The Human Spirit: BRCA on my mind

The testing for BRCA, a simple blood test, was the easy part; contemplating the result had huge ramifications.

By BARBARA SOFER
Breast cancer ribbon (photo credit: INGIMAGE)
Breast cancer ribbon
(photo credit: INGIMAGE)
About a decade ago, I was moping over the death of my cousin Ellen Schwartz, who at age 49 had lost a battle to breast and ovarian cancer. I was at a table for an awards ceremony at Hadassah University Medical Center, and I happened to be sitting next to Dr. Tamar Peretz, who is an expert on breast cancer and who has spent most of her career taking care of Jewish women. When I mentioned Ellen, Peretz advised me that I needed to be tested for a mutation on my BRCA gene.
I’m not a health writer, and this isn’t a health column. But recent recommendations by University of Washington scientist Mary-Claire King, a pioneer in the field of BRCA gene study, that regardless of family history, 30-year old women – particularly Ashkenazi Jewish women – be tested for BRCA mutations have me worried.
Almost since the discovery of the link between the BRCA mutations and breast and ovarian cancer, researchers have focused their study on us Ashkenazi Jewish women.
How did this happen? Not – as you might suspect – because oncologists noticed higher rates of breast cancer among Jews.
The story is revealed in a back issue of The American Journal of Public Health (November 2006), in an article called “Ashkenazi Jews and Breast Cancer: The Consequences of Linking Ethnic Identity to Genetic Disease.”
The lead author is Sherry I. Brandt- Rauf, a sociologist at the University of Illinois who has investigated ethical and social aspects of genetic testing.
It turns out that early researchers in the 1980s and early 1990s didn’t target us Ashkenazi Jews. In fact, they didn’t think that breast cancer, with its multiple cause factors, could be connected to a specific ethnicity or race. Instead, they focused on families with multiple cases of breast cancer, so-called cancer-prone families. In 1994, a group at Myriad Genetics in Salt Lake City, Utah, led by geneticist Mark Skolnick, isolated and sequenced BRCA1.
They were working with Mormon, not Jewish, families. Skolnick wanted to “use the power of the Mormon family history and pedigrees to help map and clone genes.”
The following year, a National Institutes of Health team headed by Jeffrey Struewing screened the DNA of 24 cancer-prone families in the National Cancer Institute’s family registry. Ten had BRCA gene mutations, but three families with a specific, identical mutation turned out to be Ashkenazi Jews.
At the same time, a research group in Montreal’s McGill University found that eight families shared a common mutation. They were all Ashkenazi Jews, too.
Although neither team specified how it had identified participants as Ashkenazi Jews, their findings led to redirection of BRCA1/2 research toward us – much of it in Israel by researchers like Peretz, with whom I was having lunch. The theory is that we have a common ancestor with the “founder mutation.” The Mormon Latter Day Saints movement only began in the 19th century.
Our history is so much longer that the Jewish breast has become a treasure chest for researchers. One American researcher – I kid you not – even speculates that BRCA mutations might be connected to higher intelligence. Notice that no one thinks Judaism “is just a set of religious beliefs”; they assume a national character as well.
My usual musings about the Jewish people notwithstanding, how did this impact me and my family? BRCA testing is covered by medical insurance in Israel if you have a relative with cancer. But to be tested in Israel, you need an appointment with a genetic counselor who is an expert in this field. My sister and I were fortunate enough to get Dr. Michal Sagi, a recently retired Hadassah researcher in this field, to examine our particular family history.
Both my American-born parents grew up in Litvak-accented Yiddish-speaking families from the area they spoke of as Poland but which I assume is actually Belorussia.
Doctors and nurses doing my usual medical intake had always told me that they were more interested in my mother’s family than my father’s. That was a myth, but a persistent one. My mother, her three gregarious sisters and her brother were all alive and aging well a decade ago. They would all approach or surpass their ninth decade without breast cancer.
Both my father and his brother, Ellen’s father, had died in their early 60s, but neither from cancer. What about their other five siblings? They, too, had died relatively young. And yes, my Aunt Rachel had died in her 50s of what was then called “a woman’s cancer,” as had her mother, my paternal Grandmother Odes.
There was no way of going back in time to learn more about their genes, but Dr. Sagi thought from the description of their illnesses that they might have died of ovarian cancer, as my first cousin had. That would mean there were possibly three generations of ovarian cancer, and a high likelihood of the BRCA gene. I tell this in such embarrassing detail because before we had genetic counseling I didn’t think I had a family history that would connect me to the BRCA gene.
Ellen had worked at Yale University in Connecticut and been treated in its top-tier Yale-New Haven Hospital. Her husband told me she had not been tested for the BRCA gene mutation because she was an only child and they had not been blessed with children.
The testing for BRCA – a simple blood test – was the easy part.
Contemplating the result had huge ramifications.
The only way to significantly lower the risk this mutation presents is to get rid of your ovaries, and then possibly your breasts. And then I could imagine telling my sons and daughters, all of whom were at the age to establish their families. How would this burden impact their marriage choices and parenting? I was nervous waiting for the results, and I was already beyond my child-bearing years. I can’t imagine how a woman of 30 would feel facing this test. To make this more complicated, although the newest studies show that there are possibly more BRCA mutations than among those with family histories, it’s not clear if the others with mutations are equally subject to breast and ovarian cancer. A young woman might contemplate removing her ovaries and breasts even if her mutation would not result in cancer.
Add to that the population statistic that Jewish women in the Diaspora tend to marry later and begin their families after age 30. How many would have an experienced genetic counselor guiding their process and decisions? Then picture nearly every young Jewish woman facing this life dilemma.
On the other hand, might dear Ellen be alive today if she’d been tested when she was 30? My sister and I had different health insurers (kupot holim), but we were both covered for the test – so cost wasn’t a factor.
Frankly I expected to be found a carrier.
I cleared my schedule for the possibility of having an oophorectomy, removal of ovaries.
I even discussed it with a top gynecological surgeon. That would only be a first step, of course.
The results were negative. Neither my sister nor I have these mutations. That means that if my grandmother, aunt and cousin had them, fortunately they weren’t passed on to my father and through him to us.
That means my children don’t have this mutated gene (unless it’s through my husband – also Ashkenazi).
A relief, certainly – but not a free pass from regular medical checks that every woman needs to undergo as part of her regular health care.
Not long ago, I went back for a second appointment with Dr. Sagi to learn if newer research would require additional genetic testing. The answer was no. The only news was that she had found a mutation among our Sephardi sisters whose ancestors left Spain in the 1492 Expulsion.
Several of my children have married non-Ashkenazi Jews. A new gene to test my grandchildren for.
Our personal history is interwoven with our national history. While we are eager to contribute to the world, we need a balanced approach. We need to know our genetic history, but it cannot become an impossible hurdle in the lives of Jewish women who want to become mothers in Israel.
The author is a Jerusalem writer who focuses on the wondrous stories of modern Israel. She serves as the Israel director of public relations for Hadassah, the Women’s Zionist Organization of America. The views in her columns are her own.