Screening dilemma

After Andrea Roth received the devastating news that she had breast cancer, the Gaithersburg woman was advised that as an Ashkenazi Jew, she should be genetically tested to see if she had inherited a mutated gene that would predispose her to breast and ovarian cancers.

Six days later, the expedited test results showed that she did have a mutated BRCA2 gene, and Roth, the mother of two young children, quickly found herself immersed in a world of doctor appointments, surgery and chemotherapy.

BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. If either, or both, of these genes are mutated, cells are more likely to develop additional genetic alterations that can result in cancer.

Roughly 12 percent of women will develop breast cancer in their lifetime. But if they are a carrier of a mutated BRCA1 or BRCA2 gene, the chances of having cancer jumps to 50 percent by the time they are 50 years old and skyrockets to 80 percent by the time they reach 80, said Dr. Rachel Brem, director of breast imaging and intervention at The George Washington University Hospital.

Roughly one in 40 Ashkenazi Jews, whose ancestors came from Central and Eastern Europe, are carriers of the mutated gene as compared to one in 400 in the general population.

Roth wishes she had known she was a carrier before she received her diagnosis. “I think it’s a no-brainer, to be able to fight with every power to avoid getting sick. Put yourself into a power position,” she said.

Roth believes that being genetically tested – a simple blood test or swab of saliva taken from the cheek – allowed her to make informed decisions about her future. “How could you not want to know?” she questioned.

Now that she understands she is a carrier and how devastating cancer can be, Roth plans to have a hysterectomy in the near future to head off future cancers.

Which is why Dr. Ephrat Levy-Lahad, director of the medical genetics institute at Shaare Zedek Medical Center in Jerusalem, believes every Ashkenazi Jew, regardless of family medical history, should submit to genetic testing. Currently, only those with risk factors, of which being an Ashkenazi Jew is one, are advised to have genetic testing.

Levy-Lahad led a study of Israelis that tested about 8,000 healthy Ashkenazi Jewish men and found that some 175 of them were carriers. The study then screened the females in the family of these male carriers.

The study showed that just being an Ashkenazi Jew is an important factor in whether a person has a mutated BRCA1 or BRCA2 gene, and that the chance of getting cancer is still considerably higher than that of the general public, even if there is no family history.

The study only was conducted on Israeli women, but Levy-Lahad said that she believes the results would be the same for Ashkenazi Jews in the United States.

Levy-Lahad now is a strong advocate of requiring testing for all Ashkenazi Jews who are 30 years and older for these gene mutations. “In so many cases, the carriers were identified only once they had cancer,” she said. Getting tested “is not as common as it should be. There are plenty of carriers who have not been identified.”

By finding carriers early, women can meet with a genetic counselor and learn their options. “I personally think it’s time” for widespread testing, she said. “The whole goal is for people to know they are at risk, and there are preventative measures.”

But Dr. Nancy Markus, a breast cancer surgeon at Shady Grove Adventist Hospital, disagrees with universal testing. “The majority of Ashkenazi Jews don’t have the gene, and I don’t feel they should be tested unless there is some family history,” she said.

The testing would “create angst where there may not need to be any,” she said. Also, she said, carriers of the mutated BRCA genes don’t automatically get breast cancer. Another thing to consider is that if someone is found to be free of the mutated gene, “that can create a false sense of security that they are not at risk,” she said.

“You need to be educated about the pros and cons of the testing, what the results mean, what negative results mean,” she said. “Once they are educated and informed, they can make a decision” as to whether or not to be tested.

Brem, of George Washington University Hospital, also considers getting tested “a very personal thing,” she said, adding that some women want to know and others do not. In her opinion, all Ashkenazi Jews should be informed of their odds and then be allowed to make their own decision.

Having everyone genetically tested “may not be cost effective. Health care dollars are very limited,” she said.

While genetic testing is important, “the most important thing to do is get a physical exam,” said Dr. Larry Wickerham, associate chairman of the National Surgical Adjuvant Breast and Bowel Project (NSABP).

“Breast cancer is a Jewish disease,” said Leslie Ries, a breast cancer survivor. “If Jews viewed breast cancer the way they viewed Tay-Sachs, more progress and research will get done. Rather than waiting to get breast cancer, we should fund the research. We are so close to unlocking the doors. The key is the money,” said Ries, who initiated the John Fetting Fund and works to subsidize research on breast cancer prevention at The Johns Hopkins University in Baltimore.

Last Wednesday, researchers and scientists shared their latest findings at Johns Hopkins on several breast cancer prevention studies.

Sara Sukumar, co-director of the Breast Center Program is working on a new blood test that would discover the presence of cancer DNA in the blood of metastatic breast cancer patients with 95 percent accuracy.

“Through research on breast cancer prevention, we will be able to detect breast cancer at the earliest moment possible,” said Sukumar. “If we are able to catch breast cancer quicker, we will be ahead of the game in treatment.”

In addition, Kala Visvanathan, a geneticist from the Bloomberg School of Public Health, is working to identify genetic changes by monitoring normal breast tissue for early signs of a developing cancer. Breast surgeons are using tissue samples from women who are undergoing mastectomy for breast cancer to find exactly where the cancer is located.

“We want to find breast cancer before it is detected on the mammogram,” said Visvanathan. “The goal is to find who is at high or low risk. As soon as we realize who is at risk, we intervene earlier.” The last studies focus on using natural treatments to aid breast cancer. Researcher Dipali Sharma found that honokiol, a natural extract found in the bark of Magnolia trees, has the power to block the growth and migration of breast cancer cells.

After studying mice, researchers found that honokiol can decrease tumor growth and actually prevent breast cancer. In addition, Sukumar has recently discovered that curcumin, a prominent ingredient in Asian yellow spice turmeric, has anti-cancer effects. The Asian spice can help aid chemotherapy and improve its cancer killing effects.

While many researchers know where their projects are headed, lack of funding has placed roadblocks on their studies.

“We need to buy their time,” says John Fetting, associate director of clinical practices. “These ladies know where their research is headed. However, their research takes time. People want immediate results and won’t fund them. We still need more of the basic research and, of course, we need funding to do that. There is clearly work to be done,” said Wickerham.

Suzanne Pollak is a senior writer at Washington Jewish Week. Allie Freedman is a staff reporter at WJW’s sister publication, Baltimore Jewish Times.

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