This week, when Oscar-winning actress and humanitarian Angelina Jolie revealed that she underwent surgery to remove her breasts after learning that she carries one of the BRCA gene mutations that put her at high risk of developing breast and ovarian cancer, the news hit home here at the University of Pennsylvania. Just a year ago, Penn announced the creation of the Basser Research Center for BRCA, which was made possible by a $25 million gift from Penn alums Mindy and Jon Gray, in honor of Mindy Gray’s sister, Faith Basser, who died of ovarian cancer at age 44. As the only center in the United States devoted solely to research on prevention and treatment for cancers related to BRCA mutations, Jolie’s story turned a spotlight on the important work in progress there, and the experiences of the many other families with similar cancer risks.
This week, Susan Domchek, MD, executive director of the Basser Center in Penn’s Abramson Cancer Center, spoke with numerous national and Philadelphia-area media outlets, including the New York Times and Bloomberg News, all of whom were grappling with the larger questions prompted by Jolie’s disclosure. How many other women also face these same risks? Who should undergo genetic testing? Is having a mastectomy the only choice to cut risk?
These are issues that Domchek’s team in the Basser Center – which includes genetic counselors specifically trained to help people understand their genetic risks and create a personalized risk-reduction plan – confront every day, especially as the pace of genetic testing races forward and patients find themselves with more information about their potential risk than ever before.
The Boston Globe is among the news outlets that covered the news and looked ahead, toward research that stands to uncover more ways to prevent and treat cancers linked to BRCA mutations:Actress Angelina Jolie made a wrenching choice after a blood test detected a genetic defect that made breast cancer all but certain in her lifetime: She opted to have her breasts surgically removed. Her decision starkly highlights the less-than-ideal options available to women confronting a similar diagnosis.
And her case — there is no drug specifically targeting her genetic mutation that will prevent cancer — casts a light on personalized medicine, a still-adolescent field in which the ability to find disease can sometimes outstrip the ability to treat it.
Preventive surgery to remove the breasts and ovaries can dramatically reduce lifetime risk of getting these cancers to 5 percent or less. But those measures also mean an often long and painful recuperation from surgery as well as long-term consequences, such as reduced sexual pleasure and early menopause.
“Women need better choices,” said Dr. Susan Domchek, an oncologist who heads the Basser Research Center at the University of Pennsylvania School of Medicine. “We shouldn’t think that these surgical preventions have fixed the problem. They’re just a temporary solution.” The Penn center is developing medications and vaccines that target a mutation in the BRCA gene — such as the one carried by Jolie — but those treatments are still years away."
For that reason, one of Dr. Domchek’s areas of research looks into the health and well-being consequences of risk-reducing oophorectomy, which Jolie will also reportedly undergo – a major consideration as women make plans for whether and when the undergo the procedure. Findings from this study will help genetics experts advise patients on the best timing for oophorectomy and better define how and when to use interventions such as hormone replacement therapy to treat side effects associated with early menopause, such as hot flashes, mood swings, sleep disturbances, and bone health risks.
Though many women now learn they carry BRCA mutations years before they’re ready to have children, the clock for their cancer risk begins ticking even before they’ve finished their childbearing years. As the New York Times noted, “It is generally considered safe to wait long enough to have children before having the ovaries removed, but the operation should be done by age 40, said Dr. Susan M. Domchek, an expert on cancer genetics at the University of Pennsylvania and the executive director of its Basser Research Center, which specializes in BRCA mutations. There is no reliable way to screen for ovarian cancer, and most cases are detected at a relatively late stage, when the disease is harder to treat and more likely to be fatal.”
But preventive surgery isn’t the only option to reduce breast cancer, Domchek notes, and she emphasizes that clinicians can also work closely with women who wish to avoid or postpone that procedure to help keep close tabs on the possibility of developing cancer. “Some women with BRCA mutations choose close monitoring with mammograms and M.R.I. scans once a year, staggered so that they have one scan or the other every six months. Those tests offer a chance to find cancer early,” the Times wrote.
The investigators who’ve come together to form the Basser Center represent the most diverse array of experts, from surgeons and medical oncologists to cancer epidemiologists, immunology experts and exercise scientists. Among other projects already underway in the center as a result of the Gray’s gift:
- Timothy Rebbeck, PhD, is researching new ways to improve the assessment of cancer risk in mutation carriers, to help women make the best decisions about prevention strategies and timing.
- Andrea Facciabene, PhD, is developing a vaccine for BRCA-related cancers.
- Roger Greenberg, MD, PhD, Andrew Minn, MD, PhD, and Katherine Nathanson, MD, are leading efforts to better study the molecular or genetic changes present in BRCA-related tumors, to find new targets for treatment and better predict how patients may respond to existing drugs.
- George Coukos, MD, PhD, and Chungsheng Li, PhD, are investigating innovative molecular imaging techniques that visualize the tiny veins which grow to feed cancers.
- Angela Bradbury, MD, is examining the ways in which families communicate about hereditary cancer risk within families, to help shape interventions aimed at increasing preventative behaviors and minimizing the psychological toll of learning about having these genetic risks.
Read more about the Basser Research Center for BRCA or learn the answers to common questions about BRCA mutations, genetic testing, and risk reduction options in Dr. Domchek’s Q&A on CNN.com.
