By now, many of us have learned that the Ashkenazi Jewish population carries genetic mutations that drastically increase the risk of breast and ovarian cancer. But what does that mean for a Jewish woman whose grandmother, aunt, and mother have had these cancers? What does it mean for an Ashkenazi woman newly diagnosed with breast cancer? What does it mean for me, a doctor, a descendent of Polish and Ukrainian Jews, a mother of a two-year-old daughter, and someone whose own mother was diagnosed with breast cancer at 43, two months before my brother’s bar mitzvah?

Sharsheret (“chain” in Hebrew), an organization which pairs young Jewish women facing breast cancer, or at high risk for cancer, with others who have had similar experiences, hosted a breast cancer genetics symposium this October in New York City to parse out some of these questions. Physicians, social workers, a genetic counselor, a documentary maker, and a veterinarian-turned-patient-advocate pooled their knowledge and experiences to shed light on the buzzing cloud of questions and worries that swirl around this issue. Most, if not all, of the presenters were Jewish, and their frequent use of “we” and “us” fostered the sense that patients, family members, and “experts” are all in this together.

Women born Jewish share this health problem because we are genetically part of the larger Jewish family tree. Dr. Ruth Oratz, an oncologist with an appointment at New York University School of Medicine who practices in Colorado, traced the Askenazi, Sephardi, and Middle Eastern branches and the origins of the different mutations within the family tree. She explained that genetic mutations became concentrated among Jews thanks to historical and cultural factors that rendered our community cohesive, isolated, and small.

Other researchers presented the latest epidemiological and genetics research, including results from The New York Breast Cancer Study which investigated BRCA1 and BRCA2 mutations in New York-area Ashkenazi women newly diagnosed with breast cancer, and in their families. My own mother, raised in New York’s Westchester county, could have been one of the women in this study: one in 10 of them had a gene mutation: 50 percent of those, like my mother, had little or no family history. (Maybe I should call my doctor about that MRL..) The slides flashed up with statistics on lifetime risks of cancer, family trees, and recommendations for genetic testing, surveillance, and preventive measures (see sidebar). The medical information, full of jargon and technical details, takes concentration and thoughtful explanations to understand, but it has a certain hard-edged solidity. Other presenters focused on the troubling, murkier, “psychosocial” dimensions: the emotional and ethical dilemmas facing both women making the decision whether or not to get tested and the many uncertainties facing “pre-vivors,” women who have tested positive for a mutation, but who have not developed cancer.. .yet.

From a medical standpoint, the goal is to identify women who carry the mutations and help them do whatever they can to prevent, delay onset, and catch the cancer early so that it can be treated more successfully. “Knowledge is power,” said a physician during the symposium. The more a woman knows about her genes, her risks, and her medical surveillance and treatment options, the better. Makes sense. But that doesn’t mean that deciding to get tested, or figuring out what to do with the results, is straightforward.

Unfortunately, the knowledge we have from medical science is still insufficient, and this means that knowledge may bring more harm than good. Consider the limitations, for any individual woman, of population-based statistics. A woman who learns she carries a BRCA1 or BRCA2 mutation knows she has an 80 percent risk of developing breast cancer, but it isn’t a 100 percent risk. Is it worth undergoing a bilateral mastectomy before any cancer is present or even suspected, even though she might be one of the 20 percent who never will get cancer? The concept of risk includes not just statistical probabilities but also each woman’s emotional response to those numbers.

Living with an inherited cancer predisposition brings out questions we all face, but often prefer to push out of our minds. How do we avoid becoming over-whelmed by fear of future illness or death? What kind of steps are we willing to take in hopes of some peace of mind?

Much of the clutching dread we feel when considering this topic comes from the way breast and ovarian cancer affect the parts of our body that literally and psychologically link us to the people closest to us: our sexual partners and our children. The idea of cutting out vital parts of our body, or suffering potentially lethal disease of those parts, is a deep threat to our fertility and sexuality. Dr. Oratz reassured the symposium audience that most women with the genetic mutation who have not yet developed cancer can wait to have their ovaries removed until after childbearing, and can often put off mastectomies until after breastfeeding. All too often, doctors have dismissed and dispatched women’s breasts, ovaries, and uteruses as optional organs. But it is no easy thing to say goodbye to the breasts your children suckled and your lover caressed or the ovaries, source of your eggs, even when their utilitarian functions are past.

This brings us back to the surgical solutions offered to previvors. The evidence shows that removal of both breasts and ovaries will prevent cancer in most cases. Not exactly the miracle cure we were hoping for. And yet each pre-vivor must make this hard decision: incorporate intensive surveillance for cancer into her life, hoping to catch it early if it appears, or undergo prophylactic surgery. Dr. Susan Friedman, who founded and heads FORCE: Facing Our Risk of Cancer Empowered, came up with the label “previvors” to better describe these women, for whom the medical term, inaccurate and dismissive, is “unaffected carriers.”

Tara Freundlich, a mother of two, whose mother and grandmother both died in their 50s of breast cancer, and whose maternal aunt died in her 40s of ovarian cancer, “knew the women in my family didn’t get old: they died.” She put off getting tested for the mutations, because she had already made up her mind to get prophylactic mastectomies if she tested positive, and she wasn’t ready to face that. But at 46, the day the tech performing her annual mammogram said “We need some more pictures,” a wave of fear passed over her, and she started berating herself for not acting sooner. She called her sister, they both went in to see a genetic counselor, and she ultimately tested positive for BRCA2. She’s had her ovaries removed, a bilateral mastectomy, and breast reconstruction. “My body image is good—I think my body looks better than it has in years,” she says. The hardest part is her lack of desire, due to her low hormone levels. Once her husband entices her, she says, sex is just as good as ever, but the desire never occurs to her ahead of time, and she misses that. On the whole, she emphasizes, she views her surgeries positively: “For the first time in my life I envision myself getting old.”

Nina Allen, a 49-year-old musician, whose mother recently died of ovarian cancer, and who has a BRCA2 mutation, decided to get a prophylactic oophorectomy, removal of the ovaries. This turned out to be much easier than she expected: “they just popped those little babies out through a little peep-hole.” She had almost no side effects and feels her peace of mind is priceless. But she has decided to rely on continued surveillance of her breasts, through a study at a major medical center, rather than getting mastectomies. “There is so much I can do for testing, I feel like I don’t have to be that drastic.” But not everyone feels the same. Another woman, who is planning to undergo bilateral mastectomy, isn’t willing to watch and wait, “Tamoxifen and worry are not for me.” Both Tara and Nina expressed the wish that their mothers could have had access to prophylactic surgeries.

The issue of inherited breast cancer raises other concerns that have particular weight in Jewish values. Locating the source of the problem in our genes evokes memories from the Holocaust and other times in history when we have been accused of having “bad genes” or tainted bloodlines, as Dr. Stewart Fleishman, director of cancer supportive services at Beth Israel Medical Center in New York, reminded the audience. The genetic source of the disease also brings family relationships to the fore, linking us to the generations above and below us, and to our siblings. For example, Beth Murphy, the documentary filmmaker, recounted the story of four sisters whose mother had died of ovarian cancer. The women disagreed about whether to get tested, but they would all be affected if any of the sisters tested positive. Other presenters discussed common concerns about the impact on the next generation. So much of Jewish tradition focuses on what we transmit to our heirs that many women feel guilt toward their children for passing on to them a booby-trapped genetic legacy.

In the Hasidic community, there are particularly strong implications regarding fertility, privacy, and the impact on children’s standing in the community. Rivi Katz, a social worker at Sharsheret, said the Orthodox women with cancer she sees skip over expressing any concern for themselves, and ask straight off, “Will it affect my kids’ matches?” These women find themselves in an ethical quandary: if they find out their cancer is inherited, they have an obligation to disclose the information during matchmaking, so they feel maybe they shouldn’t get tested. An additional barrier to genetic testing is the concern about their rabbis’ potential disapproval not only of testing, but also of the fertility-reducing treatments that may follow.

Dealing with rabbis as middlemen (and in the Orthodox community they are all men) in medical decision-making is a challenge for clinicians. One rabbi wanted to speak to a doctor on behalf of a woman patient, and had to be convinced to send her to see the doctor in person. The clinicians and social workers at the symposium are working on outreach and education for rabbis, to facilitate their patients’ health care. Dr. Sheldon Feldman, chief of the breast surgery division at Beth Israel, cited rabbinical writings in favor of genetic testing for Tay-Sachs, an Ashkenazi genetic disease for which a couple can now be tested in advance of marriage or pregnancy, as a precedent for future rabbinic support of testing and treatment for inherited cancer.

The current, state-of-the-art medical information about the breast cancer mutations came to light in part because of American Jewish educational values and embrace of medicine’s lifesaving endeavors. So our history as a culturally distinct ethnic group is the source both of the scourge of inherited cancer and of the resources to meet these hardships. In the Jewish tradition of communal obligation, all the women interviewed for this article expressed their deep commitment to helping others by telling their stories. Gayle Sobel, who herself carries the BRCA2 mutation, is scheduled for prophylactic mastectomies. Through FORCE, she has met with a group of predominantly Jewish pre-vivors in New Jersey, with whom she has found “finally a place where 1 fit…a sisterhood.” She prepared herself for her surgery and reconstruction, in part because women in the group were able to show each other the results of different types of reconstruction.

Now she says she has “a new crusade of education” to encourage women, even if they’re scared, to inform themselves. “I’m sad. I’m angry. But I’m grateful I have options. The more women know, the more we can help ourselves and support each other.”

Shala Erlich, M.D., a writer in Seattle, concentrates on stories about
health, medicine, and the experience of patients.

Just for the Record

There is no evidence of any link between abortion and breast cancer. This is the conclusion of scientific reviews by the National Cancer Institute and the leading British medical journal, the Lancet. (To view the NCI report, go to http://www.cancer.gov/cancerinfo/ere-workshop-report). Flouting the scientific evidence, government-issued brochures warning that abortion increases the risk of breast cancer are given to women considering abortion during mandatory waiting periods in several states, according to the Associated Press.

Karen Malec, president of the Coalition on Abortion/ Breast Cancer, whose mission is to spread the abortion cancer myth under the guise of “educating and providing information on abortion as a risk factor for breast cancer,” has the chutzpah to call the National Cancer Institute’s conclusions a “perversion of science by politics.” Please help spread the scientifically sound facts, and fight back against misinformation that unnecessarily frightens women facing, or looking back on, a weighty choice. You can make an impact by contacting your state and federal representatives to express your concern about this issue and by supporting pro-choice organizations, such as NARAL and Planned Parenthood.

The Facts, Ma’am

• Only 10% of breast cancer is due to inherited predisposition. Much of inherited breast cancer among Jews has been attributed to three mutations in the BRCA1 and BRCA2 genes.
• When the BRCA1 gene mutates, loss of its normal function can lead to uncontrolled overgrowth of cancerous cells.
• The BRCA1 and BRCA2 mutations can be inherited from your mother or your father. They are present in men and women equally, but increase men’s cancer risk much less.
• In the general population, women have a 12% lifetime risk of breast cancer, but women with BRCA1 or BRCA2 mutations have an 80% lifetime risk of breast cancer. For ovarian cancer, the lifetime risks are 2% (general population), 40-65% (BRCA1 mutation-carriers), or 20% (BRCA2 mutation-carriers).
• Among of Ashkenazi Jews, 2 to 2.5% carry one of these mutations. This is 5 to 6 times as common as in the general population.
• Little is known about how common these mutations are, but there Is some evidence that the BRCA1 mutation is also present in Sephardi and Middle Eastern Jews.
• No federal law adequately protects against employer and insurance discrimination for mutation-carriers.
• In addition to Sharsheret, good resources for information and emotional support include FORCE: Facing Our Risk of Cancer Empowered (http://www.facing ourrisk.org) and Breast Cancer Action (http://www. bcaction.org).

Should YOU get genetic counseling and testing?

Your risk of carrying a mutation is higher if you are of Ashkenazi Jewish descent, if you have more than one close relative with a history of breast or ovarian cancer, if you or your relatives developed cancer before the age of 50, or if you or any of your relatives have had breast cancer In both breasts, or the same person has had both breast and ovarian cancer. Although very specific criteria exist for BRCA1/BRCA2 testing (http://www. nccn.org), your own level of concern is a good indication for deciding to pursue genetic counseling.

What if you test positive for a mutation?

• Increased surveillance, including monthly self-breast exams, quarter or semi-annual physical exams, and yearly mammograms, MRIs, ultrasound evaluations and blood tests to screen for ovarian cancer. The most effective methods and frequency of surveillance are actively being researched. For recent, detailed recommendations, refer to the National Comprehensive Cancer Network (http://www.nccn.org).
• Ask about chemoprevention, for example a drug like tamoxifen which may help prevent cancer.
• Consider lifestyle changes even before any signs of cancer: improving exercise, diet, and tobacco and alcohol habits. The NY Breast Cancer Study found that regular exercise and a healthy weight during adolescence and young adulthood delayed the onset of cancer In women with the mutations.