In 2004, Englewood resident Dr. Ariela Noy, an attractive, vivacious mother of three, went for a routine gynecologic exam. "I had a ‘before’ in my life, and an ‘after’ in my life," she said of how her life changed on that day. On Jan. 17, 2005, she received an e-mail message from her oncologist colleague, who wrote, "Your test results are in. You want to come by and chat?" A physical exam the previous November revealed the presence of uterine fibroids, common growths that are usually benign. But genetic testing also revealed that Noy was BRCA positive, that is, she carried a mutant BRCA2 gene. Noy, a physician at Memorial Sloan-Kettering Cancer Center, understood the implications of that all too well.

She was 40, and her genetic test results meant that she already had a 10 percent chance of having breast cancer. She had a 2 percent chance of having ovarian cancer by age 50. Even if she were cancer-free at that point, she could anticipate a 20 percent chance of ovarian cancer and a 40 to 60 percent chance of breast cancer by age 70.

"You look in the mirror and say, ‘I’m a genetic mutant,’" said Noy. In her professional life, Noy had tremendous access to medical expertise and information, but still felt overwhelmed by the burden of her choices and the decisions that had to be made.

Noy told of her experience as a BRCA-positive patient during a March 9 symposium entitled "Genes, Gender, and Jews: What men and women need to know about cancer prevention, detection, and treatment." The program, which drew more than 60 people on a Sunday morning at Cong. Beth Sholom in Teaneck, also included Dr. Stanley Waintraub, division chief of Breast Oncology and Hematology Services, at Hackensack University Medical Center, who spoke of the current treatments for breast cancer, and Tzippi Eckstein, a certified genetic counselor at Valley Hospital in Ridgewood, who discussed the role of BRCA1 and 2 genetic mutations.

"You can run, but you can’t hide," said Waintraub, regarding the risk of breast cancer. He told the story of a patient, a young woman from a Satmar chasidic family who, at 19 years of age, was married, pregnant, and diagnosed with breast cancer. She died at the age of 20. Despite her young age at diagnosis, her family refused testing for the BRCA genes. "The stigma of not wanting to know is very complicated," explained Waintraub. "When I told the family they should be tested, they said no. If they are [BRCA] positive, who will marry their other children?"

Waintraub, a Teaneck resident and father of six, recommends genetic testing for families with a history of early breast cancer. If the BRCA mutation is detected, options exist that can sharply reduce the risk of cancer.

Waintraub reported that one approach includes increased surveillance in families with a history of early breast cancer. "You should start mammograms five to 10 years earlier than the age of the youngest person in the family to get breast cancer," he said. The screening should alternate every six months between mammography and MRI. "MRI is a complement, not a replacement, to mammography," Waintraub said.

According to Waintraub, tamoxifen may also reduce risk of cancer. "It does cut down cancer risk, but not 100 percent — [but it does cut down the risk to] at least 45 to 50 percent," he said.

Although surveillance and tamoxifen treatment can be used to reduce risk to a certain extent, Waintraub advised that women who are BRCA positive benefit the most from surgery, specifically prophylactic mastectomy, which can reduce the risk in BRCA carriers by about 96 percent. "With this gene it’s the only thing that will work," he said.

BRCA mutations do not just increase risk for breast cancer. The mutant genes are also associated with dramatic increases of incidence in ovarian and other cancers. Some women who are BRCA positive are advised to have regular CA 125 tests, which look for cancer markers associated with ovarian cancer, and regular pelvic and ultrasound screenings. However, noted Waintraub, "none of these [approaches] increases survival. You have to remove the ovaries and fallopian tubes to reduce risk."

Waintraub reported that oral contraceptives can reduce ovarian cancer risk up to 60 percent, but at the same time they increase the risk of breast cancer. "This is not a solution," he said. "Bilateral salpingo-oophorectomy [removal of fallopian tubes and ovaries] at age 35, or after childbearing is complete, leads to 96 percent reduction [in ovarian cancer incidence]. You also lower the risk of breast cancer by removing ovaries."

Men who have the mutant BRCA genes are also exposed to increased risks of cancers, including breast cancer, prostate cancer, melanoma, and pancreatic cancer, Waintraub reported. The breast cancer rate for men in the general population is less than 1 percent, but men with a BRCA mutation have a risk as high as 7 percent. "Men who are BRCA positive have increased risk of prostate cancer," said Waintraub. "They should learn how to do breast exams, have a PSA test every year, and have a digital exam every year."

Valley Hospital’s Eckstein said she believes that "knowledge is power and hope," adding, however, that "only 5 to 10 percent of families can benefit from genetic testing." She explained that the BRCA genes are normal cellular genes whose job it is to suppress cancer. When a person has two functional genes, the environment (i.e., exposure to chemicals, etc.) can cause one of the genes to change and lose its function. Since that cell still has one functional cancer-suppressor gene, it will stay healthy. After many years, the second cancer- suppressor gene could change in the same cell, leading to one cell with two damaged genes. "This can happen in the 60s, 70s, 80s and lead to cancer," said Eckstein. "So people with normal BRCA genes can develop cancer, such as breast or prostate cancer, later in life."

Approximately one in 40 Ashkenazi Jews carries a BRCA mutation, which means that one of the two copies of cancer suppressor genes starts out damaged. "We live and are exposed [to environmental triggers] — and there’s a higher chance to have a change in the second gene and develop cancer earlier," said Eckstein. Note that since there are other genes that can keep cancer cells in check, the cancer rate in BRCA positive patients does not reach 100 percent. Eckstein reported that women who are BRCA positive can have "up to 87 percent chance of breast cancer by age 80." In addition, up to70 percent of men with the mutation will develop prostate cancer by that age.

BRCA mutations occur in the general population as well, but at a lower rate of about one in 250. The variant genes in the general population are harder to identify by genetic screening since there are many changes that can appear in such a heterogeneous group. On the other hand, in the Ashkenazi Jewish population, one in 40 people carry one of three specific BRCA mutations (two in the BRCA1 gene and another one in the BRCA2 gene). Since there are women with early onset breast cancer who do not carry one of these three variants, geneticists suspect other genes, yet to be identified, are responsible for those patients’ early cancers. The unknown genes are referred to as "BRCA X."

Knowing all this, Noy had some difficult decisions to make back in 2005.

She knew that surveillance and interval screening can catch some cancers, but breast cancer can appear in the time between screenings. "The odds were way against me that if I just did surveillance, if they find breast cancer it will [spread] to the lymph nodes 80 percent of the time," said Noy. "I didn’t like my options."

She considered the implications of surgery. "Immediate oophorectomy [removal of ovaries] without hormones would put me into menopause at 40 years old." As a physician, she understood the risks of tamoxifen treatment, including blood clots, uterine cancer, weight gain, and memory issues. Her medical oncologist was less than sympathetic and brushed off her concerns about loss of sexual functions associated with oophorectomy, although the breast surgical oncologist was sympathetic about having a completely numb breast reconstruction.

"Removal of ovaries, breasts, no hormones, tamoxifen — all are terrible options," said Noy. "I switched doctors." Noy found a new doctor in her own hospital who worked with her to develop a plan she could live with. Through a Website (www.facingourrisk.org) she found the fellowship of women going through the same concerns. She also found a team of surgeons who had developed a revolutionary new surgical approach that was more difficult to perform but promised better outcomes for the patient’s quality of life.

The new procedure, developed by C. Andrew Salzberg, included immediate breast reconstruction. "They kept the complete outside, 90 percent of the breast sensation, they did the entire breast reconstruction at the same time, and you look the same or better," said Noy.

As a patient and a doctor, Noy recognizes the tremendous challenges a BRCA positive person faces. She has expressed herself through art — winning a prize for a painting that expressed her feelings about the experience. Noy has co-edited a book, "A Stormy Path: A Woman’s Guide to Gynecologic Cancers," and has written a more personal memoir about her experiences as a patient that she hopes to publish soon.

"I went through a journey which is pretty powerful," said Noy. "There’s a fellowship — a whole community of people dealing with the issues of BRCA. Surgery is not the right thing for everyone."

One of her biggest challenges was what to tell her children. "I told my kids, ‘The way you get a vaccine to keep from getting sick, I’m going to have surgery to keep from getting sick.’"

Noy plans to live a long and healthy life thanks to her approach. "There’s hope and there’s empowerment. By doing these things you lower your risk lower than that of the general population." She added, "Your lifetime risk of breast and ovarian cancer can actually be better than the person sitting next to you who is BRCA negative."

The symposium was co-sponsored by the adult education committee, sisterhood, and men’s club of Cong. Beth Sholom, and by Sharsheret: Linking Young Jewish Women in Their Fight Against Breast Cancer. For more information about Sharsheret and its Genetics for Life program, call (866) 474-2774 or e-mail info@sharsheret.org

 FORCE, or Facing Our Risk of Cancer Empowered, is a support group for BRCA positive patients. Information on that group can be found at www.facingourrisk.org