Reasons to Participate in a Clinical Trial

There are a number of reasons why patients enroll in clinical trials and clinical research studies related to hereditary cancer.

  • Patients can gain access to new experimental drugs or treatments
  • Patients are interested in having a more active role in his or her healthcare
  • Patients are interested in advancing science and medical care and improving the understanding of hereditary cancer risks

By participating in clinical trials and research studies, participants help advance what is known about medical interventions and cancer risks.

Responses to Genetic Risk Modifier Testing Among Women with BRCA1/2 Mutations


  • BRCA1 or BRCA2 mutation carrier
  • Female, 25 years of age or older
  • Have not been diagnosed with breast cancer
  • Have not had a prophylactic (preventative) mastectomy
  • English-fluent
  • Penn Medicine patient

About the Study:
This study is a collaboration with Memorial Sloan Kettering Cancer Center and Dana Farber Cancer Institute. Because of the variability in cancer risk estimates among BRCA1/2 carriers and the risks associated with surgery, a clinical genetic testing panel of genetic risk modifiers may have substantial clinical utility; it would reduce some of the uncertainty surrounding cancer risk estimates and could thus aid in decision-making regarding prophylactic mastectomy and other less invasive risk management strategies. However, it is unclear how women will ultimately perceive or respond to such novel risk information. The goal of this study is to determine the impact of genetic risk modifier testing (PRS) on BRCA1/2 mutation carriers’ decision making with respect to their intention to undergo prophylactic mastectomy or to pursue surveillance.

This study is open to enrollment. For more information, please contact Jamie Brower at

Phase 1b Study of INO-5401 Alone or INO-5401 in Combination with INO-9012 Followed by Electroporation in Adult Cancer and Non-Cancer Patients with BRCA1 or BRCA2 Mutations


  • Females and males age 18+
  • Females must be post-menopausal
  • Group A currently enrolling: Adult cancer subjects
    • Carrier of a pathogenic or likely pathogenic mutation in BRCA1 or BRCA2 with a diagnosis of invasive breast cancer, invasive ovarian cancer, pancreatic cancer, or prostate cancer with completion of adjuvant therapy and no clinical evidence of disease

About the study:
The research study is being conducted to test an experimental vaccine to potentially prevent cancer for people with BRCA1 or BRCA2 mutations. This study will test if the vaccine is safe (without significant side effects) and test a new way of administering vaccines. It will also test whether the vaccine activates your immune system.

For more information, contact Alexandra Torres (

eReach: A Randomized Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Metastatic Breast, Ovarian, Prostate and Pancreatic Cancer Patients

Patients with advanced or metastatic breast, ovarian, pancreatic, or prostate cancer.

About the study:
This study aims to determine if web-based eHealth delivery of pre-test and/or post-test counseling in cancer patients and/or those at risk for cancer, can provide equal or improved cognitive and effective outcomes when compared to the standard of care delivery model. eReach is a randomized study. Participants will have a 25% chance of being placed in any of the following four groups. Patients throughout the country can participate in the eReach study. All study interventions, including genetic counseling, are provided by staff at the University of Pennsylvania.

For more information, visit the website or contact: Dominique Fetzer ( or Lauren Gutstein (

HOPE: Harnessing Olaparib, Palbociclib and Endocrine therapy for patients with BRCA-associated metastatic breast cancer

All patients must have metastatic breast cancer that is hormone receptor-positive, as well as an inherited (blood) or tumor mutation in the BRCA1 or BRCA2 genes.  Patients who have previously received parts of the study treatment may still be eligible.

About the study: 
This study is a clinical trial that is designed to test the safety and effectiveness of a three-drug, non-chemotherapy treatment for patients with BRCA1/2 mutations in their bloodstream or their tumor and metastatic breast cancer that is hormone (estrogen and/or progesterone) receptor positive.  Olaparib is an oral targeted therapy called a PARP inhibitor.  Olaparib is safe, highly effective, and FDA-approved to treat metastatic breast cancer in patients with BRCA mutations.  The combination of palbociclib and fulvestrant is safe, highly effective, and FDA approved to treat metastatic breast cancer that is hormone receptor positive.  This study is designed to test all three drugs together.  The study team is happy to help evaluate whether or not you would be a candidate for this trial.

For more information please visit HOPE or contact the Principal Investigator Payal Shah MD directly at

Combination ATR and PARP Inhibitor (CAPRI) trial with ceralasertib (AZD6738) and olaparib in recurrent ovarian cancer

All patients must have recurrent epithelial ovarian, primary peritoneal, or fallopian tube cancer.  Most but not all cohorts include only high grade serous ovarian, but one cohort includes other subtypes.  The cohorts have different requirements regarding prior platinum sensitivity and are exploring different dosing schedules of the two investigational drugs.  Patients can have any or no BRCA or other mutations. 

About the study: 
The main purpose of this study is to learn how effective a new anti-cancer treatment combination is in controlling your recurrent ovarian cancer.  The treatments are olaparib (a PARP inhibitor that is already an FDA approved medication for ovarian cancer) and ceralasertib (aka AZD6738, an ATR inhibitor, a targeted therapy that is being developed). Both drugs target the process of repairing damage to your genes, which is precisely the problem in patients who have mutations in BRCA and other DNA repair genes. There is no placebo and this is a phase II study, which means all patients will receive both drugs at the same doses that have already been shown to be generally safe. We also hope to understand why this drug works in some patients and not in others, so you will also be asked to have tumor biopsies. If the treatment works and seems safe for you, you will have the opportunity to stay on it until you decide otherwise.

For more information please visit and type “NCT03462342” into the “Other Terms” field or contact Cheyenne Pagan at

Olaparib Expanded: A Phase II Trial of Olaparib in Patients with Metastatic Breast Cancer and Mutations in DNA Repair Genes

Patients with metastatic breast cancer and either an inherited (blood) mutation in a gene called PALB2 or a tumor (not inherited, not in the blood) mutation in BRCA1 or BRCA2

About the Study: 
This study is a phase II clinical trial looking at the effectiveness of the drug olaparib in patients who have metastatic breast cancer and specific gene alterations (“mutations”) either in their blood or in their tumors.  The drug olaparib is a type of drug called a PARP inhibitor that is already FDA approved to treat patients with metastatic breast cancer associated with inherited (in blood) mutations in the BRCA1 and BRCA2 genes.  Olaparib is thought to be effective in these patients because both olaparib and BRCA mutations disrupt the normal process of DNA repair, or the repair of a person’s genetic material.  When a tumor cannot repair its own genetic makeup, errors accumulate, and cancer cells can die as a result.  An earlier stage of this clinical trial showed olaparib also to help control cancer in patients with inherited PALB2 mutations or tumor-only BRCA mutations, and so the current stage of the trial is enrolling patients with those findings.  This trial is open at the Basser Center / Abramson Cancer Center as well as other sites nationwide.  The study team is happy to help evaluate whether or not you would be a candidate for this trial.

For more information please visit (NCT03344965) or contact Catherine Rudloff at 215-615-5329 or

Genetics and Heart Health After Cancer Therapy (GENE-Heart)


  • BRCA1 or BRCA2 mutation
  • History of breast cancer (diagnosed in 2005 or after) without metastatic disease or recurrence in the past 12 months

About the Study:
The purpose of GENE-Heart is to learn more about the impact of BRCA1/2 mutations on heart health in women with breast cancer.  Mutations in the BRCA1 and BRCA2 gene result in an increased risk of breast, ovarian, and other cancers. However, if and how these mutations can affect the heart is not well understood. This is an observational study that will involve 6 visits at the University of Pennsylvania involving close monitoring of your heart function: an initial visit, and then visits once a year for 5 years.  Each visit will include a blood draw, questionnaire, echocardiogram (ultrasound of the heart), and cardio-pulmonary exercise test (treadmill test to measure heart and lung fitness).  We hope the results of this study will help advance our understanding of how to manage and care for the heart in BRCA1/2 carriers with breast cancer.

For more information, contact Karyn Sheline ( or call 215-615-3244.

Research Registry: Identification and Analysis of Families With Genetic Susceptibility To Cancer

You are eligible for the Registry if any of the following apply to you:

  • You or a family member have tested POSITIVE for any of the following types of mutations and can provide a copy of the test report:
    1. A mutation in BRCA1 or BRCA2
    2. A variant of uncertain significance (VUS) in BRCA1 or BRCA2
    3. A gene mutation or variant of uncertain significance (VUS) linked to a heritable gastrointestinal syndrome (such as Lynch Syndrome)
    4. A mutation or variant of uncertain significance (VUS) in another cancer risk gene
    5. You have had NEGATIVE genetic testing for any of the above cancer risk genes for a known mutation in the family and can provide a copy of the test report.
  • Personal diagnosis of breast cancer at age 40 or below
  • Personal diagnosis of bilateral breast cancer under age 60
  • Personal diagnosis of "triple negative" breast cancer under age 60, DCIS excluded (triple negative breast cancer is estrogen receptor negative, progesterone receptor negative, Her2/neu negative)
  • Personal diagnosis of breast cancer at any age with three or more breast cancers under age 70 in first, second, or third degree relatives on the same side of the family
  • Personal diagnosis of male breast cancer at any age
  • Personal diagnosis of ovarian cancer under age 50
  • Personal diagnosis of ovarian cancer at any age and one relative with ovarian cancer diagnosed under age 50
  • Personal diagnosis of breast cancer under age 60 and a first, second, or third degree relative with ovarian cancer diagnosed at any age
  • Personal diagnosis of multiple primary cancer (breast and ovarian cancers) at any age
  • Personal diagnosis of breast cancer under age 70 and a first, second, or third degree relative with multiple primary cancer (breast and ovarian cancers) at any age
  • Personal diagnosis of breast cancer at any age and a second primary cancer, both diagnosed under age 70.  The second primary cancer cannot be a recurrence or metastasis of the breast cancer and cannot be skin cancer, with the exception of melanoma.
  • Personal diagnosis of pancreatic cancer under age 50
  • Personal diagnosis of pancreatic cancer at any age and at least one first or second degree relative with breast or pancreatic cancer diagnosed under age 50
  • Personal diagnosis of metastatic prostate cancer or Gleason score of 8 or higher
  • Personal diagnosis of prostate cancer (Gleason score of 7 or higher) and at least one first or second degree relative with breast, pancreatic, or ovarian cancer

About the Study:
The research laboratory at the Abramson Cancer Center is studying genetic sources of cancer risk and currently has one of the largest collections (also called a registry) of families with known or suspected risk in the world. Participation involves providing medical and family history, key medical records, and a DNA saliva sample. There are no costs associated with participation and all arrangements can be made over the telephone or through the mail. Travel to the University of Pennsylvania is not necessary for participation.

If you have any questions, please contact us by emailing, call 215.662.3182, or fax 215.614.1609.

Click here to participate in this study and enroll in the Research Registry.

A number of research projects are performed in collaboration with this registry. Research participants receive a numerical identification number that protects their privacy. Collaborating centers do not have access to personal identifiers such as names and dates of birth because only the numerical identifiers are shared. Specific research projects are listed below:

CIMBA (The Consortium of Investigators of Modifiers of BRCA1/2)
CIMBA is an international group of investigators representing 28 countries focused on studying many issues related to inherited BRCA1/2. One main area is the identification of modifier genes. That is, genes other than BRCA1 and BRCA2 that may impact cancer risk in mutation carriers.

A Phase II, Open Label Study of Rucaparib in Patients with Advanced Pancreatic Cancer and a Known Deleterious Germline or Somatic BRCA1, BRCA2 or PALB2 Mutation


  • Patients with a known BRCA1, BRCA2, or PALB2 mutation (either in blood or tumor) with inoperable (locally advanced or metastatic) pancreatic adenocarcinoma who have achieved tumor stability on platinum-based treatment (FOLFIRINOX, FOLFOX or cisplatin/gemcitabine) for at least 4 months. 

About the Study:
The main purpose of this study is to look at the effectiveness, safety, and antitumor activity (preventing growth of the tumor) of the drug rucaparib on you and on your pancreatic cancer. We also hope to learn more about how this drug works on your specific disease and what might predict resistance to treatment. Rucaparib belongs to a class of anti-cancer agents known as PARP inhibitors. PARP is a protein inside cells in the body that helps repair damage to DNA, which is the genetic material that carries the instructions for your body’s growth and development. Cancer can result from changes in a person’s genetic material (sometimes called DNA mutations) and some of these changes can cause cancer cells to grow out of control. Research has shown that PARP inhibitors stop the PARP protein from working, and that can sometimes cause cancer cells to stop growing. This is particularly true for patients with specific mutations in the DNA of their tumors, such as BRCA or PALB2 mutations.

For more information please visit or call Colleen Redlinger at 215.220.9693.

Cancer Risk Evaluation Program (CREP) Biobank


  • Older than 18 years of age and documented mutation in BRCA1, BRCA2, TP53, PTEN, MLH1,MSH2, MSH6, or PMS2.

About the Study:
The goal of this repository of specimens and data is to identify blood biomarkers associated with the early development of cancer or cancer recurrence. Investigators hope that this will lead to the creation of new screening tests in individuals at high risk for breast and ovarian cancer. Participation in this study involves an annual blood draw throughout a patient's lifetime. Currently, the blood sample can only be drawn at the University of Pennsylvania in Philadelphia. If you are already being seen at the Rena Rowan Breast Center, this appointment can be scheduled at the same time as your annual check-up.

For more information, call 215.360.0420.

Prospective Registry of Multiplex Testing (PROMPT)


  • Individuals who have had multigene (also known as multiplex) panel genetic testing and tested positive for a mutation or variant of uncertain significance in at least one cancer susceptibility gene other than BRCA1/2.

About the Study:
PROMPT is an online registry that is a collaborative effort between academic researchers at the Basser Research Center for BRCA, Dana Farber Cancer Center, the Mayo Clinic, and Memorial Sloan Kettering Cancer Center. The purpose of PROMPT is to provide patients, physicians, and researchers with an opportunity to share information about multiplex genetic testing so that we can all better understand the implications of these genetic mutations.

For more information, email Jamie Brower at You can also visit the information page for PROMPT at