Efrat Roman says she knew "forever" that she was a carrier of the gene - way before she ever underwent any screening, and way before three tumors were discovered in her right breast.
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Her grandmother and all her grandmother's sisters had been diagnosed with either breast cancer, ovarian cancer, or both, and her mother was treated for breast cancer in her early forties. So at age 38, after she had given birth to her second child and decided it was time to get herself tested, Roman was not surprised to learn she was a carrier of the so-called "Ashkenazi gene" - a mutation in one of the two BRCA genes that causes a predisposition to breast and ovarian cancer, and is found in much higher rates among Ashkenazi Jewish women.
Roman is one of an estimated 30,000 women in Israel who carry this mutation, according to Dr. Tamar Sella, director of the Marlene Greenebaum Multidisciplinary Diagnostic Breast Center at Hadassah University Hospital, Ein Karem. It is the same mutation that caused actress Angelina Jolie to have both her breasts removed in order to dramatically reduce her risk of breast cancer, making headlines the world over after she wrote about her choice in The New York Times.
Although Jolie's story resonates strongly with her, Roman, a 47-year-old divorced mother of two, says she could not bring herself to make a similar decision.
"When the option of preventative mastectomy was first presented to me after I'd tested positive for the mutation," she recalls, "I said no. Cutting off my breasts without being diagnosed with cancer seemed to me to be far-fetched. Breasts are a very big issue, and we live in a world obsessed with breasts."
About a year later, though, an MRI screening indicated she had cancer in her right breast. "Both the mammogram and the ultrasound showed that everything was OK, but the MRI - and this is the first one I did - found three tumors," she says. "It was clear I had to get one breast removed, so given the choice of continuing to live with fear and anxiety or going for a bilateral mastectomy, I decided to have them both removed. The only thing that made the decision bearable was that I was really sick. Having cancer made the choice easy for me."
With the largest concentration of Ashkenazi Jewish women in the world, Israel has, naturally, emerged as an international research center for BRCA mutations. According to Sella, in the overall population one out of every 350-500 women (about 0.3 percent) carry this mutation. Among Ashkenazi Jewish women, the rate rises about tenfold to one in 40 (or 2.5 percent). Among women carrying one of the BRCA mutations, the lifetime risk of developing breast cancer is 50-80 percent. Risk-reducing (also known as prophylactic) mastectomies, she says, reduce this risk to barely 3-5 percent. Still, she notes, only about 10 percent of breast cancers are genetic.
New research at Hadassah has shown that not only Ashkenazi women are more likely to carry cancer-causing genetic mutations. Such mutations have also been identified recently in Sephardi women, as well as Jewish women of Yemenite and Iraqi descent, according to Sella. And although genetics only account for a small share of breast cancers, the preponderance of BRCA genetic mutations in Israel may very well explain why women in this country are predisposed to the disease more than elsewhere - one out of every 7.5 women in Israel, as compared with one out of eight or nine in other Western countries.
What percentage, upon discovering they are BRCA mutation carriers, opt to take the Jolie route and have both breasts removed? Hard statistics are difficult to come by because many of these surgeries, both in Israel and abroad, are done in private hospitals and clinics. Quoted in The New York Times this week, Dr. Kenneth Offit, the chief of clinical genetics at New York's Memorial Sloan-Kettering Cancer Center, estimated that about 30 percent of women choose risk-reducing mastectomies.
Although the Health Ministry says it does not have any available statistics on prophylactic mastectomies in Israel, Sella estimated that the rate in Israel is lower than in the United States but growing in recent years, as breast reconstruction surgery has become more advanced. "Today, it's a one-step operation," she notes. "A woman goes into surgery with breasts and comes out with breasts."
Dr. Tanir M. Allweis, a surgeon and director of the Breast Health Center at Kaplan Hospital, Rehovot, estimates that about 10 percent of BRCA gene-mutation carriers in Israel opt to undergo prophylactic surgery. "There are many factors that come into play," notes Allweis, who also serves as a consultant to the Israel Cancer Association and chairwoman of the Israel Senologic Society. "For example, a carrier with small children who lost a mother or close relative to breast cancer - that will definitely influence the decision."
Among women like Roman, who have already been diagnosed with cancer in one breast, the percentages are much higher, says Prof. Tamar Peretz-Yablonski, director of the Sharett Institute of Oncology at Hadassah. "With these women, about half will choose to remove the second breast," she says. "Among those carriers, who have family members who died young of cancer but have not yet been diagnosed themselves with the disease, the rate is probably 20-30 percent."
New research at the institute shows that not all women who carry the BRCA mutations are at equal risk of developing breast cancer. "We've found that among women who have close relatives with the disease, the risk is higher," says Peretz-Yablonski. "We're now looking at what some of the other factors might be."
A major factor that distinguishes diagnosis and treatment in Israel from the United States, the experts note, is cost. In Israel, once a woman has undergone genetic consulting and is considered to be at risk of carrying a BRCA gene mutation, the standard screening examination - a simple blood test - is covered under national health insurance. In the United States, depending on coverage rates and terms, and whether a patient is covered at all, the screening can cost upward of $3,000. In Israel, as well, once a woman tests positive for the mutation, prophylactic surgery is covered in full by insurance.
For women in Israel found to be carriers of the BRCA gene mutations, doctors recommend that they have their ovaries removed once they finish having children, ideally before the age of 40. Among carriers of the mutation, notes Sella, the lifetime risk of ovarian cancer is 40 percent. "Ovarian cancer is difficult to pick up early and can be very aggressive," she explains.
Doctors are less likely, however, to push for breast removal over other options, she notes. "With screenings, it's much easier to pick it up at an early stage," she says. Gene-mutation carriers in Israel are examined every six months from as early as age 25 and undergo MRI screenings once a year. "Not every woman who carries this mutation is going to get cancer, and women who opt not to remove their breasts can still take very good care of themselves," she adds. "It's a personal choice, and there's no right or wrong thing to do."
Although she feels she was well informed about the different options available, when it came time to make her own decision, Roman says she could have been much better prepared going into her surgery dealing with what she calls basic "day-to-day" things. "I had no idea where to get a post-op bra, shirts with special sleeves to get my arms into, and all those other special items a woman needs after she's gone through this sort of surgery."
Her frustrations, though, have found a positive channel: Next month, Roman will be launching a new startup called "Cure Diva," which she describes as a "one-stop shop and community" providing useful advice, tips and products for sale as well as an online support system for breast cancer patients and survivors.
Roman lauds Jolie for coming out and talking about the difficult decision that she and others like her face. "It is one of the most intimate and personal choices a woman can make," Roman says. "Living with the fear, as I see it, can cause illness more than anything else. I really respect her choice, even though I chose differently. But I think the discussion is important, and it's going to change things a lot."