Home > Newsroom > News Archive
added 10/7/03
Ann Arbor - To a woman with a family history of breast cancer,
her body can feel like a ticking time bomb. Until recent years,
the only course of action for these women was to stay vigilant
and undergo regular mammograms.
Now genetic testing for the two major genes
known to account for a significant number of breast cancers
is becoming more and more available. And along with testing,
genetic counseling at specialized centers, such as the University
of Michigan Comprehensive Cancer Center, is offering much-needed
advice to woman at high risk of developing the disease.
“I am at risk because of my family history,”
says Mimi Joling, a 47-year-old Ashkenazi Jewish woman. “My
mother was diagnosed at age 51. She dealt with breast cancer
and other cancers for about eight years and then passed away
at age 59. My sister was diagnosed just three months ago at
age 48 and is currently undergoing treatment.”
“Clearly, breast cancer is a major health
problem in the United States, with more than 180,000 women
diagnosed each year,” says Sofia
Merajver, M.D., Ph.D., associate professor of internal
medicine at the University of Michigan Health System. “Yet,
in spite of great new treatments and major scientific efforts,
one in four of these women will go on to die from their breast
cancer. That’s why we are focusing on the genetic aspects
of breast cancer – to get at its root cause and hopefully
improve these odds,” she says.
Experts know that family history is a very important
risk factor in breast cancer – the second most important
factor after age. It is estimated that approximately 30 percent
of breast cancers are directly or indirectly caused by genes
that are inherited.
“However, it’s important to be clear
that family histories are only suggestive of the presence
of a gene in a particular family member, it does not determine
the presence of a gene,” says Merajver, who also directs
the Breast & Ovarian
Cancer Risk Evaluation Program at the U-M Comprehensive
Cancer Center.
For Mimi Joling, that’s where genetic
testing came in. “I really wanted to know more of what
my risks were and to understand, as well, what options I had
to help prevent myself from getting cancer. I also wanted
to know if I was a carrier of the mutation, which would put
my two boys at risk for having the mutation as well. So I
decided to be tested.
“ I thought for sure that I would be negative.
But then, when I found out I tested positive for the gene
mutation, I was totally shocked. I started crying, and it
was really emotional,” Joling remembers.
Merajver explains that once accurate genetic
and family history information is available to a patient,
that person has many options. “Helping patients distinguish
between the available paths in a nondirective way is one of
our major jobs, and our genetic counselors are highly trained
in this area.”
“My role is that of a patient advocate,”
says Kara Milliron, M.S., C.G.C., a certified genetic counselor
at the U-M. “Even before a high-risk patient may decide
to be tested, I look at family history and try to determine
what the potential risks are to that individual for either
having the genetic condition or passing it on.”
Some of the clues Milliron looks for to determine
if there may be an inherited susceptibility to breast or ovarian
cancer in a family are:
- High numbers of family members with cancer diagnoses throughout several generations either maternal or paternal
- Family member diagnosed with cancer before age 50
- Family members who have been diagnosed with multiple cancers (for example, breast and ovarian)
- Male breast cancers, or clusterings of other cancers such as colon, prostate, stomach or pancreatic
In all, genetic counseling sessions take about two hours
and include a great deal of education: what are genes, how
mutations or changes in genes can lead to cancer, and what
are the differences between mutations that are passed on in
families as opposed to those that may be acquired throughout
a lifetime.
Counselors also discuss the risks, benefits
and limitations of genetic testing. They may also make screening
recommendations, as well as advise patients of medicines that
may help reduce the risk of developing cancer.
At this point, Milliron understands when some
high-risk patients decide they just don’t want to know
if they carry the genetic mutation. “And that’s
okay,” she says. “The right to not know is just
as important as the right to know – and that has to
be respected.”
Another reason high-risk individuals may choose
not to undergo testing is fear of discrimination. Despite
current federal and state legislation specifically stating
that this type of medical information cannot be used to deny
a person employment or group health insurance, this is a real
worry to many, says Milliron.
“However, life and disability insurances
are not covered by these laws, so we do encourage patients
to get these forms of insurance prior to testing.” she
says.
For those who decide they do want to know, testing
for the inherited susceptibility to cancer is actually very
simple,” says Milliron. “Only about one tablespoon
of blood is needed to look for any genetic mutations. It’s
really the emotional issues that go along with the testing
– and the knowing – that make it not quite so
simple.”
But once the facts are known, genetic counselors
can provide women with a wealth of personalized information.
“It’s very important for high-risk
women, if they want this information, to consider having the
genetic testing because there are additional screening mechanisms
that can be employed, such as having a clinical breast exam
every six months instead of annually or undergoing a new procedure
called ductal lavage that screens cells from the breast ducts
for abnormal changes,” says Milliron.
Genetic information can also help women make
difficult decisions about taking ‘chemoprevention’
medicines such as Tamoxifen, which may have potentially serious
side effects, or undergoing major surgery to remove their
breasts or ovaries before a cancer diagnosis.
Joling’s results – testing positive
for the BRCA 1 mutation – put her at a greatly increased
risk of getting not only breast cancer but ovarian cancer
as well.
“After I had a few days to absorb my results
I realized this was a good thing for me to know. The counseling
provided me with information on all the options available,
and I decided my course of action was to have my ovaries removed,”
says Joling. “That has reduced my risk of ovarian cancer
by 90 percent and my risk of breast cancer by half. And I’ve
also decided to take Tamoxifen, which I’ll continue
for five years.
“Right now, I feel wonderful,” she
says. “I’m really happy with the decisions I’ve
made.”
For more information, visit the following web
sites:
U-M Comprehensive Cancer Center: Breast Cancer Disease &Treatment Information
U-M Comprehensive Cancer Center: Cancer Genetics Information Guide
Human Genome Project
www.ornl.gov/TechResources/Human_Genome/home.html
Breast Cancer Genetics Network
www.mi-cancergenetics.org
Return to top
