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What Is Brca Testing For Breast Cancer

British Columbia Specific Information

What is BRCA testing? Why is it important?

Breast cancer is the most common type of cancer in women in British Columbia. Breast cancer can occur in men as well, but it is not as common. Tests and treatments for breast cancer vary from person to person, and are based on individual circumstances. Certain factors such as your age, family history, or a previous breast cancer diagnosis may increase your risk of developing breast cancer. For information about your specific risk factors, speak with your health care provider.

A number of screening methods, including mammograms in women, can help find and diagnose breast cancer. The decision to have a mammogram or use any other screening method may be a difficult decision for some women. While screening for breast cancer is often recommended, it is not mandatory. Speak with your health care provider for information regarding how to get screened, the facts and myths about screening tests, how to maintain your breast health, and to get help making an informed decision.

For more information about breast cancer and breast cancer screening, visit:

If you have questions about breast cancer or medications, speak with your health care provider or call 8-1-1 to speak with a registered nurse or pharmacist. Our nurses are available anytime, every day of the year, and our pharmacists are available every night from 5:00 p.m. to 9:00 a.m.

What Is The Breast Cancer Gene

The BRCA gene is commonly referred to as The Breast Cancer Gene. If someone inherits a broken version of this gene at conception, they carry a significantly increased lifetime risk of breast cancer and ovarian cancer. This gene mutation can come from either their mother or father. Most breast cancers are not the result of BRCA mutations. In fact, it is estimated that BRCA and similar genetic mutations cause only 5 to 10% of all breast cancers.

If you are a woman and test positive for a BRCA mutation, your physicians can advise you how to reduce your risk of developing breast and ovarian cancer in the future. There are excellent prevention strategies to lessen your cancer risk. There are also enhanced screening options to detect cancers earlier when they are more curable. You must be your own advocate to find out if you are a candidate for genetic testing.

This is the condition that was widely reported in the media when celebrity Angelina Jolie announced that she had mastectomies and reconstruction of both her breasts to reduce her personal risk of developing breast cancer. Although she did not have breast cancer, she tested positive for the BRCA mutation. She underwent testing because she had a strong history of breast and ovarian cancer in her family.

The First And Only Direct

23andMe offers a genetic test for three variants in the BRCA1 and BRCA2 genes to its Health +plusAncestry Service customers. This genetic test detects three selected variants in the BRCA1 and BRCA2 genes BRCA1 185delAG; BRCA1 5382insC; and BRCA2 6174delT that are among the most studied and best understood. These three variants are most common in people of Ashkenazi Jewish descent. If you have one of these three variants, you have an increased risk of developing certain cancers.

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What Are The Potential Problems With Genetic Testing

Genetic testing is not 100% accurate. If a test is negative, a person still has a chance of getting breast cancer. If the test is positive, there is still a 15% to 20% chance of not getting breast cancer.


Genetic testing is costly, ranging from about $400 to more than $3,000, depending on the type of test. Insurance coverage varies.

The results of genetic tests won’t be available for several weeks. The length of time it takes to get results depends on the tests performed and under what circumstances they are done.

Genetic testing is very controversial. Legislation has been enacted to protect people who may have a documented genetic risk of cancer from employment or insurance problems. The best thing you can do is to become involved with an established genetic registry that can counsel people who have a genetic risk for cancer.

Emotional Risks For Family Members

Early Cancer Detection Starts with BRCA Genetic Testing

Genetic testing may also have an emotional impact on family members.

Your genetic counselor may suggest you talk to your family about BRCA1/2;or expanded panel testing before you get tested or before you learn your results. That way you can find out if they want to know about your results.

For people with a BRCA1/2;or other high-risk inherited gene mutation, figuring out how to tell relatives can be hard.

Some family members may value the option of BRCA1/2;or panel testing. Others may be upset, anxious or angry about hearing the news.

If you have concerns about the best way to share the news with your family members, talk with a genetic counselor. You may prefer to write a letter to your relatives , especially if you have a big family. Your genetic counselor may be able to help you write this letter.

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What To Do If You Suspect Familial Breast Cancer

Get genetic counseling.

Right now, it can be tough to know the differences among genetic information that is significant, insignificant or simply not yet understood. You need someone who can ask the right questions about your family history and help you interpret the test results. Always work with a;genetic counselor, who can ask questions, provide guidance and order the right test panel for your family situation.


More cancer-causing mutations or mutations combined with environmental factors are known today compared to even a few years ago.

Consult a breast surgeon.

If your genetic counseling and testing process yields any results that leave you concerned, a breast surgeon may be able to help you convert the tangle of statistics into an action plan for what to do next.

Positive Test Results And Gina

Many people avoid;genetic testing;because they believe it will affect their health and;life insurance. This should not be a concern for anyone in the;United States. In 2008, an act was put into place to ensure people were not discriminated against based on their genetic makeup. The act is called;GINA, and it stands for;the;Genetic Information;Nondiscrimination Act.;

A DNA test revealing a;cancer gene;should not have any influence on insurance.;Insurance companies;know this and if you ever feel as though youve been discriminated against based on your genes, contact a legal;professional.;

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What Are The Benefits Of Genetic Testing

For some women, genetic testing may help you make informed medical and lifestyle decisions while easing the anxiety of not knowing their genetic background. You can also make a decision regarding prevention, with both medications and prophylactic surgery. In addition, many women take part in medical research that, in the long run, may lower their risk of death from breast cancer.

Who Should Be Tested For Brca

Implications for Germline BRCA Testing in Breast Cancer

While;BRCA1 and BRCA2 gene mutations;may increase your odds of developing breast cancer, your odds of having either mutation are pretty small. An estimated 0.25% of the general population carries a mutated BRCA gene, or about one out of every 400 people.

For some people, though, the chances of having a BRCA gene mutation are much higher. Genes are inherited, which is why knowing your family history is important when determining;breast cancer risks. If one of your parents has a BRCA mutation, you have a 50% chance of inheriting the mutated gene.

Odds can also vary depending on a persons ethnicity. For example, people of Ashkenazi Jewish descent have a 2.5% chance of inheriting a BRCA mutation, or about 10 times the rate of the general population.

Because the overall odds are so low, most experts recommend that only people with a heightened risk get tested for BRCA mutations. Likewise, insurance companies often only cover genetic counseling and testing for individuals who are at high risk. A person could be considered at high risk for BRCA mutations if they have a family history of:

There are also;other gene mutations besides BRCA that could increase the risk of breast cancer. The most prominent of these is PALB2. As with BRCA1 and BRCA2, testing for other genetic mutations is recommended only if you are at high risk for that particular gene.

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Who Is A Candidate For Brca Gene Testing

Discuss this with your health care provider or treatment team as this information is frequently updated. Guidelines for testing may include the following:

  • A personal history of breast cancer diagnosis at a young age, bilateral breast cancer, breast and ovarian cancer diagnosis, or a personal history of ovarian cancer
  • A personal history of bilateral breast cancer
  • A personal history of triple negative breast cancer diagnosed at age 60 or younger
  • Ashkenazi Jewish heritage;and;a personal history of breast cancer
  • A family history of breast cancer at a young age or ovarian cancer and a personal history of breast cancer
  • A person or a family member with bilateral breast cancer, ovarian cancer, or both breast and ovarian cancer
  • A relative with a known BRCA1 or BRCA2 mutation
  • A personal or family history of male breast cancer

There is only a very small chance your family carries a;BRCA1/2;mutation if you or a family member is the only person in your family with breast cancer and breast cancer occurred at an older age.

In most cases, genetic testing is not recommended when there is a low chance of finding a mutation.

Most breast cancers are not due to a;BRCA1/2;or other inherited gene mutation linked to breast cancer

Is Genetic Testing Covered By Most Insurance Companies

Yes, it is usually covered by insurance when medically indicated. There has to be a reasonable likelihood that the gene is in the family, and we have to determine how the genetic testing will impact medical management. The genetic counselor will help to facilitate any required insurance pre-authorizations after the genetic counseling appointment.

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Questions To Ask The Health Care Team

If you are concerned about your risk of cancer, talk with your health care team. It can be helpful to bring someone along to your appointments to take notes. Consider asking your health care team the following questions:

  • What is my risk of developing breast cancer and ovarian cancer?

  • What is my risk for other types of cancer?

  • What can I do to reduce my risk of cancer?

  • What are my options for cancer screening?

If you are concerned about your family history and think your family may have HBOC, consider asking the following questions:

  • Does my family history increase my risk of breast cancer, ovarian cancer, or other types of cancer?

  • Should I meet with a genetic counselor?

  • Should I consider genetic testing?

Breast Cancer Risk Reduction Guidelines For People With High

The Role of BRCA Mutations in Breast Cancer

If you have a BRCA1/2 inherited gene mutation, there are options to help lower your risk. Discuss these options with your health care provider.

Women with certain other high-risk gene mutations may also consider risk-lowering drugs or preventive surgery to lower their risk of breast cancer. However, risk reduction guidelines for women with other high-risk gene mutations are less clear than those for women with BRCA1/2 mutations. As more is learned about these mutations, guidelines can be more personalized.

Whether or not you have a gene mutation related to breast cancer, there are things you can do to help lower your risk.

If you have a BRCA1/2 inherited gene mutation, talk with your health care provider about the pros and cons of these options.

There are risk reduction guidelines for women with some of the other high-risk gene mutations. However, these guidelines may be less clear than those for women with BRCA1/2 mutations. As more is learned about these mutations, guidelines can be more personalized.

If you have a high-risk gene mutation, talk with your health care provider about whether a risk-lowering drug or preventive surgery may be an option for you.

Take your time. Dont feel you need to rush to make a decision.

Learn more about options for women at high risk.

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How Can Brca And Genetic Testing Be A Gift To Your Family

If you are a mutation carrier, your family members are also at risk for carrying the exact same genetic mutation. The exact risk depends upon how closely they are related to you. Germline mutations can run in families for hundreds or even thousands of years. So if you have the BRCA mutation, you inherited it from one of your parents. That side of your family would all be at risk. If you have children, each child will have a 50% chance of also carrying the same broken gene you inherited.

Some people undergo testing solely to share with loved ones if a mutation runs in the family. If it does, others can seek genetic counseling about their personal risk of carrying the same cancer-causing mutation. This knowledge can potentially save lives in your family.

Variant Of Uncertain Significance

A VUS test result is not conclusive. However, most of the time, minor changes in a gene turn out to be normal variants. Most VUS results do not impact the genes ability to work, meaning they dont increase the risk of breast cancer. VUS results are usually treated similar to negative results.

VUS results are much more common with expanded panel testing than with BRCA1/2 genetic testing. Panel testing looks at many genes . With more genes in the test, its more likely youll get a VUS.

Over time, the lab may clarify the meaning of the VUS and send an updated test report to the health care provider who ordered the test. You should be notified if the VUS gets updated.

You can also check with the health care provider who ordered the test every 1-2 years to see if there is any new information about the VUS. While this may seem like a long time to wait, the information isnt likely to change very often.

A VUS test result can be confusing. If you have any questions about a VUS result, meet with a genetic counselor to go over the results.

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Beyond Brca: Get Screened For These Additional Genetic Mutations

Have you or a family member been screened for the BRCA gene mutations and come up negative? If you still suspect a family connection due to a history of breast or other cancers, or an occurrence of breast cancer before age 50, there are reasons to continue to pursue answers.

Ten percent of all breast cancers are known to be hereditary, says David Euhus, director of breast surgery at Johns Hopkins. But we also know from identical twin studies that up to 25 percent have some familial component. That means an additional 15 percent of all breast cancers may be hereditary, but we dont yet know the genetic mutations involved.

Most hereditary breast cancers that we do currently recognize are caused by a mutation in the BRCA1 or BRCA2 genes. These genes normally help suppress tumor growth, but when certain parts of the gene sequence are incorrect, tumors are more likely to form.

But in the last several years, some new genetic mutations associated with an increased risk of breast cancer have been identified. With proper genetic counseling, you might now be able to get answers that werent available just a few years ago.

Each family is different, says Euhus. Each has a unique impact from other genes. That means a genetic mutation known for increasing the chance of breast cancer might not be of concern unless theres another set of mutations in another set of genes, meaning the mutations listed below are only part of the picture.

What Testing Involves

Breast Cancer (BRCA) Gene Test

There are usually 2 steps to genetic testing:

  • A;relative with cancer has a diagnostic blood test to see if they have a cancer risk gene . Their result will be ready;6 to 8;weeks later.
  • If your relative’s test is positive, you can have the predictive genetic test to see if you have the same faulty gene. Your GP will;refer you to a local genetics service for a blood test . The result will usually take;up to;2 – 4 weeks to come through after a blood sample is taken, but;this may not happen at;your first appointment.;This test is very likely to find the faulty gene but on rare occasions it may miss it.
  • When there are no affected relatives available, full testing of BRCA1 and BRCA2 may be possible for those with at least a 10% chance of having a faulty gene. This usually means having a very strong family history of early onset breast and particularly ovarian cancer. It can take 4 to 8 weeks or longer to get the result.

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    How To Get Tested

    If you are concerned that certain cancers run in your family, your first step may be talking to your primary care provider. Talk to your doctor about the types of cancers that have occurred in your family, how old people were when the cancer was found, if any relatives had more than one cancer, and if you have Ashkenazi Jewish ancestry. Based on this information, a doctor can assess the likelihood that you could have a genetic mutation in your family.

    Your primary care provider can order BRCA gene testing for you or they may refer you to a genetic counselor. You can also find a genetics counselor on your own using the National Society of Genetic Counselors directory.

    A genetic counselor can perform a risk assessment, weighing a number of factors to determine whether you are likely to have a harmful gene mutation. They can also discuss the pros and cons of genetic testing and answer any questions you may have. The counselor can order genetic testing for you and may be able to take a blood or saliva specimen for testing in their office. Or you may be asked to provide your sample at a lab.


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