chose what she thought was the best option, given her circumstances. And she made
her choice knowing her individual statistical odds of contracting breast cancer.
The science of genetics and the Human Genome Project have uncovered a huge amount
of information, some of which is useful to those trying to understand their own
chances of developing an illness that seems to run through their families.
odds of contracting a breast or ovarian malignancy were put at 60 to 85 percent.
This is because she tested positive for a particular mutation to the BRCA2 gene,
the same mutation that contributed to the development of her twin sister's breast
tumor. This alteration to BRCA2 is more common among Ashkenazi Jews and is known
to raise the risks of breast and/or ovarian cancers for women, and breast cancer
Gibian was brought up Catholic and didn't know until after her mother died that
her maternal grandfather was a Russian Jew. But it is these genetic flaws - some
of which have been identified by researchers, and many of which are still unknown
- that sometimes cause an amazing amount of devastation in one family. Gibian's
other sister has tested negative for this BRCA2 mutation.
A Mayo Clinic study, released in 1999, shows that prophylactic
mastectomy reduces the risk of developing breast cancer by up to 90 percent. "I
even get a cheaper rate on my life insurance since the surgery," quips Gibian.
feels she really didn't have a choice from a medical point of view. And the breast
surgeons discovered an atypical hyperplasia - sometimes a precursor of cancer
- when they biopsied tissue. "That made it a bit easier," she says.
it certainly was not easy," she continues. "It's the loss of a body part." Gibian
chose to have surgical reconstruction, which was begun at the time of her mastectomy.
She has no pain or discomfort, lifts weights, and feels that she looks good.
she have her ovaries removed, too? No, she says, or not yet. "I'm not willing
to prevent cancer at all costs," she explains. "I'm not ready to play with my
hormones and go into surgical menopause at this time, but I will consider the
procedure when I'm closer to menopause."
Gibian have any advice for women who feel that their family history places them
at increased risk for a particular cancer? "I can't make any general recommendations,"
she states. "If a positive genetic test would be too traumatic, then don't get
genetic testing. As technology improves, there will be better options for early
screening. And for some women, lumpectomy with or without radiation or chemotherapy
would be better at the time of developing cancer than having their breasts removed
to prevent the disease. "
says that she believes "knowledge gives you power. I made my choice and I have
a very good quality of life. And my younger sister can relax, because her risk
is no more than the general population.
for someone else, denial is good. If they got bad news, they might fall apart,"
who is a pediatric nurse practitioner, says that genetic counseling was an important
part of the process for her. "You get all the facts that are known today, recommendations
for screening, and support for yourself and for family members, no matter what
participated in a New Jersey Commission on Cancer Research-funded BRCA1 and 2
genetic testing program at UMDNJ-New Jersey Medical School (NJMS), aimed at gathering
information about who seeks out genetic screening and counseling services to assess
their risk of contracting familial breast and ovarian cancer, and who actually
goes forward with the testing. The study - led by Marvin Schwalb, PhD, Director
of the Center for Human and Molecular Genetics at NJMS - was conducted from 1996
through 1999, and enrolled more than 100 women for testing. Twenty-three women
tested positive for one of these gene mutations.
to Jill Baran, MS, 50 percent of individuals who come to discuss genetic screening
are self-referred and 50 percent are sent by their physicians because of their
family history of disease. "Those who are self-referred generally think their
risk is higher than it actually is," says Baran, who is a genetic counselor for
the Cancer Risk Assessment and Counseling Program of The Cancer Institute of New
Jersey (CINJ) in New Brunswick and at the Center for Human and Molecular Genetics
in Newark. Deborah Toppmeyer, MD, is the director of the program at CINJ. (See
someone is worried about their risk for genetic cancer, Baran says the key is
first meeting lasts two to three hours. I ask the person to bring all available
medical records for cancer diagnoses in the family," she says.
provides forms to send to physicians and hospitals. She says that often records
are kept for 20 to 30 years.
the records have been obtained, Baran creates a family tree noting incidences
of cancer going back three generations and determines an individual's numerical
risk based on this family history. If genetic testing is appropriate and there
are gene tests available, the counselor might offer this as an option.
flags for inherited forms of cancer are: malignancies that strike at a young age;
multiple generations with the same, or related, cancers; multiple cases of breast
and ovarian cancer on the same side of the family; more than one primary tumor,
such as tumors in both breasts, or primary tumors in both the breast and ovary;
being of Ashkenazi Jewish descent (specifically for breast, ovarian and colon
cancers); and male breast cancer in the family. There are currently 20 to 30 genes
in which mutations have been established as connected to cancer predisposition,
the most common ones being BRCA1 and BRCA2 for breast and ovarian cancers. Baran
says there are more than 900 BRCA1 and 2 mutations associated with breast and
ovarian cancers. Only three to four of these are common among Ashkenazi Jews.
There are also some rarer forms of inherited cancer, such as retinoblastoma, an
eye cancer sometimes diagnosed in children, and a form of melanoma.
new is happening on a weekly basis. The field is changing dramatically," she comments.
genetic counselor says that she clearly tells clients that genetic testing is
offered, not recommended. She feels the benefits of the testing include: better
surveillance for those who test positive; the option of prophylactic surgery,
such as Jeanne Gibian's; and the peace of mind experienced by an individual who
tests negative for a familial trait. But Baran also explains that a negative test
is considered noninformative if there is no known genetic mutation in the family,
because you can not absolutely rule out an inherited form of cancer. On the other
hand, a negative test for a known gene mutation in a family does provide reassurance
that the gene mutation has not been passed on to the individual.
also have to remember that only 5 to 10 percent of breast and colon cancers are
inherited forms, and fewer skin cancers," she says. "Mostcancers are probably
due to environmental causes or chance. If your father had skin cancer, we should
first ask some of the obvious questions. Did he work in the sun? Did he live in
Florida and spend a lot of time outdoors?"
says no one should make a decision about genetic testing right away. "You should
go home and digest the information," she says. There's a lot more at stake than
the individual's desire to know, including the potential psychological effect,
the possible insurance ramifications and the impact on the individual's family.
If the client decides to go ahead with testing, then a
small amount of blood is drawn. "DNA is what we're after," say Baran, "and there's
lots of it in a small amount of blood."
then takes two to four weeks to get results from the laboratory.
the reports come back, the genetic counselor always meets with the individual,
even if the outcome is negative. If the results are positive, the counselor will
be able to give the patient a very specific figure on the risk she has for contracting
cost to test for the four most common mutations to BRCA1 or 2 is $250 to $400.
Many insurance companies will pay part of the bill, but Baran says many patients
do not want their insurance companies involved. "There was a study done of patients
who submitted claims for genetic tests to their insurances," says the counselor.
"Although there is a theoretical risk of problems, people have not been dropped,
nor have their rates been raised."
The Genetic Privacy Act was passed in New Jersey in 1996,
and states that no one may be discriminated against in terms of employment or
insurance because of his or her genetic profile. Schwalb, who fought for its passage,
says the law prohibits insurance companies from denying health, disability and
life insurance coverage and employers from hiring or firing someone based on the
results of genetic testing. New Jersey was the eighth state in the country to
enact such legislation.
are the top three or four questions on people's minds? One is usually: What exactly
is the process if I am thinking of getting a gene test? Another is often: I believe
that I'm at high risk. Is my anxiety rational? Am I in the right ballpark with
my questions? And another is: Regardless of the outcome of genetic testing, how
will this change things medically? I already get a mammogram and a yearly exam.
of course," says Baran, "the biggest concern of women and men wanting testing
for BRCA1 and 2, even those who turn out to be unaffected, is their daughters."
Men who are carriers of a mutation in these genes can pass it on to their daughters.
has found that the majority of families who come in for genetic counseling do
not end up having testing."When people come in to talk, I am usually very reassuring,"
she says. "I might tell a woman she is at moderately increased risk for breast
cancer, but that I will make sure she gets very good clinical examinations twice
a year, and once a year by a breast surgeon. I will explain exactly what a mammogram
does. And I will make sure she knows that the majority of breast cancers are treatable.
It's a small minority that are very aggressive."
says that the toughest situation is when she has to tell an unaffected young woman
that she has tested positive for a cancer gene mutation. "Or sometimes I see someone
and there are no family survivors," she says. "Then it doesn't matter what I say.
Their own life experience does not allow the optimistic words to have meaning
women whose families have been stricken with breast and ovarian cancers, or who
are at high risk for other reasons, enrolling in a clinical trial aimed at preventing
the disease can be a very positive step, both physically and psychologically.
The most promising of these trials is called STAR, and it will yield answers concerning
which of two drugs, tamoxifen or raloxifene, is more effective at stopping these
deadly cancers in their tracks. But that will only happen if women rally to the
call and a sufficient number, in New Jersey and throughout the country, step forward