7% of 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?
The BRCA1 and BRCA2 gene mutations are detectable. It is possible
for any Ashkenazi Jewish woman 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 developing cancer.
If you think all of this sounds interesting, read on…
Section I: Could I have an increased risk of developing breast
and ovarian cancer?
Section II: What should I do if I think I maintain an elevated
Section III: I do have an increased risk of developing breast
and ovarian cancer. What now?
Could I have an increased risk of developing breast and ovarian
Who is an Ashkenazi Jew?
Ashkenazi Jews are descended from Eastern and Central
Europe and have traditionally lived in close-knit communities.
Today, there are about 10 million Ashkenazi Jews in the world;
many of these can be found in the United States . 80% of the
United States Jewish population is of Ashkenazi descent.
Why do some Ashkenazi Jews carry these gene mutations?
It is believed that these mutations can be traced back
hundreds of years to their common ancestors, or founders. As
the result of numerous intermarriages among Jews, all of today's
Ashkenazi Jews are descended from a very small group of Jews
who lived in Eastern Europe 500 years ago. These “founding Ashkenazis” carried
the particular BRCA1 and BRCA2 gene mutations which were subsequently
passed on to their descendants .
What 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.
How do I know if I am an Ashkenazi Jew?
While there is no medical test to determine if one is
of Ashkenazi descent, it is possible to trace one's family genealogy
using the internet or other family annals. The chances are that
if you are Jewish and your family emigrated from Eastern Europe
, then you are Ashkenazi.
What does being an Ashkenazi Jew mean for me?
Ashkenazi Jews carry an elevated risk of having either
the BRCA1 or BRCA2 gene mutation. The statistical data reveal
that 0.2% of the general population maintains either or both
of the mutations; however, 2.65% or 1 in 40 of Ashkenazi Jews
has one or more of the mutations. These numbers are statistically
significant enough to compel all Ashkenazi Jews
to educate themselves about the facts associated with hereditary
If I am an Ashkenazi Jew and have either the BRCA1 or BRCA2
mutation, what does that mean?
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.
Clearly, 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 on…
What should I do if I think I might have an elevated cancer
The answer is simple: Get tested to determine your
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
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.
Who performs 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 or DNAdirect.com.
How much does the test cost?
The approximate cost of the test for the Ashkenazi mutations
is $415. However, the cost of the test will be less if a specific
mutation has already been identified in a family member. 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.
If this test is so beneficial, why hasn't my doctor recommended
I 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 JACOB?!
What are 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
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,
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 you!
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.
Monthly 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 also 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
For ovarian cancer, preventive treatments usually involve oral
contraceptives. These contraceptives have been shown to cut the
cancer risk by 60% for women with BRCA mutations.
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!
I 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.
SHARE THE GIFT OF A LONGER LIFE - GET TESTED!