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Gene Test For Breast Cancer

If My Results Are Negative Does That Mean I Don’t Have Increased Risk Of Breast Or Ovarian Cancer

Genetic Testing for Breast Cancer – Mayo Clinic

Genetic testing for pathogenic BRCA1 and BRCA2 gene mutations cannot detect 100% of these mutations. Thus, even with a negative result, there is very small chance that there is a pathogenic BRCA1/2 gene mutation present that was not identified by the testing. This is sometimes called your residual risk. In addition, there are other genes that may have pathogenic mutations that can contribute to a family’s risk for breast cancer or other cancers. Genetic testing for just BRCA1/2 will only detect pathogenic mutations in these two genes. Therefore, if a mutation is present in another gene known to cause an increased risk for breast cancer, BRCA1 and BRCA2 gene testing will not detect it. If a pathogenic BRCA1/2 mutation has been found in your family because a relative has already had testing, and you then test negative for this variant, your residual risk is lower than if the variant in your family was not known. No test will take your risk to zero, but it may be described to you as similar to the risk in the general population.

Genetic Testing And Privacy

Genetic testing isnt anonymous. Your name appears on the test order and the results, which then become part of your medical record. The testing company is not allowed to reveal your results to anyone except your doctor or genetic counselor. Although medical records are confidential, many people worry they may be discriminated against by employers or health insurers if they get a positive genetic test result one that suggests an increased cancer risk.

If you are a U.S. citizen, the 2018 Genetic Information Nondiscrimination Act protects you from being discriminated against by health insurers and potential employers because of your genetic information. But GINA does not apply to small companies with fewer than 15 employees or to the U.S. military. GINA also does not apply to life insurance, disability insurance, or long-term care insurance, so its recommended that people secure these types of insurance plans before getting a genetic test.

It makes sense for residents of other countries to find out what their legal rights are. For example, many European nations have passed nondiscrimination laws like GINA.

How Do I Get Tested For Brca And Other Genes

If your doctor finds that youre at risk for hereditary breast cancer, they will refer you to a genetics professional, such as a genetic counselor, for genetic evaluation and pre- and post-test genetic counseling. Then, your blood is drawn and sent to a clinical lab for genetic analysis.

A geneticist reads your blood test results and follows up with your provider. If you have a positive result, youll meet with your genetic counselor to discuss next steps for your care.

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You Will Be Asked Whether You Want To Receive Certain Genetic Health Risk Reports

Some of our reports are about serious diseases that may not have an effective treatment orcure. Others may have effective treatment or prevention options, but these actions may carrytheir own health risks. You may be upset by learning about genetic risks for these diseases, andabout genetic risks for family members who share DNA. If you tend to feel anxious or have apersonal history of depression or anxiety, this information may be more likely to beupsetting. Knowing about genetic riskscould also affect your ability to get some kinds of insurance.

You can choose to exclude the following reports individually from your account before your resultsare returned to you:

  • Late-Onset Alzheimerâs Disease
  • Parkinsonâs Disease

If you are interested in receiving these reports, we recommend that you consult with a geneticcounselor before purchasing. Additional relevant information about these reports will beprovided when you go through the process of setting your report preferences, after registeringyour kit.

Talking To Your Family

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If your test shows that you have a faulty inherited gene, some members of your family may also be at risk of having that gene. They may also need to have testing. It is helpful to think through how you would feel about this and what it would mean for them.

It is worth thinking about who you might need to tell once you know the result. Talking to your genetic counsellor can help you to work this out.

Recommended Reading: Breast Cancer And Uterine Cancer Connection

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.

Andme Carrier Status Tests: What You Should Know

Carrier status tests detect genetic variants that can causeinherited conditions. These variants are oftenfound primarily in certain ethnicities.

Being a carrier means you have one variant for the condition.Carriers typically don’t have the condition but can pass the variant to theirchildren.

Knowing your carrier status is important when having children.If you and your partner are both carriers, you may have a child with the condition.

Genetic counseling can help you understand your results andoptions. It is recommended before testing, and also if you are a carrier.

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How Common Are Breast Cancer Gene Mutations

Breast cancer gene mutations arent common in the general population, Dr. Eng says, but they are common in people who have breast cancer. About 10% to 15% of people with breast cancer have one of the breast cancer gene mutations.

You can inherit these gene mutations from either of your biological parents, and the cancers theyre linked to can affect both men and women so consider all your relatives when thinking about your family history.

What These Tests Are Not

23AndMe Receives FDA Approval To Test For Breast Cancer Gene Mutations

GEP tests look for abnormalities in gene activity within cancer cells, not genes in normal body cells.

They should not be confused with tests that look for an inherited faulty gene that increases a persons risk of getting cancer in the first place.

GEP tests are also different to other tests that show whether your cancer is likely to respond to a particular drug. This is generally known as personalised medicine.

GEP tests are a step towards personalised medicine because they help a doctor to decide who needs further treatment in general. But personalised medicine tests show whether cancer cells have a particular protein that means a specific drug is likely to work.

An example of this is the Her2 test, this shows whether your breast cancer is likely to respond to trastuzumab .

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A Genetic Mutation Found On A Direct

If a direct-to-consumer genetic test shows you have a BRCA1/2 or other inherited gene mutation linked to breast cancer, meet with a genetic counselor to go over the test results.

In many cases, youll be recommended to get re-tested or have expanded panel testing done in a clinically-approved lab . Your health care provider or a genetic counselor can arrange this testing for you.

Learn more about direct-to-consumer genetic testing.

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.

Re-test.

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.

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Who Should Consider Genetic Counseling And Testing For Brca1 And Brca2 Variants

Anyone who is concerned about the possibility that they may have a harmful variant in the BRCA1 or BRCA2 gene should discuss their concerns with their health care provider or a genetic counselor.

Tests are available to see if someone has inherited a harmful variant in BRCA1 and BRCA2. However, testing is not currently recommended for the general public. Instead, expert groups recommend that testing be focused on those who have a higher likelihood of carrying a harmful BRCA1 or BRCA2 variant, such as those who have a family history of certain cancers. Testing can be appropriate for both people without cancer as well as people who have been diagnosed with cancer. If someone knows they have a mutation in one of these genes, they can take steps to reduce their risk or detect cancer early. And if they have cancer, the information about their mutation may be important for selecting treatment.

Before testing is done, a person will usually have a risk assessment, in which they meet with a genetic counselor or other health care provider to review factors such as which of their relatives had cancer, what cancers they had, and at what ages they were diagnosed. If this assessment suggests that someone has an increased risk of carrying a harmful BRCA1 or BRCA2 gene variant, their genetic counselor can discuss the benefits and harms of testing with them and order the appropriate genetic test, if the individual decides to have genetic testing .

Is There Anything Else I Should Know

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BRCA1/2 testing is increasingly done as part of a larger panel of genes used to identify family hereditary cancer syndromes. Examples of other genes that may be included in the panel are CHEK2, PALB2, and ATM. The exact genes included in the panel will vary by testing laboratory. Your genetic counselor or healthcare practitioner can help you understand the importance of any additional genes included in panel testing.

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When Is Genetic Testing Not Likely To Be Useful

Genetic testing is unlikely to find a gene mutation that impacts risk reduction, screening or treatment in :

  • Women diagnosed with breast cancer after age 60 who dont have a close family member with breast, ovarian, pancreatic or prostate cancer
  • Men diagnosed with early stage or slow-growing prostate cancer who dont have a close family member with breast, ovarian, pancreatic or prostate cancer

Who Can Be Tested For Inherited Faulty Genes

You may be eligible for an NHS genetic test if cancer runs in your family and you are worried you may get it too. The test can tell you whether you have inherited a faulty gene that increases your risk of cancer.

Testing for genes that increase the risk of cancer is called predictive genetic testing. A positive result means you have an increased risk of developing cancer. But it doesnât mean that you have cancer or will definitely develop it.

You may be eligible for an NHS genetic test if:

  • an inherited faulty gene has already been found in one of your relatives or
  • there is a strong family history of cancer in your family

You need to be referred for genetic testing by a specialist doctor .

You can have private genetic testing. But you need to think about this carefully. You can find out more about private genetic testing at the bottom of this page.

At the genetic clinic, you see a genetic specialist or counsellor. They will:

  • look in detail at your family history
  • work out your risk of developing cancer
  • work out whether you need a genetic test

Your first appointment might be at the clinic or over the phone. During this meeting, the counsellor will ask you questions about any members of your family who have had cancer. And how old they were when diagnosed.

Your genetic clinic appointment is your chance to ask questions. If youre not sure what to ask you can look at our questions for your doctor.

You could print them out and add any other questions that you might have.

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What Do The Results Mean

Your provider or genetic counselor will need to explain how your results affect your risk for certain cancers. That’s because the meaning of your test results depends on the exact type of variant you have and your personal and family health history.

In general, your results may be reported using these terms:

  • A negative result means that the test didn’t find any harmful changes in your BRCA genes. How this affects your cancer risk depends on whether you’ve already had cancer and whether a member of your family has a harmful BRCA variant.
  • An uncertain result may also be called a “variant of uncertain significance “. It means that a variant in your BRCA genes was found, but researchers don’t know whether that variant causes cancer.
  • A positive result may also be called a “likely pathogenic variant.” It means that you have a harmful gene variant that is known to increase the risk of certain cancers. But the test cannot tell whether you will develop cancer.

Learn more about laboratory tests, reference ranges, and understanding results.

Less Common Altered Genes

Genetic Testing for Breast Cancer

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

TP53

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%.

CHEK2

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.

ATM

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:

  • 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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Can I Do Genetic Testing At Home

Some at-home genetic tests can help you determine breast cancer risk. These tests typically involve providing a sample of saliva or cheek cells and sending the sample by mail to be tested.

Its recommended that you seek genetic testing from a healthcare professional rather than using an at-home test for the following reasons:

  • an incomplete result: At-home tests may not cover all known variants of a gene, such as BRCA1 or BRCA2. Because of this, a negative result can be misleading.
  • unnecessary alarm: At-home tests may detect common genetic variants that are only associated with a slight increase in breast cancer risk, meaning that a positive result may cause unnecessary alarm.
  • genetic counseling: With genetic testing through a healthcare professional, youll often also have access to genetic counseling both before and after you receive your result. This can help you better understand your result in the context of your overall health.
  • privacy: Your privacy may not be ensured when you use an at-home test. If you do choose to use one, carefully review a companys disclosure policy beforehand.

Getting genetic testing for breast cancer risk has several benefits. But there are some risks involved as well.

British Columbia Specific Information

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.

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