Most Jewish women without a family history of breast or ovarian cancer generally assume genetic testing for BRCA mutations is not for them.
However, a recent study conducted in Israel and published in the Proceedings of the National Academy of Sciences has such women now wondering whether they should be tested for the inherited mutations on in the BRCA1 and BRCA2 genes that indicate increased risk of both diseases.
It is widely known that BRCA mutations are found more prevalently among people of Ashkanzi Jewish descent than among members of the general population. (It is believed that the mutations are present in up to 2.5 percent of Jewish women.)
However, what this new study finds that Ashkenazi Jewish women who tested positive for the BRCA mutations during random screenings also have high rates of breast and ovarian cancer. And here’s the kicker: These women often have no family history of either deadly disease.
The study’s lead author, Dr. Ephrat Levy-Lahad, director of the Medical Genetics Institute at Shaare Zedek Medical Center in Jerusalem, reported that of the 211 mutation carriers she identified through random testing, 60% of the BRCA1 carriers and one third of BRCA2 carriers had developed breast or ovarian cancer by age 60, and 83% of BRCA1 carriers and 76% of BRCA2 carriers had developed either breast or ovarian cancer by age 80.
According to Dr. Steven Narod, a world-leader in the field of breast and ovarian cancer genetics at the University of Toronto’s affiliated Women’s College Research Institute, this new study, although it has gotten a lot of media attention, does not actually break any new ground.
“Everything in this study we did four years ago. It’s not new or novel,” he tells The Times of Israel.
Current health guidelines
As a result of their research, leading breast and ovarian cancer genetics researchers like Levy-Lahad and Narod recommend routine screening of all women of Ashkenazi descent for the harmful mutations.
“This should be offered as a universal screening test,” Levy-Lahad told The New York Times. “We should be testing people who are still healthy at a stage when we can prevent the disease.”
The experts may recommend widespread testing, but there are several factors that stand in the way. Some have to do with public health policy and resources. Others relate more to how women themselves perceive the pros and cons of knowing whether they carry the mutations.
Similarly, in the United States, there is not a great deal of support for routine genetic testing. The United States Preventive Services Task Force recommends against BRCA testing for women without a family history of harmful genetic mutations. The American Cancer Society recommends testing primarily for people with relatives who have developed breast or ovarian cancer only at a young age.
Narod and his team have already tested thousands of women in Ontario, most who do not have a family connection to breast or ovarian cancer. His research has shown that one percent of Jewish women in Ontario carry a BRCA1/2 mutation, but fewer than half of these women qualify for provincially funded genetic screening.
Proponents of widespread testing, also known as population testing, believe current guidelines ignore the fact that the genetic predisposition to breast and ovarian cancer can be hidden in families. This is because the mutation can be passed down not only by females, but also by males. For this reason, reliance on family medical history may not be enough.
What if a woman tests positive for a BRCA mutation?
A study by Narod and others published in 2010 in Clinical Genetics demonstrated that women tested randomly and found to have a BRCA mutation showed higher stress levels than women who tested negative.
According to another study by Narod, this one published in 2012 in Breast Cancer Research and Treatment, 11.1% of women found through population testing to have a BRCA mutation underwent a prophylactic mastectomy within two years, and 89.5% opted for an oophorectomy within the same time frame.
“The implications of the results of BRCA mutation testing can lead to complicated and life-altering decisions for individuals, including major surgery, potential infertility, and the early onset of menopause,” says Elana Silber, director of operations at Sharsheret, a New Jersey-based national nonprofit organization supporting Jewish women facing breast cancer and their families.
“Sharsheret encourages every woman to understand her family history and to speak with her health care team about the screening and counseling options best suited for their individual circumstances,” Silber says.
And despite calls by Levy-Lahad, Narod and others for widespread BRCA testing among Ashkenazi women, not all Ashkenazi women are in favor of it. Opponents even include women such as Jerusalem-resident Karen Lakin, who herself was diagnosed with breast cancer in 1992 at the age of 51.
Lakin, who had a mastectomy, watched her mother die at 73 from breast cancer that had spread to her bones and liver. Lakin herself has tested negative for the BRCA mutation after her surgery, but she is not encouraging her daughter, who is in her early 40s, to be tested.
“I would not recommend that all women get tested,” Lakin says. “Too much information is stressful.”
Instead of widespread testing, Lakin thinks Jewish women, who she says generally have access to good healthcare, should just live healthly lifestyles and be vigilant by doing self-exams and having regular mammograms.
“It would only be worth testing if there were a way of preventing the gene from expressing as cancer,” Lakin says, adding that not all women found to have a BRCA mutation go on to develop cancer.
This high rate of cancer occurrence in Levy-Lahad’s study also does not convince 53-year-old Rose Barlow, who tested positive for BRCA1, that widespread testing is beneficial at this point. Barlow herself had a prophylactic salpingo-oophorectomy (removal of her ovaries and fallopian tubes).
The current inability to identify a more complex set of markers that would indicate a high likelihood of the expression of the cancer-causing mutations makes Barlow, who lives in San Rafael, California, hesitant about population testing.
Her attitude might change in the future, should those additional markers be identified.
“People with the mutation and the additional markers would be better able to make decisions about drastic measures such as prophylactic surgeries based on nuanced risk assessments, rather than blind hysteria. These surgeries can be life saving but are not without significant downsides,” says Barlow. Her mother and aunt inherited BRCA mutations from their father and both died from ovarian cancer in their early 50s.
While BRCA testing has been at the forefront for women with personal or family histories of breast or ovarian cancer, it has been only at the back of 50-something Laura Kam’s mind. This has changed since she read about the new study done in Israel.
Kam, a Jerusalem PR professional, has no close relatives who have had breast or ovarian cancer. She does not know yet whether she wants to be tested, or what she would do if she found out that she carries the genetic mutation.
“My gut reaction would be to deal with my ovaries. In my mind, that would be a no-brainer,” she says. “A preventative mastectomy would be far more complicated.”
“I haven’t decided yet whether to get tested, but I am definitely going to discuss it with my gynecologist at my next appointment,” she says.
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