Thisweek, when Oscar-winning actress and humanitarian AngelinaJolie revealed that she underwent surgery to remove her breasts afterlearning that she carries one of the BRCA gene mutations that put her at highrisk of developing breast and ovarian cancer, the news hit home here at theUniversity of Pennsylvania. Just a year ago, Penn announced the creation of theBasser Research Center for BRCA, which was made possible by a $25million gift from Penn alums Mindy and Jon Gray, in honor of Mindy Gray’ssister, Faith Basser, who died of ovarian cancer at age 44. As the only centerin the United States devoted solely to research on prevention and treatment forcancers related to BRCA mutations, Jolie’s story turned a spotlight on theimportant work in progress there, and the experiences of the many otherfamilies with similar cancer risks.
Thisweek, Susan Domchek, MD, executive director of the Basser Center in Penn’sAbramson Cancer Center, spoke with numerous national and Philadelphia-areamedia outlets, including the NewYork Times and BloombergNews, all of whom were grappling with the larger questions prompted byJolie’s disclosure. How many other women also face these same risks? Who shouldundergo genetic testing? Is having a mastectomy the only choice to cut risk?
Theseare issues that Domchek’s team in the Basser Center – which includes geneticcounselors specifically trained to help people understand their genetic risksand create a personalized risk-reduction plan – confront every day, especially asthe pace of genetic testing races forward and patients find themselves withmore information about their potential risk than ever before.
is among the newsoutlets that coveredthe news and looked ahead
, toward research that stands to uncover more waysto prevent and treat cancers linked to BRCA mutations:
Actress Angelina Jolie made a wrenching choice after ablood test detected a genetic defect that made breast cancer all but certain inher lifetime: She opted to have her breasts surgically removed. Her decisionstarkly highlights the less-than-ideal options available to women confronting asimilar diagnosis.
And her case — there is no drug specifically targetingher genetic mutation that will prevent cancer — casts a light on personalizedmedicine, a still-adolescent field in which the ability to find disease cansometimes outstrip the ability to treat it.
Preventive surgery to remove the breasts and ovaries candramatically reduce lifetime risk of getting these cancers to 5 percent orless. But those measures also mean an often long and painful recuperation fromsurgery as well as long-term consequences, such as reduced sexual pleasure andearly menopause.
“Women need better choices,” said Dr. Susan Domchek, anoncologist who heads the Basser Research Center at the University ofPennsylvania School of Medicine. “We shouldn’t think that these surgicalpreventions have fixed the problem. They’re just a temporary solution.” ThePenn center is developing medications and vaccines that target a mutation inthe BRCA gene — such as the one carried by Jolie — but those treatments arestill years away."
Forthat reason, one of Dr. Domchek’s areas of research looks into the health andwell-being consequences of risk-reducing oophorectomy, whichJolie will also reportedly undergo – a major consideration as women makeplans for whether and when the undergo the procedure. Findings from this studywill help genetics experts advise patients on the best timing for oophorectomyand better define how and when to use interventions such as hormonereplacement 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 theycarry BRCA mutations years before they’re ready to have children, the clock fortheir cancer risk begins ticking even before they’ve finished theirchildbearing years. As the NewYork Times noted, “It is generally considered safe to wait longenough to have children before having the ovaries removed, but the operationshould be done by age 40, said Dr. Susan M. Domchek, an expert on cancergenetics at the University of Pennsylvania and the executive director of its BasserResearch Center, which specializes in BRCA mutations. There is no reliableway to screen for ovarian cancer, and most cases are detected at a relativelylate stage, when the disease is harder to treat and more likely to be fatal.”
Butpreventive 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 toavoid or postpone that procedure to help keep close tabs on the possibility ofdeveloping cancer. “Some women with BRCA mutations choose close monitoring withmammograms and M.R.I. scans once a year, staggered so that they have one scanor the other every six months. Those tests offer a chance to find cancerearly,” the Times wrote.
Theinvestigators who’ve come together to form the Basser Center represent the mostdiverse array of experts, from surgeons and medical oncologists to cancerepidemiologists, immunology experts and exercise scientists. Among other projectsalready underway in the center as a result of the Gray’s gift:
- TimothyRebbeck, PhD, is researching new ways to improve the assessment of cancer riskin mutation carriers, to help women make the best decisions about preventionstrategies and timing.
- AndreaFacciabene, PhD, is developing a vaccine for BRCA-related cancers.
- RogerGreenberg, MD, PhD, Andrew Minn, MD, PhD, and Katherine Nathanson, MD, areleading efforts to better study the molecular or genetic changes present inBRCA-related tumors, to find new targets for treatment and better predict howpatients may respond to existing drugs.
- GeorgeCoukos, MD, PhD, and Chungsheng Li, PhD, are investigating innovative molecularimaging techniques that visualize the tiny veins which grow to feed cancers.
- AngelaBradbury, MD, is examining the ways in which families communicate about hereditarycancer risk within families, to help shape interventions aimed at increasingpreventative behaviors and minimizing the psychological toll of learning abouthaving these genetic risks.
Readmore about the Basser ResearchCenter for BRCA or learn the answers to common questions about BRCAmutations, genetic testing, and risk reduction options in Dr.Domchek’s Q&A on CNN.com.