breast and 10% of ovarian cancer cases are hereditary! The most common cause of
these hereditary cancers is a mutation of the BRCA1 and BRCA2 genes. So what?
BRCA1 and BRCA2 gene mutations are detectable which will allow many women to find
out if she has inherited an elevated cancer risk. Armed with this information,
one can pursue a multitude of preventive paths aimed at reducing the chance of
If you think all of this sounds interesting,
Section I: Could I have an
increased risk of developing breast and ovarian cancer?
II: What should I do if I think I maintain an elevated risk?
III: I do have an increased risk of developing breast and ovarian cancer. What
I have an increased risk of developing breast and ovarian cancer?
are the BRCA1 and BRCA2 genes?
BRCA1 and BRCA2 are two of the 30,000
genes that we inherit from our parents. BRCA1 and BRCA2 are genes located on chromosome
17 and 13 respectively that normally produce a protein that helps to correct mistakes
in the DNA. The BRCA1 and BRCA2 mutation interferes with the genes’ normal
activity and causes one to be more susceptible to breast and ovarian cancer. Either
your mother or father can carry this BRCA mutation and pass it on to you.
What percentage of the population is born with either the BRCA1 or BRCA2
The majority of the literature on this subject has focused
on the increased BRCA1 and BRCA2 mutation risk faced by Ashkenazi
Jews. 2.65% of Ashkenazi
Jews inherit the mutation. However, they are not alone.
or one in 500 of the general population is born with either of the gene mutations.
Granted, this is an extremely small number. Nonetheless, the seriousness of the
risk associated with the mutations implores all women (especially those with a
family history of breast or ovarian cancer) to get tested for the BRCA1 and BRCA
What does it mean if I have
inherited the BRCA1 and BRCA2 gene mutations?
As has already been
stated, you maintain an increased risk of developing both breast and ovarian cancer.
Recent studies reveal that if you have a BRCA1 or BRCA2 mutation, you have a 33-50%
risk of developing breast cancer by age 50 and 56-87% by age 70. Also, those with
a BRCA mutation have a 27-44 % chance of developing ovarian cancer by age 70.
If you compare these statistics against the 13% of the general population that
will develop breast cancer, you realize how great your increased risk might be
because of your heritage.
the increased risk is great. However, genetic mutations are detectable. Thus,
you can find out if you maintain an increased risk. If you do, you can assume
a proactive and offensive stance against the disease. Such heightened awareness
will likely lead to early detection of the cancers and significantly increase
the effectiveness of the treatments.
Want to get tested? Read
What should I do if I think I might have an elevated cancer risk?
answer is simple: Get tested to determine your risk status.
What tests are available?
Presently, Myriad Genetic Laboratories®
holds the U.S. patent for BRCA testing. Their test for the gene mutation related
to an increased risk of developing breast and ovarian cancer is called BRACAnalysis®.
BRACAnalysis® involves getting a small amount of blood drawn which is then
sent to Myriad for analysis. You will find out your test results as early as three
weeks after testing.
If you are seeking testing outside of the United
States, you must contact your healthcare provider to determine how hereditary
cancer risk and testing is managed in your country.
the test? Where can I get tested?
While Myriad Genetic Laboratories
analyzes the blood, most doctors are able to draw blood and send it to Myriad.
However, it is recommended that you pursue the test through a genetic
counselor. Genetic counselors are more familiar with the tests and their implications.
If you test positive for the mutation, the counselors will be best equipped to
inform you of the implications and advise you about your next step. To find a
Cancer Genetic Specialist call the National Cancer Institute at 1-800-4-Cancer
(1-800-422-6237) or contact National Society of Genetic Counselors at NSGC.org
How much does the test cost?
cost of the test can vary depending on your ethnicity or whether a specific mutation
has already been identified in your family. Many times these costs are covered
either fully or partially by health insurance. You must call your insurance provider
to verify their policy on reimbursement for this test. Myriad Genetic Laboratories
provides a reimbursement assistance program (1-800-469-7423`) to help you obtain
preauthorization of coverage for the BRACAnalysis.
If I do pursue
genetic testing, can my health insurer or employer use the results to legally
discriminate against me?
Genetics takes us to the cutting edge of
discrimination law.Currently, Federal laws prohibit discrimination
by health insurers and employers based on genetic information. Life and disability
insurance coverage is not protected by these anti-discrimination laws. The Federal
government’s human genome project has forced Congress to directly confront
these issues. State laws vary and are always being modified. (See Resource Section
for some links to updated data.)
Myriad Genetic Laboratories® follows
the guidelines established by the 1996 Health Insurance Portability and Accountability
Act (HIPAA). This National Act ensures the protection of your privacy.
If you are still worried about discrimination, you are allowed to submit the
test under an alias in order to protect your identity. In this manner, you
can keep the test and its results off your medical records.
this test is so beneficial, why hasn’t my doctor recommended it?
asked myself this same question. The answer is that while the test is highly effective
and unquestionably worthwhile, it is relatively new. Many doctors, especially
those who treat a wide variety of illnesses, may not yet be aware of the recent
advances in genetic testing.
You must be your own advocate when it comes
to your health. Isn’t that why you came to REACH?!
the benefits of testing? It doesn’t cure cancer, so why should I do it?
As has already been discussed, the BRCA1 and BRCA2 mutations significantly
increase the risk of getting breast and ovarian cancer. So, if you know you maintain
an elevated risk, you can become more vigilant.
Get checked more often.
Catch it early. You can dramatically improve your chances of preventing cancer
before you get it. Other options for those who test positive will be discussed
in Section III!
Now that I know who should get tested
and what the test entails, I want to know what effects the results will have on
my life. The answer to this question is largely up to you; however, to learn more
about the different possibilities, read on…
I do have an increased risk of developing breast and ovarian
cancer. What now?
I have met many people that say they do not want
to be tested for the gene mutations. They say, “The test is not a cure.
There is nothing that can be done. I would rather not know and if cancer is my
fate, then so be it.”
It is okay to be afraid of the unknown, but
one shouldn’t run from it. We owe it to ourselves and loved ones to face
our risk. Just imagine how powerful you will be with the acquired knowledge of
any genetic mutations in your BRCA 1 or BRCA 2 genes.
I have tested positive and am now prepared to face the risk.
Is a major or minor lifestyle change in store for me?
It is up to
The first and most important step in protecting yourself is increased
surveillance for the cancers. While there is no guarantee that increased surveillance
will detect cancer, it is an important step towards early detection.
breast self-exams should commence between ages 18-21. Annual or semi-annual clinical
breast exams would begin between the ages of 25-35 and annual mammograms would
begin between the ages of 25-35. Some physicians
guide women to start mammography at an age that is 10 years younger than the youngest
age that a family member was diagnosed with breast cancer. In addition, MRI (Magnetic
Resonance Imaging) is being used to screen for breast cancer in women with a familial
or genetic predisposition.
For ovarian cancer, screening
involves an annual or semi-annual transvaginal ultrasound (TVU) between the ages
of 25-35 and an annual or semi-annual check-up on serum CA-125 levels. This screening
becomes more important after age 40 when the risk of ovarian cancer increases.
Since ovarian cancer is difficult to detect even with early screening, there are
other options available to you which are discussed later.
The above recommendations
are minor lifestyle changes. Depending on how concerned you are, there are more
aggressive measures that would have a greater impact on your lifestyle.
You can pursue preventive drug treatments. For breast cancer, the drug, Tamoxifen,
has been shown in some studies to lower the risk of breast cancer associated with
BRCA 2 gene alterations by more than 60%. The potential benefits of any preventive
drug treatment should be considered in conjunction with the potential side effects.
ovarian cancer, preventive treatments usually involve oral contraceptives. These
contraceptives have been shown to cut the cancer risk by 60% for women with BRCA
There are also surgical options available
which reduce your risk even further. For breast cancer, you can undergo a prophylactic
bilateral mastectomy. This procedure, in which both breasts are surgically removed,
has been shown to reduce the breast cancer risk in women with a BRCA mutation
by greater than 90 percent. Such mastectomy procedures can be done with a skin
sparing technique with immediate reconstruction.
For ovarian cancer, you
can undergo a prophylactic bilateral oophorectomy or a full hysterectomy. A bilateral
oophorectomy is a procedure in which both ovaries are surgically removed and has
been shown to reduce the cancer risk between 85-96% in women with a BRCA mutation.
This procedure is generally recommended after 35 years of age or after childbearing
is completed. Oopherectomy has the additional advantage of reducing
the risk of breast cancer in a pre-menopausal woman. There is also data that shows
patients with the BRCA genetic mutation are at risk for fallopian tube cancer.
Since a portion of the fallopian tube is inside the uterus, a hysterectomy should
be considered to significantly reduce the risk of cancer.
How you manage
the risk is totally up to you! However, it is better to face it informed!
have tested positive and am now concerned about whether I have passed on the gene
mutation to my children. Did I?
Research suggests that if you carry
the mutation, then your children have a 50% chance of inheriting it. Be aware
that either women or men can carry the BRCA genetic mutation.
So, if you
test positive, it is definitely important to alert your family members about their
increased risk and urge them to be tested.
THE GIFT OF A LONGER LIFE - GET TESTED!