Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: A Registry for BRCA Mutation Carriers With Pancreatic Ductal Adenocarcinoma

Summary: 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.


Eligibility: 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
  -  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.
  BRCA mutation carrier, relative of a BRCA PDAC patients, without PDAC or other BRCAmut related malignancy: (Control Cohort 1)
  -  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.
  BRCAmut Carrier relative of a BRCAmut PDAC patient who themselves have prior or active BRCAmut related malignancy (Control Cohort 2):
  -  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 who is not related to a BRCAmut PDAC patient: (Control cohort 3) 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.
  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.

Relevance to patient case: not relevant