Basser Research Center for BRCA

Open Studies

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 & improving the understanding of hereditary cancer risks

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

The Basser Research Center for BRCA is conducting studies on:


Genetic and Cancer Risk Studies


Identification and Analysis of Families With Genetic Susceptibility To Cancer (Registry)

Eligibility:

  • Mutation positive for BRCA1 or BRCA2
  • Negative for BRCA1 or BRCA2 mutation with significant family history
  • BRCA1 or BRCA2 variant of uncertain significance.
  • Personal diagnosis of breast cancer under age 35
  • Personal diagnosis of bilateral breast cancer under age 50
  • Personal diagnosis of ovarian cancer at age 45 or younger
  • Personal diagnosis of "Triple negative" breast cancer (estrogen receptor negative, progesterone receptor negative, Her2/neu negative) diagnosed under age 50
  • Male breast cancer
  • Personal history of breast cancer and melanoma
  • Have tested positive for a gene mutation linked with a heritable gastrointestinal cancer syndrome:

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.
 
A number of research projects are performed in collaboartion 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, call Pamela Kline at (215) 662-2748.

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Characterization of High Risk Breast Cancer Families and Individuals Without BRCA1/2 Mutations (Whole Exome Sequencing Study)

Eligibility:

  • No detectable BRCA1 or BRCA2 mutation through clinical genetic testing
  • At least 18 years old
  • Previous diagnosis of breast cancer, whether male or female
  • Family history of greater than 2 breast cancer cases in family members
  • Pre-test chance of testing positive for a BRCA1/2 mutation is greater than 30% (to be determined by genetics specialist)
  • Woman with more than 2 primary cancers, 1 of those cases being breast cancer
  • Woman with diagnosis of both breast and ovarian cancer.

About the Study:

The purpose of this study is to find and characterize genes that may be linked to cancer that runs in families who have tested negative for detectable BRCA1 and BRCA2 mutations.
 

Participation in this study includes signed informed consent facilitated by a member of the research team, providing questionnaire information and a small blood sample. Our process regarding the possible disclosure of research results will be carefully discussed with each individual prior to enrollment. There are no costs associated with participation, and all arrangements can be made over the telephone and through the mail. Travel to the University of Pennsylvania is not necessary for participation.

For more information, call Jill Stopfer, MS at (215) 349-8141 or email Jacquelyn Powers, MS at jacquelyn.powers@uphs.upenn.edu.

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Lessons in Epidemiology and Genetics of Adult Cancer from Youth (The LEGACY Girls Study)**

Eligibility:

  • Girls between the ages of 6-13
  • Parent or guardian and daughter must be able to travel to Children's Hospital of Philadelphia (CHOP) twice a year, over a four year period (total of 8 visits)

Reimbursement for travel expenses and small gift for daughters provided at each study visit.

About the Study:

The purpose of the Legacy Girls Study is to explore how genes and early childhood environment may play a role in developing breast cancer later in life. This study will enroll 900 girls aged 6 to 13 at five sites in North America. The Philadelphia site, including the University of Pennsylvania, Fox Chase Cancer Center and CHOP, will enroll 150 girls. Half the girls will be from families with a history of breast cancer. We will collect survey data, blood and urine samples and measures of growth over a four year period to study growth and genetic, lifestyle and environmental factors.

**This study is currently closed to recruitment.

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Multiplex Testing for Evaluation of Cancer Risk (METEOR Study)

Eligibility:

  • Male or female with strong family history of breast and/or cancer who have tested negative for the BRCA genes

About the Study:

The goal of METEOR is the evaluate the benefits and risks of multiplex (multi-gene) testing for cancer susceptibility in individuals who have already tested negative for the BRCA1/2 genetic mutations. Study participants will complete a genetic counseling visit, during which they can decide whether to pursue additional genetic testing. Participants will also complete a results disclosure visit, during which a physician and genetic counselor will discuss the results of the genetic testing. Surveys will be completed at 5 different time points over a 1-year period in order to assess changes in knowledge, satisfaction, attitude, and anxiety/depression. The study cannot reimburse for the cost of travel or parking, but will pay for the cost of multiplex testing if this is selected.

For more information, call Jamie Brower at (215) 662-2745 or email jabrower@upenn.edu.

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Prospective Registry of Multiplex Testing (PROMPT)

Eligibility:

  • 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, contact Laura DiGiovanni at (215) 662-2770 or email prompt@uphs.upenn.edu. You can also visit the information page for PROMPT at promptstudy.info.

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BRCA1 and BRCA2 Cancer Treatment Trials


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

Eligibility:

  • BRCA1 or BRCA2 mutation
  • 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 clinicaltrials.gov or call Robin Holmes, RN at the University of Pennsylvania at (215) 615-0360.

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Cancer Risk Reduction & Prevention Studies


PROSE (Prevention and Observation of Surgical Endpoints) Study

Eligibility:

  • BRCA mutation carriers enrolled in the Identification and Analysis of Families With Genetic Susceptibility To Cancer study below will be included in PROSE.

About the Study:

Investigators at the University of Pennsylvania are leading an international collaborative effort studying the effects of risk reducing surgery such as removal of the ovaries and prophylactic mastectomy for women who carry genetic risk due to BRCA1 and BRCA2. In addition, the group is studying the impact of hormone replacement therapy in women who undergo early menopause due to surgical removal of the ovaries. Specific aims currently include an examination of the effects of hormone replacement therapy for women who undergo early menopause due to surgical removal of the ovaries. The group is also studying how the timing of surgery with respect to age and reproductive history may ultimately affect cancer risks.

For more information, call Jill Stopfer, MS at (215) 349-8143 or email Jacquelyn Powers, MS at jacquelyn.powers@uphs.upenn.edu.

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Prospective Analysis Before and After a Risk-Reducing Bilateral Salpingo-Oophorectomy

Eligibility:

 High-risk Group:
  • Female carrier of a known pathogenic BRCA1 or BRCA2 mutation
  • Planning to have a bilateral salpingo-oophorectomy within the next 6 months
  • Age 30-55
  • Premenopausal (not yet experiencing menopause-related symptoms)
  • Intact uterus & ovaries

Control Group: 

  • Female carriers of known pathogenic BRCA1 or BRCA2 mutations, females who have tested negative for the BRCA1 and BRCA2 mutations, or females who have not been tested may all be eligible
  • Not planning on undergoing a bilateral salpingo-oophorectomy
  • Age 30-55
  • Premenopausal (not yet experiencing menopause-related symptoms)
  • Intact uterus & ovaries

About the Study:

This study consists of 4 in-person visits spread across 2 years, as well as an online surveys. The study will measure the quality of life of women before and after risk-reducing bilateral salpingo-oophorectomy. The study includes in-person visits during traditional business hours at our clinic in Philadelphia, so participants must be located within driving distance in order to participate. The study cannot reimburse for travel expenses, though the study will pay for parking at in-person measurement visits. 

For more information, call Laura DiGiovanni at (215) 662-2770 or email rrso.study@uphs.upenn.edu.

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Quality of Life Following Risk-Reducing Bilateral Salpingo-Oophorectomy**

Eligibility:

  • Female carrier of a known pathogenic BRCA1 or BRCA2 mutation
  • Age 30 or over
  • Have already undergone a bilateral salpingo-oophorectomy

About the Study:

This study consists of online surveys which will measure the quality of life of women who have already undergone a risk-reducing 
bilateral salpingo-oophorectomy.
 

The purpose of the study is to measure the prevalence of symptoms in areas such as depression, cognition, calcium intake, sleep quality, and sexual function. The entire study takes place online, so English speaking participants outside of the US with computer and internet access may participate.

**This study is currently closed to recruitment.

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Cancer Screening Studies


Cancer Risk Evaluation Program (CREP) Biobank

Eligibility:

  • Older than 18 years of age
  • Documented mutation in BRCA1BRCA2TP53PTENMLH1MSH2MSH6, 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. 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 Chan Voong at chan.voong@uphs.upenn.edu with the subject line "Biobank."

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Identification of Men with a Genetic Predisposition to Prostate Cancer: Targeted Screening in BRCA1/2 Mutations Carriers and Controls (IMPACT)**

Eligibility:

  • Male carrier of a known pathogenic BRCA1 or BRCA2 mutation
  • Male who has tested negative for a known BRCA1 or BRCA2 mutation present within their family
  • Untested male who has family member with known BRCA1 or BRCA2 mutation
  • Age 40-69 years
  • No previous history of prostate cancer
  • No previous prostate biopsy for raised PSA
  • No previous history of cancer with an estimated lifetime expect

About the Study:

Prostate cancer is a serious health issue affecting a significant portion of the U.S. population. We know that men with BRCA mutations who develop prostate cancer tend to develop these cancers at earlier than average ages, and may develop more aggressive forms of disease. Investigators at the University of Pennsylvania are trying to determine the best way to screen men who have inherited prostate cancer risk due to BRCA1 or BRCA2. Men between the ages of 40-69 in families with a known BRCA1 or BRCA2 mutation are invited to join. The study offers free annual PSA screening starting at age 40 and free clinical genetic testing for men who haven't yet been tested for the known familial BRCA1 or BRCA2 mutation. The incidence of raised PSA, abnormal biopsy and prostate cancer diagnoses will be measured. 

**This study is currently closed to recruitment.

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Knowledge Assessment and Communication Studies


Communication of Genetic Test Results by Telephone (COGENT)

Eligibility:

  • At least 18 years old
  • Will undergo BRCA1/2 OR Lynch Syndrome genetic testing and pre-test genetic counseling at a participating center

About the Study:

This research will evaluate the use of telephone as an alternative to a return clinic visit to communicate genetic test results to patients. Individuals who agree to participate will be asked to provide data about their thoughts, perceptions, experiences and behaviors regarding the method by which their results are shared with them.

For more information, please call Dominique Fetzer, BA, (215) 662-2753

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Communication of Ovarian Cancer Risk and Decision Making Among BRCA1/2 and Lynch Syndrome Carriers

Eligibility:

  • Female carriers of known pathogenic BRCA1 or BRCA2 mutations, or pathogenic mutations associated with Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, or EPCAM)
  • No prior diagnosis of ovarian cancer
  • Intact ovaries
  • Not yet scheduled for a bilateral salpingo-oophorectomy

About the Study:

The purpose of this study is to evaluate the impact of decision support materials on women who are considering different options for reducing their risk of ovarian cancer. Participants will complete a brief survey and will then be randomly assigned to either receive a medical decision making book, or to complete a web module. After a follow-up survey all participants will have access to both resources. The entire study takes place online and over the phone, so English speaking participants outside of the US with computer and internet access may participate.

For more information, Call Laura DiGiovanni at (215) 662-2770 or email rrso.study@uphs.upenn.edu.

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Study of Female Teens: Understanding Risk to Promote Breast Health (The SOFT study)

Eligibility:

  • Girls between the ages of 11-19
  • Mothers of 11-19 year old girls
  • Families with or without a history of breast cancer

About the Study:

The SOFT Study is a research study to learn what 11-19 year old girls know about breast cancer risk. The study involves two online or telephone surveys, 12 months apart, for mothers and their daughters. We will survey girls with a family history of breast cancer as well as girls from average risk families. We will also interview a subset of mothers with a BRCA mutation to learn about mother to daughter communications of genetic test results.

This study is currently recruiting mothers with a BRCA mutation.

For more information, contact Dare Henry-Moss at SoftStudy@uphs.upenn.edu.

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Studies on Reproductive Implications


Assessment of Fertility and Factors Influencing Reproduction and Menopause in BRCA Mutation carriers

Eligibility:

  • Women age 18-55 who have been tested for a BRCA mutation, OR
  • Women ages 18-45 who have not been tested for a BRCA mutation

About the Study:

The Basser Research Center for BRCA and fertility specialists at the University of Pennsylvania are recruiting participants for a study to better understand fertility and reproduction in women with a BRCA mutation. The goal is to help women with increased risk of cancer make decisions about when to start their families.

The study has two parts:

  1. A 30-minute online survey
  2. Hormone measurement. (Previvors age 18-45 receive a collection kit by mail, collect a few drops of blood on a special card by finger-prick, and return the sample by mail.)
You can participate in this study by accessing the survey here. 

For more information, Contact a study coordinator at (215) 614-1414 or email PennOncoFertility@uphs.upenn.edu.

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Assessment of Ovarian Reserve and Attitudes Toward Parenthood in BRCA mutation carriers**

Eligibility:

  • Female carrier of a known pathogenic BRCA1 or BRCA2 mutation
  • Female who has tested negative for a known BRCA1 or BRCA2 mutation present within their family
  • Between the age of 18-40
  • Healthy and postmenarcheal (have begun menstruation)
  • No prior exposure to chemotherapy
  • With uterus and at least one ovary

About the Study:

This study is in collaboration with the fertility specialists at Penn and aims to examine ways to test ovarian reserve, that is, the number and quality of eggs in one's ovaries. Information gained from this study may eventually help women with increased risk for cancer make decisions about when and how to start families. Furthermore, this study evaluates how knowledge of a BRCA mutation may impact a woman's decisions about parenthood. 

** This study is currently closed to recruitment.

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