BRCA Gene Mutation Targets Ashkenazi Jewish Women

Editor’s Note: This is part one of a multi-part series about Jewish genetic disorders.

As if Jewish women don’t worry enough, genetic factors make them statistically more susceptible to breast and ovarian cancer. Each year, close to 200,000 cases of breast cancer and about 25,000 cases of ovarian cancer are diagnosed. About 10 percent of these cases are related to heredity.

According to the National Cancer Institute, Jewish women of Ashkenazi (Eastern European) descent are five times more likely than women in the general population to have mutations of the BRCA1 or BRCA2 genes, tumor suppressors that prevent breast and ovarian cancer.

Thanks to technology, individuals today can be screened for the BRCA mutation. However just one lab in the country performs the test — Myriad Genetics based in Salt Lake City, Utah. Testing is expensive — about $3,000 — and health insurers vary on coverage.

Dr. Michael Grossman is an OB/GYN with a private practice in North Andover. Myriad Genetics has told him that most insurers will cover the cost of testing if the patient has “two events” in her history.
“Being Ashkenazi Jewish is considered an ‘event’ because the Ash­kenazi population has a carrier rate of 1:40 for BRAC 1 or 2, which is high.  Only one other event, such as a first degree relative with breast or ovarian cancer, usually qualifies the patient for testing,” Grossman said.

Grossman sometimes suggests BRCA testing for his patients, but stresses that the test is not for everybody. “A lot of people will ask for the test, assuming it will be negative. But a negative test does not mean they will not get these cancers; nor does it mean that they shouldn’t get mammograms,” Grossman said.

Not all women who test positive for the altered gene will develop cancer. However, a positive test implies significant risk. According to Myriad Genetics, the chance of developing breast cancer by age 70 is seven percent for the general population; and up to 87 percent for those with a BRCA1 or BRCA2 gene mutation. The risk of developing ovarian cancer is less than two percent for the general population, and up to 44 percent for those with the mutation.

“Does a person want that information? Can they handle it emotionally?” asked Grossman, who refers patients who want to pursue BRCA testing to a genetic counselor.

When an individual tests positive, it eventually leads to recommendations from healthcare professionals, some of which are quite invasive. While some women may opt for regular surveillance, others choose to have prophylactic mastectomies, or have their ovaries and/or uteruses removed. While such surgeries may diminish fears of contracting cancer, there are serious physical, emotional and financial ramifications to consider. For younger women, there are concerns about the ability to bear children.

Obviously, the decision by Jewish women to undergo genetic testing for the BRCA mutation is a very personal one.

Marilyn Glazer-Weisner of Swampscott chose to get screened after a mammogram in 2000 revealed breast cancer. “Seven of my girlfriends, all Jewish, were diagnosed with breast cancer around the same time I was. We all took the BRCA test, and we all came up negative,” said the 57-year-old educational consultant.

Glazer-Weisner was concerned that there might be a genetic predisposition in her family because her mother died at age 30 of cancer, and her sister, who is four years older, was diagnosed with breast cancer two weeks after Glazer-Weisner. Her sister has also tested negative for the BRCA mutation.

“Breast cancer is actually more common between sisters than among mothers and daughters,” said Glazer-Weisner, who has researched the subject extensively. “My sister and I are cousins through our father’s side of the family,” said Glazer-Weisner, whose paternal ancestors come from Kiev. “Although like many Jews we are related as a result of intermarriage, our cancer was apparently not caused by genetics,” she said.

Glazer-Weisner believes their cancers may have been caused by environmental factors, but she prefers not to dwell in negativities. “I do everything I can to reduce the risk that the cancer will return,” said Glazer-Weisner, who keeps kosher and maintains a positive attitude. Today, eight years after her diagnosis, she is cancer free.

A positive attitude is also important to Elaine Volk of Swampscott, who has battled cancer three separate times. Her first diagnosis, of cancer in the right breast, came in 1994. She underwent a lumpectomy, chemotherapy and radiation, and, following her doctor’s orders, took the drug Tamoxifen to prevent the cancer from recurring.

Four years later, the now 67-year-old developed cancer in the other breast. “I was devastated, but I guess in some ways it was easier because I knew what I was in for,” Volk said. She went through a similar regimen, and felt optimistic about the future.

“I thought I was out of the woods. I figured: I can’t get it a third time. I’ve had my share,” she said.

Her oncologist at Dana Farber never mentioned testing for the BRCA gene, even though two aunts on her father’s side of the family died of cancer at young ages, and her younger brother had battled prostate cancer.

“My daughters suggested that I take the BRCA test. I asked my doctor about it. He said, ‘what will you do if you find out you have it?’ So I dropped the subject,” Volk said.

Her daughters kept pushing, so unbeknownst to the physician; she took the test in February 2008. It took a month to get the result. She was positive for the BRCA mutation.

“I knew my chances of getting ovarian cancer were very high. The protocol was to have my ovaries removed,” Volk said.

In retrospect, Volk should have had the ovaries removed years earlier. When she went in for surgery, the doctor discovered Stage II ovarian cancer. She had a hysterectomy in April, and recently completed six rounds of intensive chemotherapy.

“Maybe I was too naïve and should have paid more attention to my body. I didn’t really have symptoms that were out of the ordinary. But I think I put too much faith in my doctors,” said Volk, adding, “I went for check-ups every three months and they would tell me that my blood work looked good.

“I would walk out of the office, thanking my doctor for keeping me healthy. I wish the doctor had taken the time that was spent chit-chatting giving me more news and information pertinent to someone who had experienced two bouts of cancer,” Volk said.

Volk wishes that she, and her doctors, had been more proactive. “I have learned that you have to take charge of your health. Although it is very complicated and difficult to do your own research, women need to be informed,” Volk said.

Knowing the genetic risk, her daughters were recently screened for the BRCA gene mutation. Much to their, and Volk’s, relief, both have tested negative.