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Breast Matters - Breast Cancer Expert Kala Visvanathan Q&A

New and Improved Mammogram Technology
Issue No. 4

Breast Cancer Expert Kala Visvanathan Q&A

Date: 06/02/2014

Weighs In on the "Angelina Jolie" Effect


Kala Visvanathan

When celebrities act, the public takes notice. Such was the case when 38-year-old celebrity Angelina Jolie chose to undergo an elective prophylactic double mastectomy after testing positive for the BRCA1 gene mutation. Having the mutation elevates one’s risk for breast cancer by anywhere from 40 to 87 percent. Not surprisingly, then, when Jolie went public with her highly personal decision, many women responded with a call to action of their own. Inquiries to genetic testing centers around the nation shot up—including those to the Johns Hopkins Breast and Ovarian Surveillance Service (BOSS), part of the Clinical Cancer Genetics Program at the Kimmel Cancer Center.

For insight into the questions that Jolie’s decision has provoked among women concerned about genetic risks for breast cancer, we turned to Kala Visvanathan, M.D., a cancer epidemiologist, medical oncologist and director of the Clinical Cancer Genetics Program.

Q: What are the positive consequences of Jolie’s public decision to undergo a prophy­lactic double mastectomy upon learning she possessed a genetic mutation that increases the risk for developing breast cancer?

A: There are several positive consequences. Jolie’s public announcement led to greater public awareness about genes associated with a high risk of breast cancer. It also shed light on the need for women to inquire whether they have a family history of cancer among close relatives on both their mother’s and father’s sides of the family and, if so, to seek out a genetics clinic for further evaluation to determine if they have an inherited familial syndrome. It also has made women aware of the importance of getting their breast cancer risk assessed, which can be done by either an internist or gynecologist.

Q: Do you think there are any negative consequences associated with Jolie’s public announcement?

A: Yes, possibly. Young women who have a strong family history of breast cancer or a BRCA mutation may now believe they have to undergo a bilateral mastectomy because Angelina Jolie did. Similarly, women with breast cancer may now believe they have to have bilateral mastectomies because Ange­lina did.

Q: What general advice can you offer to women who are concerned that they may carry a genetic risk for breast cancer?

A: I would advise women to carefully review their family history (including first- and second-degree relatives) to learn whether multiple generations of family members have been diagnosed with cancer: specifically breast (male or female), ovarian, pancreas or prostate cancer. Where possible, it is help­ful to confirm cases by obtaining pathology reports and/or medical records as well as genetic test results of other family members. For women with a family history of these cancers, I would recommend that they con­sult a cancer genetics and prevention service, such as BOSS. These services will assess for BRCA1 and BRCA2, as well as other familial syndromes that place women at higher risk for breast cancer. This same advice applies to women who have been diagnosed with breast cancer under the age of 50.

Q: What is the role of genetic counsel­ing, and why is it important for patients who are considering getting genetic testing to receive counseling prior to testing?

A: Genetic counseling is important for a number of reasons: to ensure careful evaluation of the family history for fa­milial breast cancer-related syndromes and determine whether genetic testing is appropriate, to explain the test and interpretation of results, and to explain the potential implication of the test for the patient and close family members. Immediate and ongoing follow-up after testing is also important for the purpose of outlining a management plan with the goal of preventing future cancers and/or identifying them early.

Q: What does the genetic test to determine the presence of the BRCA mutation entail?

A: Currently, the genetic test is rather simple—though costly, if your health insurance doesn’t cover it, although many now do—to find out whether you carry either of these gene muta­tions. A blood test, in which DNA is extracted, determines the presence of a BRCA mutation.

Q: What happens when a patient’s test results for the BRCA mutation are positive?

A: At a minimum, we recommend in­creased screening and surveillance that may involve a combination of MRIs and mammograms. The exact details will depend on a woman’s age.

Q: Are there circumstances in which you recommend that patients who test positive for the genetic mutation BRCA go beyond first-line surveillance and consider getting a prophylactic double mastectomy?

A: Prophylactic mastectomy is one management option for women with a BRCA mutation. Prophylactic mas­tectomy reduces a woman’s risk of developing breast cancer by up to 95 percent. It is a personal decision, and each case is different. Before making a decision, women need to be informed about the risks and benefits of this op­tion, as well as other management op­tions available. We realize the need for less drastic options and are conducting research toward the goal of evaluating new approaches to better determine a woman’s personal breast cancer risk. Stay tuned.

Q: What about prophylactic salpingo-oophorectomy?

A: Prophylactic salpingo-oophorectomy, the surgical removal of the ovaries and fallopian tubes, is another risk reduc­tion strategy. It reduces ovarian cancer risk, which in turn can reduce the risk of breast cancer by up to 50 percent in young women. At present, this is recommended for all women with a BRCA1 or 2 mutation post–childbear­ing and after age 35, as we do not have a proven screening strategy for ovarian cancer. Identifying a new strategy to detect ovarian cancer early is an active area of research at Johns Hopkins. We hope to be able to offer women other options in the future.

Q: What about the use of medications used for chemoprevention for women at high risk for breast cancer?

A: The goal of chemoprevention agents such as tamoxifen or raloxifene is to reduce the risk of breast cancer by decreasing the amount of estrogen that reaches breast cells. This is an oral medi­cation that is taken daily for five years and may be a good option for women who are at high risk for breast cancer.

Q: With so many options available—from surveillance to proactive measures to reduce risk—how can a woman who possesses a significant genetic risk for breast cancer make the best personal decision?

A: The decision between intense sur­veillance, chemoprevention and surgical preventive strategies is an individual one and involves weighing the risks and benefits. Factors such as the number of family members affected by cancer, the age of onset of breast cancer, the age of the individual and the type of muta­tion (BRCA1/2) all play a role. It’s really important that patients understand the rationale behind all their options and are comfortable with their decision before going forward. It’s not a one-size-fits-all decision. n

Before the Test: Genetic Counseling at the Breast and Ovarian Surveillance Service (BOSS)

A reputable medical counseling team can help determine which patients are strong candidates for genetic testing. At BOSS, a team of oncology and genetic experts guides patients individually through assessment and counseling to arrive at an informed decision. The process includes the following:

• A review of family history and other risk factors.

• An individualized breast cancer risk assessment.

• A discussion of inherited cancer susceptibility.

• Identification of familial inherited cancer syndromes.

• Individualized cancer prevention and surveillance information.

• Genetic testing for breast cancer.

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