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 risk?

Section III: I do have an increased risk of developing breast and ovarian cancer. What now?

Section I:

Could I have an increased risk of developing breast and ovarian cancer?

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 cancer.

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.


BRCA Mutaion Increases the Risk of Cancer

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…

Section II:

What should I do if I think I might have an elevated cancer risk?

The 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.

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 it?

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 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…

Section III:

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 side effects.

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.



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