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Katherine
Griffin. BLOOD TIES & BREAST CANCER Copyright
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Source: Good Housekeeping, Oct2001, Vol. 233 Issue
4, p158, 8p, 4c.
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DOES THIS DEADLY
DISEASE RUN IN YOUR FAMILY? NOW, EVEN HIGH-RISK WOMEN HAVE
NEW REASON TO HOPE. HERE, THE BREAKTHROUGHS THAT COULD SAVE
YOUR LIFE... OR YOUR DAUGHTER'S.
WHEN TAMI AGASSI FOUND
THE LUMP THAT would change her life, she didn't panic. At
30, Tami, an older sister of tennis star Andre Agassi, was
an athletic woman whose family had no history of breast
cancer. Her mother, Elizabeth, was a vigorous 63, and her
sister, Rita, was perfectly healthy at 40. So when Tami
encountered an irregularity while doing a routine breast
self-examination in January of last year, she thought,
That's odd; there's this little bump.
When a mammogram and
ultrasound proved inconclusive, Tami consulted a specialist
who performed a biopsy. Four days later, sitting at her desk
at work, she phoned the doctor's office for the results--and
heard the words every woman fears: The lump was cancerous.
"I'd never had such traumatic news," she says. "I broke
down, went home, and cried myself to sleep."
In an instant, it seemed,
Tami had gone from being a successful Seattle Internet
executive to being a breast cancer patient with a tough road
ahead. In the months that followed, she underwent a
mastectomy on her cancerous left breast and, as a preventive
measure, had her healthy breast removed too. She endured
months of grueling chemotherapy (nine in all) and began a
series of operations to reconstruct both breasts.
Through it all, the
Agassi family rallied around Tami. Her parents kept vigil
during her long days in the hospital, and when her hair
started to fall out during chemotherapy, Andre and her other
brother, Phil, helped her shave her head. To show
solidarity, they surprised Tami by shaving their own heads.
("It was wonderful!" she laughs.)
But there was more bad
news to come. Just six months after Tami's diagnosis,
Elizabeth Agassi learned that she, too, had breast cancer
and would have to undergo a mastectomy.
The family rallied again.
Andre flew home to Las Vegas while his mother was still in
the hospital; soon after he withdrew from the U.S. Olympic
tennis team. Tami, though weakened by chemo, also went home
and managed to sit by her mother's bedside to offer
comfort.
"Everybody was concerned
about how Mom's illness would affect me," says Tami. "But I
knew that because we'd caught her cancer early, her chances
of survival were extremely high." As it turned out,
Elizabeth did not undergo chemotherapy. And like Tami--who
finished her treatment last December--she has received an
excellent prognosis. Still, the double diagnoses set off
alarms for other members of the Agassi family. Tami's
sister, Rita, went for a mammogram, as did Elizabeth's two
grown nieces. One of them has a suspicious lump that is
being closely monitored.
As the Agassis and other
women like them know, having breast cancer invade your
family is like having a storm cloud blot out the sun. The
landscape of your life looks completely different as you try
to understand your own risk and become more vigilant about
checking your body.
And yet, the news is not
all grim for high-risk women. Knowledge about breast cancer
is expanding as never before. Fifty years ago, when a woman
developed the disease, her family might never have spoken
its name. It was hidden in the shadows, and it was often
deadly. Things are different now.
Today, a test can
determine if a woman has a genetic predisposition to breast
cancer. If so, medication may be prescribed to reduce her
risk. Doctors can more confidently tell a woman whether a
particular therapy is likely to help her. Researchers are
testing techniques designed to detect cancer earlier than
ever. And most promising, scientists studying the genetics
of breast cancer say this research may ultimately provide
crucial clues to understanding how the disease
develops.
"We have learned a
tremendous amount in the last five years," says Lynn C.
Hartmann, M.D., an oncologist at the Mayo Clinic, in
Rochester, Minnesota. "I wish I could say that we have
something like aspirin that is ninety percent effective at
preventing breast cancer. We're not there yet, but we've
made progress on numerous fronts."
PROBING THE FAMILY
TREE
There is still no
one-size-fits-all formula that can gauge breast cancer risk
for all women. But oncologist Larry Norton, M.D., of
Memorial Sloan-Kettering Cancer Center, in New York City,
has some pointed advice for any woman who has even a vague
recollection that some relatives may have had the disease.
"Know your family history," he says. "What did Aunt Mabel
die of? Find out. Delve deeply."
Armed with this
information, a woman who thinks she's at high risk can
consult a genetic counselor, who is trained to sort through
family patterns and put individual risk into perspective
(see "Who's at Risk for Breast Cancer?" page 176). Many
women actually wind up with their fears put to rest. "About
ninety percent of those with a family history don't fall
into the high-risk category," says Wylie Burke, M.D., Ph.D.,
a geneticist at the University of Washington, in
Seattle.
A woman who believes
she's at risk has another option her grandmother couldn't
have imagined: genetic screening. A blood sample may
determine if she carries a mutation on the BRCA1 or BRCA2
genes; if so, she has a 50 to 85 percent chance of
developing breast cancer. Her vulnerability to this disease
is also believed to raise her risk for ovarian cancer. In
fact, a BRCA1 mutation can increase her risk for ovarian
cancer by up to 60 percent. (A BRCA2 mutation raises ovarian
cancer risk as well, but not by as much.) And in a cruel
twist of fate, having a family history of ovarian cancer may
also make a woman highly susceptible to breast
cancer.
Though the genetic test
can help a woman make difficult decisions, it doesn't always
provide clear-cut answers. About half of women with a strong
family history of breast or ovarian cancer test negative for
mutations--which is why researchers suspect that there may
be other genes involved that haven't yet been identified
(see "Should Your Genes Be Screened?" page 182).
PREVENTIVE
TACTICS
A woman at high risk for
breast cancer has three options for staying healthy. The
most basic is frequent monitoring--including breast
self-examination, clinical breast exams, and mammography. A
more aggressive approach is drug therapy. Finally, and most
dramatically, she can have a preventive, or prophylactic,
mastectomy--the removal of her healthy breasts.
Frequent screenings make
sense: The earlier a cancer is detected, the sooner
potentially lifesaving treatment can begin. Still, tumors
can be overlooked, and even a small one can be very
aggressive (see "Screening for High-Risk Women," page 176).
Tamoxifen, the first-ever drug shown to inhibit breast
cancer, is a powerful new addition to the prevention
arsenal. In 1998, a landmark trial showed that women at
increased risk for breast cancer who took tamoxifen for five
years cut their chances of developing the disease in half.
Estrogen is thought to cause breast cancer by encouraging
breast cells to proliferate. Tamoxifen hooks onto estrogen
receptors in the breasts, in effect, blocking the
hormone.
But tamoxifen isn't
risk-free. In the trial, three of every 1,000 women over age
50 who took the drug developed endometrial cancer. And two
of every 1,000 developed blood clots in their legs or lungs.
(Those numbers were slightly higher than the numbers for
women in the study who didn't take the drug.) What's more,
preliminary findings presented this past spring by
geneticist Mary-Claire King, Ph.D., of the University of
Washington--who discovered the breast cancer genes--suggest
that tamoxifen may not be as effective in women who carry a
BRCA1 mutation.
"The tamoxifen story is
unfinished," says Dr. Burke. "We don't know at what age the
drug will give you the best protective value, and we don't
know for how long a woman should take it." More research,
she says, will determine whether tamoxifen truly prevents
cancer or simply delays its arrival.
By far the most drastic
measure a woman at high risk can take is to have her healthy
breasts removed. That's what Laura Fox of New York City did
three years ago--when she was all of 21. Breast cancer was
wiping out her family generation by generation: Though
breast cancer is rare in men, her maternal grandfather died
of it in his 60s; her mother died of it at 42; her mother's
sister, at 38. When Fox learned she carried a mutation on
the BRCA2 gene, her decision was swift. Sacrificing her
breasts, she believes, was necessary to save her life.
"Though my surgery sets me apart from others my age, I am
happier," she says. And, she adds, once she has children,
she will have both her ovaries removed as well.
Although many doctors
would rather not perform prophylactic mastectomies, they are
effective. In 1999, a 15-year study of 600 high-risk women
led by the Mayo Clinic's Dr. Hartmann found that the surgery
cut breast cancer risk by 90 percent (see "A Lifesaving--but
Controversial--Surgery," page 180). This past July, Dutch
researchers reported in The New England Journal of Medicine
that they had followed 139 high-risk women for three years
and found that none of the women who had their healthy
breasts removed developed cancer. Many also had had their
ovaries removed-which earlier studies have found may
significantly lower the risk of breast and ovarian cancer in
carriers of the BRCA1 or 2 mutations.
WHAT THE FUTURE
HOLDS
Today, Tami Agassi has a
new job as director of the Marsha Rivkin Center for Ovarian
Cancer Research at Swedish Hospital, in Seattle. She's
playing tennis just as she used to and has organized a
breast cancer fundraiser (see "Helping Others," page 182).
Facing a life-threatening illness at a young age--and
watching her mother battle it--has changed her. "I have far
more strength than I gave myself credit for," she says.
"Cancer didn't kill my spirit."
Laura Fox also seems wise
beyond her years. She and her relatives have given samples
of their blood to researchers at the University of
Pennsylvania in the hopes that they can learn why her family
has been cursed with this disease and, in the process, find
better ways to prevent it.
Physicians who spend time
with high-risk women like Agassi and Fox are impressed with
their courage. "I don't know that I have ever met more
motivated patients," says Dr. Hartmann. "These women are
very willing to move the field forward, to help the next
generation."
As a result, experts are
optimistic that high-risk women will one day have better
choices. For example, researchers studying
raloxifene-prescribed to prevent and treat
osteoporosis--have found that, like tamoxifen, it prevents
estrogen from stimulating breast cells, but without raising
the risk of endometrial cancer. A study comparing the two
drugs in 22,000 high-risk women should provide answers
within a few years. (Researchers are still recruiting
postmenopausal women for the study; to find out if you're
eligible, call the National Cancer Institute at
800-422-6237.)
In addition, scientists
are testing tools that might detect suspicious changes in
the breast early on. Los Angeles breast surgeon Susan Love,
M.D., has developed a procedure for examining cells from the
milk ducts, where most cancers begin. In one study, the
procedure--ductal lavage--discovered abnormal cells in 24
percent of high-risk women who had been told their
mammograms were normal. (To find a center offering the
procedure, visit www.susanlovemd.com.)
Elsewhere, researchers
are looking at new ways to use magnetic resonance imaging
(MRI). Young women at high risk need regular mammograms, but
their denser breast tissue makes the images difficult to
interpret. An MRI may provide a clearer picture. And more
studies are needed on how hormone medications might affect
cancer risk. Doctors usually advise women with a personal
history or strong family history of breast cancer not to
take hormone replacement therapy. Recently, longstanding
assumptions about the birth control pill--that it protects
against ovarian cancer and doesn't significantly affect
breast cancer risk--have been challenged. Last October,
Minnesota researchers found that women who took a
higher-dose oral contraceptive (prescribed before 1975) and
had a first-degree relative with breast cancer were at
increased risk for the disease. (It's not known yet whether
today's lower-dose pills might also raise risk.) And in
July, Israeli researchers reported that the Pill may not
lower the risk of ovarian cancer in carriers of the BRCA1 or
2 mutations.
Definitive answers won't
be found overnight. "Hope comes in stages," Dr. Hartmann
cautions. But for women like Tami and Elizabeth Agassi, who
worry about other family members, and Laura Fox, who wonders
whether a stray cell left behind after surgery will bring
her face-to-face with her deadly family legacy, hope is what
it's all about. Says Fox, "I hope there will be a cure for
breast cancer before my children are old enough to worry
about it."
surviving for her
kids
As Liz Gamelin approached
the milestone age of 40, she had more than the usual midlife
fears. For Gamelin, a nurse in Naperville, Illinois, turning
40 meant entering the decade in which her mother had
developed breast cancer. Gamelin's mother was 47 when the
disease was diagnosed; she died of it at 54, when Gamelin
was 22.
"I had tremendous
anxiety," says Gamelin, who has three girls and a boy,
ranging in age from seven to 15. "I didn't want to die the
way my mother did. I've got to be here for my
kids."
So Gamelin saw a genetic
counselor at the University of Chicago to learn about her
risk. After a thorough assessment of her family history--her
maternal aunt and two cousins developed breast or ovarian
cancer when they were young--she discovered she was
extremely vulnerable. She chose not to take the genetic test
because doctors told her that even if she tested negative,
they would still consider her at high risk. "I felt like a
time bomb," she says.
And so, after careful
consideration, Gamelin decided to have her ovaries and
breasts removed. Her husband, she says, "was the first
person in my life who said, 'it's a no-brainer.'"
Gamelin had her surgeries
during the spring of 2000. When she recovered, she had her
breasts reconstructed, which required two more operations
over several months. But Gamelin, now 41, has no regrets.
"Honestly, it's as if the weight of the world has been
lifted off my shoulders," she says. "I wouldn't have
predicted that I'd feel as good as I do."
trying to
understand
Anne Murphy was on the
threshold of womanhood when she began to understand that, in
her family, being a woman is dangerous. Murphy was 15 when
she lost her mother, who was 54, and one of her mother's
sisters, who was 44, to breast cancer. Another of her
mother's sisters was diagnosed with the disease that same
year, but survived. So all through Murphy's busy,
accomplished adult life--as she was getting married,
becoming a pediatric cardiologist at Johns Hopkins School of
Medicine, in Baltimore, and raising a daughter (now 16)part
of her was dreading the moment when she would learn that
breast cancer had taken root in her own body.
That moment came in 1995,
when, at 40, cancer was diagnosed in her left breast. Her
first thought was How will I tell my two sisters? Murphy had
a mastectomy and proceeded through treatment, learning of
four cousins who also had breast cancer.
Meanwhile, one sister
consulted a genetic counselor, who suggested that because
Murphy had cancer, she should get the gene test first.
Murphy agreed but tested negative. And as researchers study
her family for an as-yet-unknown genetic cause, Murphy's
sisters, nieces, and cousins are screened regularly in the
hopes that if they develop cancer, it will be found
early.
"The whole experience has
been incredibly difficult and sad," says Murphy, who is
healthy now, after three years on tamoxifen. (She has also
had her healthy breast and ovaries removed.) "When something
like this happens," she adds, "you just want to
understand."
who's at risk for breast
cancer?
Of the 192,000 cases of
breast cancer diagnosed in the United States each year, more
than 80 percent occur in women with no family history. There
is no typical age at which breast cancer occurs, though the
older a woman is, the greater her risk. Very rarely does
breast cancer strike a woman under age 30. And though it may
seem that more women in their 30s are developing the
disease, the rate of breast cancer in this age group hasn't
changed. Rather, this population has exploded, which means
that "there are more women who can develop breast cancer,"
says epidemiologist Robert Smith, Ph.D., director of
screening at the American Cancer Society. Here, a guide to
breast cancer risk:
A woman who has no
relatives with the disease has a 13 percent chance of
developing breast cancer over a lifetime--the famous "one in
eight" statistic.
A woman who has one
first-degree relative--a mother, daughter, or sister--who
was diagnosed with the disease after menopause has a
lifetime risk of perhaps 17 percent, only somewhat above
average, explains Smith.
A woman who has at least
two first-degree relatives in different generations (they
can come from either side of the family) who were diagnosed
with breast or ovarian cancer is considered at high risk.
More red flags go up if both breasts were affected, or if
cancer was diagnosed before menopause.
screening for high-risk
women
The rule of thumb is that
any woman with a family history of breast cancer should
start screening ten years before the age at which the
disease was diagnosed in her relative; breast self-exams
should start even sooner. Breast cancer is often virulent in
women under 35-for reasons that are unclear-making early
detection even more vital. Below, specific guidelines for
high-risk women-though every woman should discuss her
particular screening needs with her physician.
Starting at age 18, do a
breast self-exam every month, advises the Cancer Genetics
Study Consortium, an expert group convened by the National
Institutes of Health. (Breast cancer has occurred in
high-risk women as early as age 19, though this is extremely
rare.)
Starting between ages 25
and 35, have a doctor examine your breasts every six to 12
months and get an annual mammogram.
Starting between ages 25
and 35, get screened for ovarian cancer once or twice per
year if you carry the BRCA1 mutation. (A BRCA2 carrier may
also want to do this.) Screening includes the CA-125 blood
test, which measures levels of a protein shed by ovarian
tumors, and a transvaginal ultrasound, to search for
growths.
honoring a
promise
For most of Darlin
McRoyal's childhood, her mother, Lil, suffered mysterious
illnesses that left her unable to care for her children.
McRoyal spent several years living in Los Angeles-area
children's homes. When she was 14, Lil's condition
stabilized enough that McRoyal was able to live with her
again. But not for long. "When my mother was around
forty-seven, her belly started to swell," McRoyal says. "The
doctor thought she was pregnant." She wasn't; the cause of
the swelling was ovarian cancer.
For the next two and a
half years, McRoyal looked after her mother, even spending a
month with her at a clinic in Mexico that dispensed the
controversial cancer treatment laetrile. But when McRoyal
was 17, Lil died.
Now 47, McRoyal is a
mortgage company executive living in Santa Clarita,
California, married, and the mother of a seven-year-old son.
Since her mother's death, she has watched several of Lil's
relatives battle breast or ovarian cancer, or
both.
It was a cousin--who had
breast cancer at 30 and died of ovarian cancer at 56--who
was the first in the family to have the genetic test. She
tested positive. "I promised her that I'd get the rest of
the family to take it," McRoyal says.
Last year, McRoyal
learned that she carries a mutation on the BRCA1 gene, which
puts her at high risk for both breast and ovarian cancer.
Now that she knows, she's doing everything she can to avoid
her mother's fate. She has had her ovaries removed and is
screened for ovarian cancer every six months. She also has
regular mammograms and clinical breast exams, and is taking
tamoxifen in the hopes of preventing breast cancer--though
she was dismayed to learn this spring that it may be less
effective for carriers of a BRCA1 mutation. Because of this,
she has begun to think seriously about having a prophylactic
mastectomy. Though the results of the genetic test were not
what she'd hoped for, she is relieved. "When you have this
history, you're always wondering when your turn will come,"
McRoyal says. "For me, it was more stressful not
knowing."
a lifesaving--but
controversial-surgery
Having perfectly healthy
breasts removed in order to reduce the chances of developing
breast cancer sounds barbaric. But that's what an estimated
one in 29 high-risk women do-partly because of findings that
a preventive, or prophylactic, mastectomy can cut breast
cancer risk by 90 percent.
Still, not all doctors
agree this is the best way to go. According to Larry Norton,
M.D., an oncologist at Memorial Sloan-Kettering Cancer
Center, in New York City, and president-elect of the
American Society for Clinical Oncology, "surgery works, but
it's not a very attractive option. It's mutilating." His
first choice for a high-risk woman is "careful
surveillance." In certain circumstances, however, surgery
may be warranted, he acknowledges; for example, if a woman
is having difficulty living with the knowledge that she is
at high risk, or if her breasts are too dense to
examine.
Prophylactic mastectomy
is "radical surgery," says Henry Kuerer, M.D., Ph.D.,
director of the Breast Surgical Oncology Training Program at
the M.D. Anderson Cancer Center, in Houston. A woman can
develop an infection; she may need multiple reconstructive
surgeries; and she will lose sensation in her nipples and
chest. Nor is the procedure foolproof. "Even if I remove
both breasts, there's a small chance a woman will still
develop breast cancer in any microscopic cells that remain,"
Dr. Kuerer says.
Despite the risks,
doctors need to put aside their personal feelings about the
procedure and listen to their patients, maintains Carolyn
Kaelin, M.D., director of the Comprehensive Breast Health
Center at Brigham and Women's Hospital, in Boston. Each
woman who comes to a center such as hers, she says, has a
story to tell: "These women are incredibly brave, and they
are, for the most part, able to face reality."
Indeed, women who decide
to have a prophylactic mastectomy "are a whole different
group from women who have breast cancer," agrees Dr. Kuerer,
who is also an assistant professor of surgery. "They have
vivid memories of a grandmother dying or a sister undergoing
surgery and toxic chemotherapy. Most really want to change
the course of history." And though he counsels these women
about nonsurgical options and the risks of the procedure,
"by the time a patient comes to my office, I almost never
can convince her not to have the surgery," he
says.
Breast cancer survivor
Tami Agassi knows what he means. Nearly two years after
having her healthy breast removed, she says: "When you're
dealing with your life versus your breast, there's no
question. I wanted to live. My breast wasn't that
important." She isn't alone in feeling this way. Last year,
researchers at the Mayo Clinic reported that of 600 women
questioned an average of 14 years after their surgeries, 70
percent were satisfied with their decision.
should your genes be
screened?
A woman who fears that
she may develop breast or ovarian cancer can now take a
blood test to learn whether she carries a mutation on the
BRCA1 or BRCA2 genes. But the test isn't for
everyone.
The American Society for
Clinical Oncology (ASCO) says that screening is most
beneficial for women who have a strong family history of
breast or ovarian cancer, or who had their cancer diagnosed
at an early age. ASCO also advises testing only when an
expert "can talk through the results with you and tell you
what they mean," says Larry Norton, M.D., president-elect of
ASCO. Finally, women need to consider whether they would
make different decisions based on the outcome of the test.
"If it isn't going to change anything, why have it?." asks
Shelly Cummings, a genetic counselor at the Cancer Risk
Clinic at the University of Chicago.
Experts often suggest
that a family member who already has cancer be tested first.
If a mutation is found, other relatives can then be checked
for the same pattern.
The simplest test, which
checks for a single known mutation on one gene, costs about
$350. A more complex test, which scans both genes for all
known mutations, costs $2,650. Increasingly, genetic tests
are being covered by insurers. And experts say that women
with positive results are not being discriminated against by
health insurers or employers thus far.
helping others
With her own battle
behind her, Tami Agassi is helping others. She is honorary
chair of the Schick Xtreme III Tennis Challenge, to be held
in Seattle on October 7 to benefit the Breast Care and
Cancer Research Center at the University of Washington. Her
brother Andre will play, as will tennis pros Pete Sampras,
Jonathan Stark (whose mother has breast cancer), and
others.
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