical material). New tumor biopsies are not required for entrance into the Registry

Exclusion Criteria:

• Individuals will be excluded from the Registry if they:
• Are unable to sign informed consent for medical or other reasons. Do not speak English (MSK and UPenn) or do not speak English or Hebrew (BCGC Sites).
• Are under 21 years of age.
• Not willing to provide blood samples for correlative studies.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

5

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
BRCAmut carrier relatives of a BRCAmut PDAC patient; Who themselves have no known prior or active personal history of non-PDAC malignancy (e.g. breast , ovarian cancer or prostate cancer)	Behavioral: The risk assessment questionnaire; Other: Blood specimens
BRCAmut carrier relatives of a BRCA mutation PDAC; Patient who themselves have a known prior or active breast, ovarian cancer or prostate cancer	Behavioral: The risk assessment questionnaire; Other: Blood specimens
BRCAmut carriers; who are not related to a BRCAmut PDAC patient	Behavioral: The risk assessment questionnaire; Other: Blood specimens; Other: tumor tissue samples will be requested
AJ PDAC patients; who are proven non-BRCAmut carriers.	Behavioral: The risk assessment questionnaire; Other: Blood specimens; Other: tumor tissue samples will be requested
AJ first or second degree relatives of an AJ PDAC patient from a multiplex family; A family with at least two first or second degree relatives w ho have had PDAC.	Behavioral: The risk assessment questionnaire; Other: Blood specimens; Other: tumor tissue samples will be requested

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
prospective Registry	Establishment of a BRCA mutation carriers PDAC Registry with appropriate control groups, and collection and storage of biological material for future studies.	3 years

Collaborators and Investigators

• Sponsor: Memorial Sloan Kettering Cancer Center
• Collaborators: Johns Hopkins University; Dana-Farber Cancer Institute; Sheba Medical Center; Shaare Zedek Medical Center; Abramson Cancer Center at Penn Medicine
• Investigators: Principal Investigator: David Kelsen, MD, Memorial Sloan Kettering Cancer Center

Publications and helpful links

Helpful Links

• Memorial Sloan Kettering Cancer Center

Study record dates

Study Major Dates

• Study Start (Actual): November 4, 2013
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026

Study Registration Dates

• First Submitted: November 4, 2013
• First Submitted That Met QC Criteria: November 7, 2013
• First Posted (Estimated): November 14, 2013

Study Record Updates

• Last Update Posted (Estimated): December 30, 2025
• Last Update Submitted That Met QC Criteria: December 23, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Keywords: Registry; BRCA Mutation Carriers; PDAC carriers; BRCAmut carriers; 13-217
• Additional Relevant MeSH Terms: Neoplasms; Neoplasms by Histologic Type; Neoplasms, Glandular and Epithelial; Carcinoma; Adenocarcinoma
• Other Study ID Numbers: 13-217