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Who Should Get Genetic Testing For Breast Cancer

My Breast Cancer Genetics Testing Journey

Should You Get Genetic Testing for Cancer?

I was tested for the BRCA mutations in 2008 when I was forty-one years old.

I asked for this genetic test because of my double risk factors: I am of Ashkenazi Jewish descent and have a family history of breast cancer. My paternal grandmother suffered from breast cancer at an age that is considered fairly young, prior to fifty.

When I asked for the breast cancer genetic test my practitioner replied: Ive never had anyone test positive for this, so you dont need it.

Can Children Have A Cancer Gene Test

Children under the age of 18 cannot usually be tested. This is because anyone having a genetic test needs to be old enough to make their own choice about whether to have the test or not. They also need to be able to understand the possible benefits and risks that having the test might have on them and their family members.

The exceptions to this are tests for genes that can cause cancer at a young age and for which there is screening that works well. These include:

  • familial adenomatous polyposis

Whats Involved In A Genetic Test

A person undergoing a genetic test will give either a blood or saliva sample thats analyzed to look for mutations. At our center, we test for up to 35 genes , depending on a persons personal or family history, Kawaja says. If a patient wants to do the test at home, we can send them a saliva test kit. The testing can look for mutations that increase the risk of breast, ovarian, prostate, pancreatic, gastrointestinal and skin cancer.

During the genetic counseling session, it will be determined whether a patient is likely to meet their insurance requirements for testing, Kawaja says. If the requirements arent met, but testing is still recommended or desired, it may cost anywhere from $0 to $250 out-of-pocket.

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What About Privacy Issues And Genetic Testing

Most people who ask about the privacy of genetic information are worried about how the information could be used in ways that can harm them. Most Americans are afraid that employers and insurance companies might get and use their genetic information. The truth is, patients, families, and health care providers are not the only ones interested in genetic information. Here are some of the other groups who might want to use this information:

Genetic Counseling And Testing For Breast Cancer Risk

Genetic Testing In Cancer

Some people inherit changes in certain genes that increase their risk of breast cancer . Genetic testing can look for mutations in some of these genes. While it can be helpful in some cases, not everyone needs to be tested, and each person should carefully consider the pros and cons of testing. Its very important to understand what genetic testing can and cant tell you before these tests are done.

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Weighing The Risks And Benefits Of Genetic Testing

A health care provider or genetic counselor can talk with you about the risks, benefits and issues you may face when youre considering genetic testing.

Testing for BRCA1, BRCA2 and other inherited gene mutations only requires a blood or saliva sample. However, there can be physical, emotional and financial impacts of knowing whether or not you have an inherited gene mutation. Thats why its important to carefully consider whether you want to be tested.

Genetic testing is especially helpful for people who fall into one of the categories listed above.

Even if its recommended, genetic testing is a personal decision. A genetic counselor can help you decide if genetic testing is right for you . If you decide to get tested, your genetic counselor can help you choose the test that meets your needs.

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For a woman with a lower risk mutation, we might recommend starting yearly mammograms a little earlier than age 40 and adding in other screening tests, such as a breast MRI. A woman with a higher risk mutation might consider a medicine such as tamoxifen or raloxifene, which reduces breast cancer risk by blocking the action of estrogen in breast tissue. If the concern is high, I may even recommend discussing the option of having a preventive double mastectomy. That might sound drastic, but preventive surgery can save livesespecially when you take into account that the risk of developing breast cancer at some point in your lifetime if you have a BRCA mutation can be anywhere from 65% to 80%. Even in the setting of a BRCA mutation, mastectomy is not the only option. Intensive screening and medication approaches can also be appropriate.

If you do undergo genetic testing and dont have any of these mutations, that doesnt mean that youre completely in the clear, either. There may still be some genetic mutations we just dont know about. Having any first-degree relative with breast cancer almost doubles a womans risk, according to the American Cancer Society. And if you have two first-degree relatives, that raises it threefold. Thats why its so important to talk with your health care provider to understand your risk of breast cancer and which of these approaches might reduce your risk.

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Should I Get Genetic Counseling

You may want to talk with a genetic counselor before or after you have genetic testing.

If youre considering genetic testing to learn whether you have an inherited gene mutation related to breast cancer risk, its recommended you talk with a genetic counselor before genetic testing. A genetic counselor can help you determine whether genetic testing would give you useful information, and can discuss the benefits and risks of testing with you.

If youre getting genetic testing to help guide your breast cancer treatment, talking with a genetic counselor before or after testing can help you learn whether your test results affect you and your familys risk of breast cancer and other cancers.

For more information on genetic counseling, visit the National Cancer Institutes website or visit the National Society of Genetic Counselors website.

The National Society of Genetic Counselors has an online directory to help you find a genetic counselor.

Learn more about genetic counseling and weighing the risks and benefits of genetic testing to learn about breast cancer risk.

Less Common Altered Genes

When Should Genetic Testing For Breast Cancer Be Considered?

Women with an altered PALB2 gene have a 4463% risk of breast cancer.


Women with an altered TP53 gene have an up to 85% risk of breast cancer.

The lifetime risk for a person with an altered TP53 gene to develop any type of cancer is 90%.


Women with an altered CHEK2 gene have a moderate risk of developing breast cancer.

Moderate risk is higher than the general population. However, its still more likely they will not get breast cancer.


Women with an altered ATM gene have a moderate risk of developing breast cancer.

Moderate risk is higher than the general population. However, its still more likely they will not get breast cancer.

Other genes

Some genetic conditions caused by rare altered genes are also associated with breast cancer.

These include:

  • Peutz-Jegher syndrome
  • Cowden syndrome/PTEN hamartoma tumour syndrome
  • Hereditary diffuse gastric cancer syndrome gene)
  • Neurofibromatosis type 1

If one of these runs in your family, your genetics team will talk to you about your risk of breast cancer.

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Benefits For Family Members

You can share your test results with family members who may benefit from genetic testing. This gives your adult children and other family members the option of getting genetic testing to learn more about their own risks of cancer. A genetic counselor can help you figure out how to share this information in a way thats comfortable for you.

Once a BRCA1/2 or other high-risk inherited gene mutation is found, genetic testing is available to family members who are age 18 or older.

If you have a high-risk gene mutation, your children have a 50 percent chance of having the same mutation. Other family members may also be at risk for having the mutation.

Remember, just because one family member has a gene mutation doesnt mean everyone in the family does.

Family members who have the gene mutation may have special breast cancer screening recommendations and risk-lowering options.

Learning About Your Family Background

If you or any of your family members have had breast cancer, you may be a candidate for genetic testing. The best way to get started is to learn more about your family history on your mothers and fathers sides. An abnormal gene that increases breast cancer risk is more likely to run in your family if:

  • your family is of Ashkenazi Jewish descent

You may be interested in meeting with a genetic counselor a medical professional specially trained to understand and provide information about genetics and disease. A genetic counselor works with you to build a family tree that shows all cases of breast, ovarian, and other types of cancer in your family, along with the ages at which they occurred. This visual history can help you determine whether or not genetic testing makes sense for you. Before you can build this family tree, however, you may need to do some research.

As you identify possible cases of breast cancer or ovarian cancer in your family, try to confirm them with medical records and a pathology report whenever possible.

For example, if one of your aunts died of liver cancer, its important to find out whether she was diagnosed with breast cancer that spread to the liver or with cancer that actually started in the liver. If your grandmother was diagnosed with stomach cancer, further investigation may show that it was really ovarian cancer that spread inside the abdomen, affecting her stomach.

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Discuss Your Personal And Family History Of Breast Cancer With Your Doctor

If you discover any family point of interest, take that information to your doctor. Seek a counselors advice if you are concerned. This will help clarify any doubts you may have concerning your risks.

Your genetic counselor will look at your familys history and perform a hereditary cancer risk assessment. Then, based on the results, they will recommend genetic testing, which typically requires only a simple blood draw. It may also be recommended for you to start regular cancer screening.

When May Genetic Testing Be Considered

Genetic Testing for Breast Cancer: What Does The BRCA1 Gene Do?

Although some people dont meet the criteria above for recommended genetic testing, genetic testing may still be appropriate. Genetic testing may be considered for people with :

  • A personal history of bilateral breast cancer , first diagnosed at age 50-65
  • Ashkenazi Jewish heritage
  • A 2½ 5 percent chance of having a BRCA1/2 inherited gene mutation, based on risk assessment models that use family history to estimate risk

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Brca1 Brca2 Palb2 And Other Altered Genes

The most common inherited altered genes that increase the risk of breast cancer are called BRCA1 and BRCA2 .

BRCA1 and BRCA2 genes usually protect us from developing breast and ovarian cancer. However, inheriting an alteration in one of these genes increases the risk of developing cancer.

Other less common altered genes may also increase the risk.

Disadvantages Of Genetic Testing

Some people dont undergo testing because they dont want to know if they have mutations, while others who do have testing may experience guilt if they dont have the mutations that impact family members, Beitsch noted.

The problem with genetic testing is not over testing, it is under testing, Beitsch said. Theyve found less than 10 percent of people with BRCA1 and BRCA2 variants, and much less than that for the other 30+ genes linked to cancer.

However with increased testing, we must provide education and tools for testing and interpretation to physicians to ensure management is optimized, lives are saved, and genetic mismanagement is minimized, he added.

With test costs declining and hopefully more people given the opportunity to undergo testing, more people can take preventative action to minimize their cancer risk through prevention or early diagnosis options, Manchanda said.

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Should I Get Genetic Testing For Cancer Risk

Genetic testing is a hot topic and can be used to learn about inherited cancer risk. But there are many things to think about before you do it. If you have any indications that suggest you might benefit from testing , talk with your health care provider and plan to meet with a genetic counselor so you know what to expect.

Here are some of the things you should discuss and consider before testing.

Metastatic Breast Cancer Genetic Testing To Guide Treatment

Why You Should Have a Genetic Test for Breast Cancer

The National Comprehensive Cancer Network recommends everyone diagnosed with metastatic breast cancer get genetic testing for BRCA1 and BRCA2 inherited gene mutations . People who have an inherited mutation in one of these genes may have a PARP inhibitor drug included in their treatment plan .

As more is learned and breast cancer treatment becomes more personalized, inherited gene mutations may help guide other parts of breast cancer treatment, such as the use of other drug therapies.

Learn more about treatments for metastatic breast cancer.

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How Genetic Test Results May Influence Treatment Decisions

If youve already been diagnosed with breast cancer, genetic test results may identify the reason for your cancer and influence treatment decisions, such as which surgical procedure or what kind of follow-up is recommended .

Some patients are confident about their surgical and other treatment decisions regardless of what genetic testing shows. Others use genetic testing to guide their treatment plan.

When it comes to breast surgery, for example, some patients who know they have a higher chance of developing a second breast cancer decide to have more extensive surgery, such as a mastectomy or a double mastectomy. Conversely, when others discover they dont have a BRCA or other mutation, they sometimes decide to have a lumpectomy to remove the tumor instead of a double mastectomy to remove both breasts.

Knowing this information prior to surgery may help some people make a decision they wouldnt otherwise have made, or it may allow them to make a decision with more confidence.

The results of genetic testing sometimes allow the oncologist to consider other treatments, such as targeted therapy and different types of chemotherapy, that may not otherwise have been an option.

How Testing Can Help If Youve Already Been Diagnosed

If youve been recently diagnosed with breast cancer, your doctor may recommend genetic testing depending upon your age at diagnosis, your family history, what type of breast cancer you have and other factors.

However, some organizations, including the American Society of Breast Surgeons, say testing should be made available to all women after a breast cancer diagnosis regardless of family history and cancer subtype and a growing number of physicians are offering patients the choice. The genetic testing would be in addition to biopsy results that reveal which type of cancer you have or a tumor-profiling test that looks for specific mutations in tumor cells.

Genetic testing can help you and your health care provider make decisions about treatment. If you need chemotherapy, for example, your test results can help determine which specific drugs the tumor is most likely to respond to. And women with some gene mutations can benefit from a new type of medication called PARP inhibitors. Personalized medicine this is really what were moving towards, Larsen Haidle says.

A positive test result may also influence a womans decision about surgery.

Take Ellen Rostker, 59, of Ann Arbor, Michigan. She was diagnosed with stage 2 breast cancer in her left breast in late 2020. Both her oncologist and her surgeon recommended genetic testing before her surgery.

Im so glad I had the testing because it made my surgery decision so much easier, Rostker says.

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Breast Cancer Education And Breast Cancer Month

Breast cancer education is an important part of cancer prevention and treatment.

If youre wondering when is breast cancer month its in October each year. In addition to raising awareness of breast cancer, its important to continue the effort and make sure that women have access to good cancer prevention and treatment.

Awareness and talk without proper delivery of medical services are simply chatter laced with empty promises, and women deserve better.

Understanding The Genes Linked To Breast Cancer

Genetic Test for Breast Cancer

BRCA1 and BRCA2 are the two most well-known genes whose hereditary mutations increase the risk of developing breast cancer. However, you should know that most cancers are not passed from parent to child. But what if you take a genetic test and this one comes out positive? What does it mean?

When a woman is found with abnormalities in BRCA1 or BRCA2 genes, she is usually diagnosed with Hereditary Breast and Ovarian Cancer syndrome. This essentially means that she has an 87% chance of developing cancer.

Preventative measures are then put into place. These include an annual breast MRI for women aged 25 to 29 and alternating with yearly mammograms once they turn 30.

Removing breast tissue or prophylactic bilateral mastectomy is an option for breast cancer management. It reduces your chances of ever developing it by 95%.

Learn more about BRCA1 and BRCA2 in this article about genetic cancer testing.

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If You Were Diagnosed With Breast Cancer In The Past

If you were diagnosed with breast cancer in the past and were only tested for BRCA1/2 inherited gene mutations , the NCCN recommends you consider expanded panel testing.

Testing may give you information about your risk of developing another cancer.

Panel testing may also help your family members better understand their risk of breast cancer and other cancers. In some cases, panel testing may help tailor their cancer screening.

In most cases, genetic testing results wont likely impact your breast cancer treatment or follow-up care. However, people with metastatic breast cancer who have a BRCA1/2 gene mutation may have a PARP inhibitor drug included in their treatment plan .

Talk with your health care provider or a genetic counselor about whether it would be useful to have panel testing.


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