Breast Cancer Prevention Has a Friend in Genetic Testing


Jill Mull was just 32 when she learned she had an aggressive form of breast cancer. The young Jewish mother of twins was hoping the mark on her breast was simply a cyst, but a checkup resulted two days later in a lumpectomy.

“I had five surgeries in a year and nine months and underwent chemotherapy,” said Mull. “I lost all my hair and was sick for a very long time, but I am now cancer-free.”
As an Ashkenazi Jewish woman, say researchers, Mull was already at a higher risk for the disease.
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 — human genes that code for tumor suppressor proteins and that have been implicated in cancer formation — 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 compared with one in 400 in the general population.
As a new debate in breast cancer prevention focuses on the benefits of genetic testing, Andrea 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,” she said. “Put yourself into a power position.”
Roth had been counseled into being genetically tested — a blood sample or saliva swab is all it takes — only after a biopsy indicated that a lump she had was malignant. Armed with the resulting information that she was a carrier of the BRCA mutation, she decided to upgrade a lumpectomy to a mastectomy. She also plans to have a hysterectomy in the near future to head off further cancerous development.
Which is why Dr. Ephrat Levy-Lahad, director of the medical genetics institute at Shaare Zedek Medical Center in Jerusalem, believes every Ashkenazi Jew over the age of 30, regardless of family medical history, should submit to genetic testing. Currently, only those with risk factors are advised to have genetic testing.
Levy-Lahad led a study 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.
While the study only focused on Israeli subjects, Levy-Lahad believes the results would be the same for Ashkenazi Jews in the United States.
“In so many cases, the carriers were identified only once they had cancer. That was one woman too late,” 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 sit down with a genetic counselor and learn their options, the researcher added. “I personally think it’s time [for widespread testing]. 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 who graduated from Temple University School of Medicine, disagrees with universal testing. “The majority of Ashkenazi Jews don’t have the gene,” she said. “And I don’t feel they should be tested unless there is some family history.”
The testing would “create angst where they may not need to be any,” she explained. Also, 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.
“You need to be educated about the pros and cons of the testing, what the results mean, what negative results mean,” she continued. “Once they are educated and informed, they can make a decision” as to whether or not to be tested.
Brem considers getting tested “a very personal thing,” 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 about whether or not to be genetically tested.
Having everyone genetically tested “may not be cost-effective. Health care dollars are very limited,” she added.
While genetic testing is important, “the most important thing to do is get a physical exam,” said Larry Wickerham, associate chairman of the National Surgical Adjuvant Breast and Bowel Project.
Others are adamant that the ethnic aspects of breast cancer must be taken into account.
“Breast cancer is a Jewish disease,” said Leslie Ries, a breast cancer survivor who established the John Fetting Fund for Breast Cancer Research with her husband, Tom. “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.”
This article first appeared in the Baltimore Jewish Times.


Please enter your comment!
Please enter your name here