March 27, 2008
Jewish women change their destinies by testing for genetic mutation
Combating breast cancer -- before it hits
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Stein and Rothman provide support for each other, despite the different routes they've taken."I came to reality very quickly -- and the reality was I wanted to see my children grow up, and I didn't want cancer, and I didn't want chemotherapy. I wanted the rest of my life," Rothman said. Her daughters were 3 and 5 years old when she had surgery.
Rothman, a program director for Hadassah of Southern California, traveled to New Orleans for her breast procedure -- two surgeries and tatoooing -- at a small clinic that specializes in natural-tissue reconstruction, where a solid flap of fat is removed from the belly and inserted into the shell of the breast after tissue has been removed. The surgery offers a more natural result than silicone implants, though it is longer and more involved.
"This procedure has provided me with a new outlook on life. It has taken a huge weight off my shoulder," Rothman said. "I no longer go into mammograms thinking, 'Is this the year I'm going to get cancer like mom?'"
And she loves her new body -- she got not only a breast lift but a bonus tummy tuck, too.
Advances in reconstructive techniques mean that women have several options for maintaining a body they can feel proud of.
Decades ago, radical mastectomies removed all the tissue and muscle of the chest wall. Today, the muscle is not removed, and reconstructive surgery, usually at the time of mastectomy, can leave intact the women's natural skin, but in most cases the nipples and areola are removed. A silicone implant, or, as in Rothman's case, fat from the abdomen, fills the pocket from which breast tissue was removed. Nipples and areola are tattooed on, or some surgeons use a new technique that leaves a woman's own nipple and areola intact. Doctors try to bury scars in the fold beneath the breast, though that is not always possible.
But even the most beautifully done reconstructions leave a woman with scars and no sensation in her breasts.
"When women come to see me, my approach is to listen to them and find out where they are in life and how they relate to their own breasts," said Dr. Kristi Funk, a breast surgeon and director of patient education at Cedars' Brandman Breast Center. "Women have different feelings about sexuality and what roles breasts play, and that makes a big difference."
Funk also finds out about the woman's relationship status, and how she has been affected by a family history of cancer.
More Information, Better Treatment
Family histories can be deceptive, however. Some families don't know their medical histories, because they were lost due to the Holocaust or immigration.
The gene also can hide out in male members of a family.
A BRCA 1 gene mutation raises the risk of male breast cancer to 6 percent, and there is no increased risk for other cancers. BRCA 2 mutation also increases the risk for melanoma, prostate and pancreatic cancer. Still, men who carry the gene are likely never to get any cancer, although they have a 50 percent chance of passing the gene to children. Families with few females may never discern any cancer history.
Dora Cohen (not her real name) suspects it was her father who passed the BRCA 1 gene mutation to her. Last year, she was diagnosed with DCIS, a noninvasive cancer, which was treated with a lumpectomy and radiation. Of the many oncologists she saw, only one recommended that as an Ashkenazi woman in her 40s, she probably should have genetic testing.
In the last six months, Dora has had her ovaries, uterus and breasts removed.
Her daughter, Diane (not her real name), who is 27 and has been married for two years, doesn't want to get tested yet.
"I see what my mom is going through," Diane said. "I want to have kids, and I'm not in a place where I would take those measures [mastectomy and removal of the ovaries]. Knowing I'm positive and having that pressure on me would be something very difficult to live with."
She and her husband of two years have pushed up their plans for children, and she worries that a positive test could jeopardize her medical insurance, especially because she is self-employed.
Federal and California law provide fairly good protection against genetic discrimination from insurers, stipulating that a genetic predisposition cannot be considered a pre-existing condition. But individual policies are not as well protected as group policies.
Still, genetics experts say much of the fear is overblown. They point out that there has been little litigation involving genetic discrimination, and that the insurance industry is open to the reality that genetic testing can lead to better and more cost-effective treatment. Most insurers cover genetic testing, and some genetic counseling -- a rapidly growing field.
"The genetics community has been struggling to help people understand the importance of talking to someone who knows the nuances of genetic testing," said Heather Shappell, a genetic counselor and founder of Informed Medical Decisions, which offers over-the-phone genetic counseling.
Genetic tests do not always yield a yes-or-no answer, Shappell said, and often doctors aren't sure how to read the results and guide patients through their decisions.
In August, Aetna extended full coverage for Shappell's phone-counseling services to its 14 million policyholders.
What geneticists are looking for is an error in the sequencing of the BRCA gene.
All people carry two genes, BRCA 1 and BRCA 2, which prevent cancer by repairing damaged cells. A mutation damages the genes' repair function, which leads to uncontrolled growth and causes cells to become cancerous.
About 95 percent of Ashkenazi Jews who have the mutation have one of three errors, which means the mutation is easier to find and the test costs much less -- about $400, as compared to $3,000 for a test that analyzes the entire gene.
As researchers learn more about how BRCA mutations cause cancer, they are developing targeted treatments.
A clinical trial with sites at Cedars and City of Hope uses a drug called a PARP-inhibitor to shut down the cell's backup repair function. Normal cells are not affected, because the primary repair pathway is still functioning. But cancerous cells are left with no functioning repair system, so those cells die. Because normal cells are not affected, there are few major side effects.
"We have a promising situation where you have a treatment which is completely targeted to cancer and leaves the normal cells alone. And that is very different from treatments like chemotherapy, where there is toxicity to every cell," said Audeh of Cedars.
Another study in Israel has found that women with ovarian cancer who are BRCA positive respond better to chemotherapy and have a higher survival rate than women who are not carriers, according to Jeff Weitzel at City of Hope. Weitzel, an investigator in the PARP-inhibitor trial, is also working on a study that manipulates hormones to reduce breast density, which makes surveillance through mammography and ultrasound more effective.
In February, the Jerusalem Post reported that doctors for an Orthodox woman undergoing in vitro fertilization at Hadassah Hospital were able to identify and screen out embryos that had inherited her BRCA mutation.
'A Gift of Life'?
But while such progressive procedures have been generally well received in Israel, there is still social reluctance to test for the gene, especially in traditional circles, where families fear a genetic flaw could hurt the marriageability of their kids.
Debra Nussbaum Stepen, a Los Angeles therapist who now lives in Israel, is trying to break those perceptions. She works as a therapist at a clinic for hereditary breast and ovarian cancer, and she volunteers for Bracha, a Hebrew-language Web site for BRCA carriers.
The name of the site -- Bracha means blessing and is a play on BRCA -- connotes that knowing one's genetic makeup is a blessing that can save one's life.
It is a lesson Stepen learned personally.
Her father had several kinds of cancer, including breast cancer, and before he died at 77, Debra urged him to get genetic testing. She was 51 and had never had cancer when she found out she carried the gene.
"My doctor told me my breasts were ticking time bombs, and I couldn't go to bed at night knowing that and thinking today am I going to get cancer?" said Stepen, who has three stepchildren and a new stepgranddaughter.
She observed her father's first yahrzeit in New Orleans, where she was undergoing the third and last part of a double mastectomy and reconstruction.
"I said to my husband, in my father's death he gave me the gift of life," Stepen said.
It takes time to reach this comfort level. As Erika Taylor prepares for her surgery in a few weeks, she worries about the "gift" she may give to her son. She and her mom have talked about how irrational that guilt is.
"I can say to my mom, 'You didn't know. It's OK. It's not your fault,' she said. "But when it comes to me and my son, I think how could I have done this to my son. I am in abject horror that I might have passed this on to him. I know it's irrational, but the whole idea fills me with grief."
At the same time, she has hope.
"My grandmother died from breast cancer at 56. My mother almost died of this disease. And I'm not going to even come close to dying," Taylor said. "My hope for my son, if he has this, is that he may not have to have any medical intervention at all. Maybe they can repair this mutation. The idea that there is trajectory moving in the right direction gives me some comfort and hope."
Joi Morris will be speak about "What every Jewish Woman (and Man!) Needs to Know About Breast Cancer." at Leo Baeck Temple, 1300 N. Sepulveda Blvd., at Shabbat services Friday, March 21 at 7:30 p.m.
Web resources:
FORCE: Facing Our Risk for Cancer Empowered
Sharsheret
Cedars Sinai Brandman Breast Center
Cedars Sinai GenRISK program
City of Hope
American Cancer Society
Be Bright Pink, an organization for young women at high genetic risk for breast and ovarian cancer
Bracha, a Hebrew-language resource on the BRCA gene
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