Mariann and Robert MacDonald Women's Cancer Risk Evaluation Center
Program Leader: Susan Domchek, MD
Breast and ovarian cancer genetics research at Penn Medicine has been a transdisciplinary endeavor for more than 15 years, bringing together investigators from medical oncology, molecular genetics, surgical and radiation oncology, primary care, epidemiology and biostatistics, psychology and health economics.
The overarching goal of breast and ovarian genetics research at Penn Medicine is to enhance understanding of inherited susceptibility to breast, ovarian and other cancers so that better cancer risk management strategies can be developed, including risk reduction, tailored therapies and ultimately prevention of cancer.
The breast and ovarian cancer genetics registry at Penn Medicine now includes about 3,600 families with known or suspected genetic risk for cancer, many of whom are followed and their status updated on an annual basis. Each family may include information on many individual family members, and provides an incredibly rich research resource from which to draw participants for numerous studies.
Putting Discoveries into Practice
The breast and ovarian cancer genetics research clinic and the Mariann and Robert MacDonald Women's Cancer Risk Evaluation Center provide genetic counseling, testing and medical management, and a place where cutting edge discoveries can immediately be put into practice in the clinical setting.
Some of the high impact breast and ovarian cancer genetics research studies at Penn have been focused on measuring the magnitude of cancer risk reduction among high risk women who chose prophylactic surgical removal of their breasts and/ or ovaries, as well as long term outcomes such as risk for bone loss and heart disease, and the relative safety of hormone replacement therapy for women who elect to have oophorectomy prior to natural menopause.
The breast and ovarian cancer genetics research team is also working to identify novel cancer susceptibility genes using the cutting edge methodology of whole exome sequencing. This project has spearheaded a novel consenting and genetic counseling protocol for individuals participating in whole exome research in general.
Breast and ovarian cancer genetics research participants at Penn have also had access to some of the nation’s first treatment trials using PARP inhibitors, a class of medicine that addresses the molecular underpinnings of a variety of tumor types in men and women with genetic risk due to the BRCA1 or BRCA2 genes.
The breast and ovarian cancer genetics research group is interested in developing molecular methods to enhance risk prediction through a study examining the incremental impact of a breast cancer single nucleotide polymorphism (SNP) panel on risk classification and screening. Since current models of risk identification among a screening population of unaffected women is still limited, especially among minority women, these findings could yield added precision and tailoring of follow-up recommendation that may be of great benefit to such women.
The Mariann and Robert MacDonald Women's Cancer Risk Evaluation Center has specialized clinics that provide clinical information, genetic counseling and, when appropriate, molecular diagnostic testing for patients and their relatives for many different mutations.
All of the specialized clinics are staffed by dedicated genetic counselors. These specialized clinics provide a source of information for both patients and referring physicians, while participating in the research mission of the program.