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.

BRCA Founder Outreach Study (BFOR)


The study will offer BRCA genetic testing to women and men of Ashkenazi (Eastern European) Jewish ancestry, age 25 or older, located in the New York, Boston, Philadelphia, and Los Angeles metropolitan areas. This model combines the convenience of direct-to-consumer genetic tests along with the advantages of receiving testing with the guidance of a medical care provider. BFOR offers BRCA genetic testing at no cost to participants.

Click here to participate in the study.

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

 Eligibility:  Patients with metastatic breast cancer and a mutation (either in blood or in tumor) in ATMCHEK2PALB2RAD51C/DBRIP1NBN or another gene involved in DNA repair.  Patients can also have a mutation in BRCA1 or BRCA2 if that mutation is in the tumor only.

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.  This clinical trial will enroll patients who have mutations in other genes that, like BRCA1 and BRCA2, normally help the process of DNA repair, to see if the drug works in these patients based on the same principle.  This trial also enrolls patients whose tumors have mutations in BRCA1 and BRCA2 as long as these mutations are not inherited.  This trial is open at the Basser Center / Abramson Cancer Center as well as other sites nationwide.

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.

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

All patients must have high grade serous ovarian, primary peritoneal and/or fallopian tube cancer that is recurrent.  There are 3 different groups of patients (Cohorts A, B, and C) that are included in this study. 

  1. Cohort A is for patients with platinum sensitive disease who have had 3 or fewer prior therapies and no prior PARP inhibitor. 
  2. Cohort B is for patients with platinum resistant disease who have had 3 or fewer therapies since they developed platinum resistance and no prior PARP inhibitor
  3. Cohort C is for patients who have a mutation in BRCA or a similar genetic change as well as platinum sensitive disease that has been treated with a PARP inhibitor as the most recent therapy.  For patients on Cohort C, their prior PARP inhibitor must have initially controlled their disease but then stopped working. 

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 AZD6738 (an ATR inhibitor, a drug 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 Katie Elkins at 215-615-6740 or

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 any of the following types of mutations:
    1. BRCA1 or BRCA2, or a BRCA1/2 variant of uncertain significance
    2. A gene mutation or variant linked to a heritable gastrointestinal syndrome (such as Lynch Syndrome)
  • An inherited mutation or variant in another cancer risk gene
  • 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
  • Male breast cancer diagnosed 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.

BRIDGE (BRCA1/2 International Diversity by Geography and Ethnicity)
Most women (95%) who participate in BRCA1/2-related research are of Caucasian and Jewish ancestry. Through the BRIDGE study investigators hope to increase participation of underrepresented groups of women in BRCA1/2 research. Through studying this underrepresented population, researchers hope to provide clinically relevant information about BRCA1/2 mutations by ethnicity and geography and improve risk assessment and an understanding of modifiers of risk in these populations.

For more information, contact Melissa Batson or call 215.360.0420.

A Randomized, Phase 2 Study of the Efficacy and Tolerability of Veliparib in Combination with Temozolomide or in Combination with Carboplatin and Paclitaxel Versus Placebo Plus Carboplatin Paclitaxel in Subjects with BRCA1 or BRCA2 Mutation and Metastatic Breast Cancer


  • BRCA1 or BRCA2 mutation or advanced stage breast cancer

About the Study:
Veliparib is a medication classified as a "PARP inhibitor". PARP inhibitors are being studied to treat cancers in those who carry genetic risk due to either BRCA1 or BRCA2. These medicines are designed to address the biology of tumors arising due to mutations in either gene, and represent a new type of tailored therapy. This study is examining veliparib in combination with different type of chemotherapy compared to chemotherapy alone.

For more information, please visit or call Robin Holmes, RN at the University of Pennsylvania, at 215.615.0360.

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, contact Melissa Batson or 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