An increasing number of Jewish women carrying a genetic mutation
for cancer are electing to have their breasts and reproductive organs
Debra Nussbaum Cohen - Staff Writer
Last month, Barbara Pfeiffer had surgery to remove both her breasts.
A year ago, she had a total hysterectomy, removing her uterus and
ovaries. The 46-year-old has never been diagnosed with cancer.
She had these healthy body parts surgically removed because she
has a strong family history of cancer and a genetic mutation making
it overwhelmingly likely that she would develop breast or ovarian
cancer in her lifetime.
She learned she has the BRCA 1 gene mutation, which is far more
common among Ashkenazi Jews than in the general population, while
her mother was dying from breast cancer that had spread.
I looked at how aggressive my moms cancer was. I thought
I cant like any body part so much that I would let it
kill me, said Pfeiffer, a marketing consultant who lives
in Hoboken, N.J. It was worth it not to go through what she
Pfeiffer is one of a growing number of Ashkenazi Jewish women who
learn that they have a mutation on the BRCA 1 or BRCA 2 genes (pronounced
bracka), and though they have never been diagnosed with
cancer, are having their breasts, ovaries and uteruses removed in
an effort to reduce their risk.
The risk of these cancers is as high as 85 percent for women with
these mutations. They are also prone to developing cancer at a younger
age, when the disease can be more aggressive. Without the mutation,
American women have a 13 percent chance of having breast cancer
in their lifetime.
BRCA gene mutations are also found in the general population, affecting
1 in 450 women. The mutation is 10 times more common in Ashkenazi
women, affecting 1 in 40.
Women carrying the BRCA defects also have a 30 percent to 50 percent
risk of developing ovarian cancer, one of the deadliest cancers,
compared to 2 percent of women without it.
While the BRCA mutations were discovered about a decade ago, and
women have been having breasts and reproductive organs removed prophylactically
for some time, awareness of genetic testing is growing, experts
say. As a result, so is the number of surgeries. And as surgical
breast reconstruction techniques improve, it makes it easier for
women to contemplate having preventive mastectomies, say some who
have made the difficult decision.
Dr. Ariela Noy, who carries the BRCA 2 mutation, had a double mastectomy
and a complete hysterectomy in back-to-back surgeries last summer,
when she was 41.
Losing her ovaries was the most difficult part emotionally, she
said. Was I still going to feel female? The issues of being
surgically put into menopause were huge, just overwhelming. I was
Fortunately, as a mother of three, she already had the family she
Unlike most women who discover they have the gene mutations, Noy,
an oncologist at Memorial Sloan Kettering Cancer Center on the Upper
East Side, had no family history of breast cancer, though she has
no female relatives besides her mother. The Nazis killed most female
relatives of the grandfather who she believes passed the trait to
her, she says. We dont know what our family histories
would have been had her relatives not been slaughtered in
Most people, if not diagnosed with cancer, pursue genetic testing
because they have multiple direct blood relatives who had breast
or ovarian cancer.
Pfeiffers maternal grandmother died of breast cancer at 36,
and her aunt at 37. Her mother died last October after battling
the disease for 15 years.
We always said we were just one of those families thats
going to get breast cancer, and I never realized there was genetic
testing available, said Pfeiffer, who is recovering from her
surgery at home after having her mastectomy and the first of two
surgeries for breast reconstruction.
She only learned about it a year and a half ago, after a new gynecologist
sent her for high-risk screening. They found that she had the BRCA-1
mutation, as did her mother.
It validated something that Id thought all along, and
almost made me feel a bit better, Pfeiffer says. Now
I felt like I have some control over it.
Pfeiffer and her husband decided not to have children long before
she learned of the mutation.
After meeting with a genetic counselor, who laid out the options
available to women with the BRCA mutations close surveillance,
with MRIs, sonograms and mammograms; surgical removal of the ovaries
and uterus; or surgical removal of them plus the breasts
she decided to take the most aggressive route.
For me, it was a matter of when Id get cancer, not
if, she said.
And while these surgeries do not eradicate a womans risk
of getting these cancers, it does reduce it by about 90 percent.
While widely considered a womans disease, breast cancer and
these genetic mutations can also affect men.
Debra Stepen, a psychotherapist in Los Angeles, had a prophylactic
mastectomy in June. She moved quickly after learning that she had
the genetic mutation. She was supposed to have the blood test done
in February, but postponed it because she was sitting shiva for
her father, who had just died of breast cancer.
She plans to have the second stage of her breast reconstruction
in September right before yontiff, she says.
This year, were catering. She expects to have
a hysterectomy at the end of the year.
Stepen, who is 51, says she feels relief that her breasts have
been removed. She describes them as ticking time bombs.
The genetic legacy of the BRCA mutations is difficult to confront.
Noys children are young her daughter is 10 and her
sons are 12 and 14. They know I had preventative surgery,
she says. I explained it to them like it was a vaccine and
they accepted that, though they knew what body parts were involved.
She is not sure when she will tell them that they may have inherited
the BRCA 2 mutation.
I dont think they have to live their childhoods knowing
about this, she said. I feel blessed that I didnt
know about this until I was 41, and had my children. Do I tell them
when theyre 25? I dont know. My children will make their
own decisions about getting tested once theyre adults,
Still, unanswered questions weigh on her.
If she has it, does it mean that my daughter should have
her children earlier than she might have otherwise? asked
Dr. Noy, referring to the fact that the incidence of these cancers
rises with age.
I hope that she doesnt feel her biological clock is
ticking faster than the average person, she said.
Stepen is Orthodox and, while many of the considerations relating
to these surgeries are common to everyone, some are specific to
being part of the religious community.
She has three adult stepchildren. But for women who have biological
children, knowing that each has a 50-50 chance of inheriting the
genetic mutation can become a heavy burden. In the Orthodox community
a family history of genetic disorders can become an obstacle to
Elsa Reich is a genetic counselor at the New York University School
of Medicine, and sees a lot of women contemplating testing for these
It has been difficult for many of my religious patients to
have genetic testing, and if they do its not uncommon for
them not to tell other members of their family, she said.
I know of several women who have been tested, and been positive
for the genes, but they dont have surgery because they dont
want outward signs that could lead to questions about why
they had their breasts removed.
Even when diagnosed with breast cancer, I know many who have
not told their families, and they frequently dont tell their
children, said Reich, citing a combination of concern about
their childrens ability to get married and not wanting to
raise the anxiety level of the whole family.
Some also consider Jewish legal issues. Rabbi Moshe Tendler, a
leading Orthodox medical ethicist, says he has been asked many
times for a religious opinion about whether it is possible
to cut out healthy tissue in these cases.
It is a difficult topic, he says. While there is a Jewish legal
imperative to protect life, it intersects here with the injunction
against harming ones own body.
No one can fault a woman for running scared and doing these
surgeries, he said. But it isnt a 100 percent
guarantee that she wont get these cancers, he noted,
and he recommends against them, preferring instead that women increase
their surveillance with non-invasive tests.
With growing knowledge of genetics these challenging issues arise
with increasing frequency, he said. Its a reaffirmation
that we are individuals dependent upon Gods grace, and that
we cannot guarantee against the angel of death. n
FacingOurRisk.org, an online network and information resource for
women with hereditary breast and ovarian cancer issues.
Sharsheret.org, a network for pre-menopausal Jewish women confronting
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