Cancer is caused by changes called “mutations” in the body’s blueprint called “genes.” Over the course of a lifetime and due to many factors, changes can occur to genes.  The body has ways to fix the changes that happen but sometimes over time there are too many changes to repair. In some cases, these changes can lead to cancer.

Most cases of cancer, (including breast cancer) about 90%, result from changes that occur to genes in cells over the course of a lifetime.  We know some of the things that can cause damage to genes, leading to breast cancer, but we don’t know all the causes of breast cancer. For most people with breast cancer, we don’t know the specific reason why they developed cancer. 

Another 10% of  cancer is associated with specific gene changes that are inherited from either parent.  These hereditary gene mutations increase the lifetime risk for certain cancers.  In the case of breast cancer, researchers have identified two genes, called BRCA1 and  BRCA2, which can be associated with breast and ovarian cancer  in women. Mutations in these genes can be passed from generation to generation and can run within families. These two genes may be responsible for many cases of cancer within a family. There are other gene mutations that may be associated with hereditary cancers including breast cancer. In some cases a test (blood or cheek swab) can tell if there are gene changes which can lead to cancer.  However, cancer and genetics is a rapidly changing area of medicine.  Before taking a test to see if your cancer was caused by a hereditary gene change, or to see if you are at high risk for cancer, you should first consult with an expert called a genetic counselor.

Genetics experts are health care providers who have had advanced training in genetics and hereditary diseases.  They can evaluate a family’s medical history and determine if the cancer in that family is likely to be due to a gene mutation. They can also determine if there is a test available to explain the cancer in the family, assure that the correct test is ordered, and assure that the results are accurately interpreted.  To make sure that you and your family are receiving the most up-to-date information about genetics and cancer in your family, it is important to consult with a genetics expert.  The FORCE website can assist with finding a genetics expert .

Women who test positive for a BRCA mutation have a very high lifetime risk for breast cancer and for ovarian cancer. Additionally, women with a BRCA mutation have risk for cancer at a younger age than most women (sometimes as young as their 20s). They may also be at risk for more than one cancer diagnosis (for instance they may develop cancer in both breasts or they may develop both breast and ovarian cancer). There is a slightly increased risk for certain other cancers. There are options available to women with a mutation to help lower their risk for these cancers, or to catch cancer at an early, more treatable stage. 

Women who test negative for a BRCA or other hereditary mutation are still at risk for breast cancer.  The actual risk varies depending on their age, family history of cancer and other factors.

For women who have been diagnosed with breast cancer, knowing your BRCA status can help you make treatment decisions, and may affect how you manage your future risk for breast cancer or ovarian cancer.  It can also help your family better understand their risk for cancer so they can make decisions to help detect cancer early or to lower their risk for cancer.

For women who have not been diagnosed with cancer but whose family history suggests a possible BRCA mutation, knowing your BRCA status can help you make decisions about managing your future risk for cancer. 

Both men and women can carry a BRCA mutation.  For men who test positive for a BRCA mutation, they may have an increased risk for male breast cancer, and for other cancers.  Additionally, men can pass the gene mutation on to their children.  For men who are concerned that cancer may run in the family, it is important to meet with a genetics expert to discuss your risk for cancer and determine if BRCA testing is right for you.

Signs that your breast cancer or the breast cancer in your family may be hereditary:

If you answer “yes” to any of the following you should consider an appointment with an expert in cancer genetics:

1.Have you or a close relative (mother, sister, daughter, grandmother, aunt, or cousin) on either side of your family been diagnosed with breast cancer before age 50?
2.Have you or a close relative (mother, sister, daughter, grandmother, aunt, or cousin) been diagnosed with ovarian or fallopian tube cancer at any age?
3.Have you or a close relative been diagnosed with breast cancer in both breasts, or two separate breast cancer occurrences?
4.Do you have any male relatives with breast cancer?
5.Do you have two or more relatives on the same side of the family with any of the following: breast, ovarian, fallopian tube, or pancreatic cancer?

Note: other cancers may also be hereditary.  If you have other types of cancer in your family, please speak with a genetics expert to determine if genetic counseling and testing would benefit you or your family.


Frequently Asked Questions about BRCA1 and BRCA2 Genes and Genetic Testing:

Q. I keep hearing the name, “breast cancer genes.”  What does that mean?

A. About 5-10% of breast cancers are caused by changes (called mutations) in certain genes that a person inherits from her/his mother or father.  Scientists named the genes that can be linked to these inherited cancers BRCA1 and BRCA2 (for breast cancer gene 1 and breast cancer gene 2). Calling BRCA “breast cancer genes” is a bit of a misnomer for several reasons:
Everyone has two copies of each of these genes, but in some people the genes don’t work properly. They are only linked to cancer when they are not working properly (when there is a mutation in the gene).
BRCA 1 and BRCA 2 are not the only genes linked to breast cancer. Changes in other genes can also increase the risk for breast cancer although the actual increase in risk is usually not as high as for someone with a BRCA mutation.
Both BRCA1 and BRCA2 can be linked to increased risk for other types of cancers like ovarian cancer and fallopian tube cancer.

Q. My doctor recommended that I have genetic testing.  How can I go about getting the test?

A. Before taking a genetic test for hereditary cancer, it is recommended that you speak with an expert who specializes in cancer genetics.  They will look at your family medical history and assure that the proper test is ordered and interpreted correctly.  Sometimes genetic testing is more informative if someone else in the family tests first before you.  A genetic counselor will be able to determine the best person in your family to have testing. They will make risk-management recommendations based on your personal cancer risk and/or genetic test results. 

Q. I’m not sure that I want to have genetic testing, but I do want to understand more about the cancer in my family.  Do I still need to see a genetic counselor?

A. It is difficult to make an informed decision about genetic testing unless you receive up-to-date and credible information from an expert.  Cancer genetics is a rapidly evolving area of medicine with new information being discovered daily.  It is important to request a referral to a health care provider who has specific training in cancer genetics.  A qualified genetic counselor will take a nondirective approach to genetic testing.  They will not try to talk you into or out of genetic testing but will look at your family history and educate you about your cancer risk and your risk-management options regardless of whether or not you decide to undergo genetic testing.  Once you understand your cancer risk and management options, the decision to undergo genetic testing is up to you.

Q. I already had breast cancer.  What additional information would genetic testing tell me?

A. In newly diagnosed breast cancer patients or patients who are still undergoing treatment for breast cancer, genetic test results may affect surgery and treatment decisions.  In women who have been previously treated for breast cancer and are not currently in treatment, genetic testing may affect options for managing additional cancer risk, including risk for a second breast cancer diagnosis in any remaining breast tissue, as well as risk for ovarian cancer.  Additionally, your genetic test results may help your relatives make decisions about their own risk for cancer.

Q. I don’t want to have preventive surgery.  Should I still have genetic testing?

A. There are nonsurgical as well as surgical options for women with a BRCA mutation to manage their risk for cancer or detect cancer early. Even if you decide you do not want preventive surgery, your genetic counselor will present options available for managing your cancer risk. 

Q. I am worried that I might face consequences with my insurance company or employer if I have genetic testing.  What should I do?

A. There are both state and federal laws that prohibit health insurance companies from denying you insurance or changing your premiums or benefits based on genetic information. These laws apply to both group insurance and individual health insurance plans.  There are also federal and state laws which prohibit most employers from discriminating against employees based on genetic information.  The laws do not apply to life insurance or disability insurance.

Q.   Where can I go for more support and information or to speak with other people facing hereditary cancer?

A. Facing Our Risk of Cancer Empowered (FORCE) is a national nonprofit organization devoted to improving the lives of individuals and families affected by hereditary breast and ovarian cancer.  The FORCE website at: http://www.facingourrisk.org and the FORCE organization have free resources and support for people with or concerned about hereditary cancer.

Q. I had genetic testing and received my results.  Now what?

A. Your genetic counselor can help you understand what your test results mean in terms of cancer risk for you and your relatives.  They will explain the options available to you for managing your cancer risk.  If you have not consulted with a qualified health care provider with expertise in cancer genetics, such as a genetic counselor or geneticist, you can request a referral from your doctor.  Visit the FORCE website to locate a genetics expert in your area http://www.facingourrisk.org/finding_health_care/finding_specialists.html#genetics.

Q. Is the test expensive?  Will my insurance pay for testing?

A. The cost and interpretation of a BRCA genetic test depends on several factors, including which test is ordered and who in the family is tested first.  The best way to assure that the appropriate test is ordered is to consult with a health care specialist with expertise in cancer genetics prior to having genetic testing. Most insurance companies will pay for genetic testing if you meet specific criteria.  For the first person in a family to have testing, the cost is about $3500.  If a mutation is found in the family, then subsequent testing may be able to focus specifically on the mutation that was already found. In that case the cost for testing is about $400. 

People who are of Jewish descent may be able to start by testing for the three common mutations found in Jewish populations.  The cost for testing for those three mutations only is about $460. 

For more information about hereditary cancer, genetic counseling, and BRCA genetic testing, visit the FORCE website.

Please join me at our 2009 Conference in Orlando this May.
http://www.facingourrisk.org/annual_conference

Copyright FORCE-Facing Our Risk of Cancer Empowered, Inc.


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SUE FRIEDMAN, DVM is Executive Director of the national nonprofit organization Facing Our Risk of Cancer Empowered (FORCE).  A veterinarian by trade, Sue left her busy practice to be full-time director of the only national nonprofit organization devoted to people and families affected by hereditary breast and ovarian cancer.  Sue founded FORCE ten years ago after her own diagnosis at age 33 with breast cancer and after learning she carries a BRCA 2 mutation which predisposed her to cancer.  Sue is now a 13-year survivor of breast cancer and lives with her husband and son in Tampa, FL.

Genes and Breast Cancer:  Are you at Risk?
Susan Friedman, Executive Director  FORCE