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results and next steps – .


Genetic tests look at certain genes with known links to breast cancer. The presence of these mutations increases the likelihood that a person will develop breast cancer. Genetic testing may not be suitable for everyone.

The following article describes genetic testing for breast cancer, results, next steps, and more.

Genetic testing can help identify if a person has genetic mutations that may increase their chances of developing breast cancer in the future. According to the American Cancer Society (ACS), approximately 5-10% cases of breast cancer occur as a result of inherited genetic mutations.
There are several genes that can increase a person’s risk, but the most common are mutations in the BRCA1 or BRCA2 gene.

Genetic tests usually look at the BRCA1 and BRCA2 genes.

Less often, a healthcare professional may suggest genetic testing for the following genes:

If test results indicate that a person has a gene that can increase their risk for breast cancer, a doctor can work with them to determine an appropriate screening plan to help detect cancer earlier if it develops.

Learn more about the genes that can cause breast cancer here.

A genetic counselor may recommend a multigene panel, which can look for a variety of different types of mutations or genetic variants in a test, including BRCA genes.

How precise are they?

According to National Institute of Cancer (NCI), genetic testing is pretty accurate. But there are no tests that are 100% error free.


Not all people need genetic testing for breast cancer. But several groups of people are at greater risk and may therefore benefit from genetic testing.

The ACS suggests that the following people may benefit from genetic testing:

  • those with a family history of a BRCA mutation
  • women with a previous diagnosis of ovarian cancer, pancreatic cancer or breast cancer
  • men with breast cancer, pancreatic cancer, or metastatic prostate cancer
  • those with a family history of early-onset breast cancer
  • those in which a close family member has a history of metastatic prostate cancer, ovarian cancer, or pancreatic cancer

In addition, those who have been previously diagnosed with breast cancer may undergo genetic testing if:

  • they were diagnosed between 45 and 50 years of age or younger
  • they are diagnosed with triple negative breast cancer at age 60 or younger
  • they are of Ashkenazi Jewish origin
  • they have a family history of ovarian cancer, breast cancer, pancreatic cancer, or prostate cancer
  • they were diagnosed with breast cancer for the second time

Before getting a test, a person should consider talking to a doctor about their potential risk.

The Centers for Disease Control and Prevention (CDC) Note that a doctor may refer a person for genetic counseling if they meet any of the criteria based on the guidelines above. They will take a detailed medical and family history, discuss testing options, and review the results. They will also discuss the cost and potential risks of the test.

If a doctor or genetic counselor decides that genetic testing can be helpful, they can help people set up the test.


Once a person decides to get tested, the procedure is straightforward. Trial generally requires one of the following:

  • blood sample
  • saliva sample
  • cheek swab

After the test, the genetic counselor will review the results and help determine what further action, if any, needs to be taken.


A doctor sends test samples to a commercial lab for analysis.

Results can take between 2-4 weeks to recover. But it may take longer depending on the lab, a person’s confidence, and other factors.

When the lab sends the results, a person should make an appointment with the genetic counselor or doctor to review the results.

There are four possible results that a lab can return. They are:

  • Positive result: This means the lab has found a genetic variant that has links to breast cancer. A positive result can:
    • help guide management techniques to help reduce a person’s risk of developing breast cancer
    • providing information to other family members to help them make decisions about their own health
    • confirm that breast cancer is probably due to the gene and help guide treatment options for people with breast cancer
  • Negative result: This means that the lab has not found a gene that may increase the risk of breast cancer. If a family member has a gene linked to breast cancer, a negative result can confirm that a person has not inherited the gene.
  • Variant of uncertain significance: This means that the results are uncertain. Variants that were uncertain in the past are usually reclassified as benign. But in some cases, the variant may be linked to an increased risk of breast cancer. A doctor may advise a person to come back for genetic testing a few years later.
  • Benign variant: This means that there is a genetic change that is common in people without cancer.

The next steps to take may depend on the outcome.

Negative result

According to Breastcancer.org, if a person’s test result is negative but they have a family member with a breast cancer gene, their risk of breast cancer is the same as the general population. general, who is 12–13% during their lifetime.

Men who test negative have the same risk of developing breast cancer as other men.

Women at average risk for breast cancer should:

  • do regular self-exams and have regular breast exams
  • get regular mammograms
  • have a well-balanced diet
  • regular exercise
  • minimize their alcohol consumption

Positive result

If a person has breast cancer and tests positive, a healthcare professional will discuss potential treatment options. For example, a positive test for a BRCA1 or BRCA2 gene means that a person may be a good candidate for hormone therapy.

People may also want to discuss their risk of developing secondary breast cancer or ovarian cancer with a healthcare professional.

For those who do not have breast cancer, they may want to:

  • speak with a doctor to discuss the steps they will need to take to help reduce their risk of developing breast cancer
  • consider scheduling regular screenings
  • discuss preventive surgery with a doctor

Getting positive test results does not mean that a person will permanently develop breast cancer. It just means that they have a higher risk of developing breast cancer in the future.

Uncertain outcome

A person whose outcome is uncertain may still have a higher risk of developing breast cancer. As a result, people should discuss their options with a doctor.

People can consider the following options:

  • talk to a healthcare professional about the start of annual mammograms
  • discuss with a healthcare professional the possibility of being screened for ovarian cancer
  • having a breast exam every 6 months
  • maintain a balanced and moderate lifestyle
  • discuss preventive surgery with a healthcare professional

Genetic testing can offer a person some potential benefits.

They understand:

  • peace of mind if the test is negative
  • be able to take steps to help reduce their risk of developing cancer if the result is positive
  • be able to make decisions about potential treatment options
  • give family members the opportunity to learn about their cancer risk

Genetic testing for breast cancer may not be suitable for everyone. A person should speak to a doctor before accepting the test.

Some potential drawbacks include:

  • anxiety, depression, or other mental health issues because of a positive result
  • cost of tests and follow-up appointments, if a person does not have insurance
  • uncertainty and stress due to abnormal or uncertain results
  • feelings of guilt if a person passed on the genes

The NCI warns that people may encounter issues of confidentiality and discrimination. Test results may be visible to people or organizations who have legal access to their medical records. This can include insurance companies and potential employers.

The Genetic Information Nondiscrimination Act (GINA) of 2008 prohibits discrimination based on a person’s genetic information. GINA can protect people regarding a person’s employment or eligibility for health insurance. But it does not cover:

  • life insurance
  • disability insurance
  • dependence insurance
  • those in the army

The ACS notes that genetic testing can be expensive and insurance companies may only partially cover the test.

According to BreastCancer.org, costs can range from $ 300 to $ 5,000 for tests without insurance coverage. Costs vary depending on the facility, as well as the number of different genes examined by the tests.

People without insurance can benefit from a reduced rate. Doctor’s offices may also be able to provide information about potential assistance programs.


Some companies now offer genetic breast cancer screening kits that a person can use at home. A person submits a saliva sample or oral swab by mail and gets their results by phone, mail, or a secure website.

But the THREAD notes that these kits typically test for common inherited genetic variants that only slightly increase the risk of developing breast cancer. Genetic tests ordered by a healthcare professional look for genetic variants that lead to a moderate to high increase in risk.

Besides, BreastCancer.org Note that while testing may be helpful for some people, many insurance companies will only pay for one genetic test in a person’s lifetime. This means that its use during a home test may prevent a person from obtaining coverage for a more comprehensive test.


Genetic testing can help identify if a person has inherited a gene that increases their chances of developing breast cancer. But it is not for everyone.

Doctors generally recommend it for people who are at higher risk of having a mutation in a gene that can increase the risk of developing breast cancer. The results may show that a person has a high risk factor, but it can lead to emotional distress and can also make it more difficult for a person to obtain life insurance.

If a person decides to have a genetic test, they should first talk to their doctor. They should also speak with a genetic counselor before and after genetic testing. They can help explain the results and develop a plan for the future.

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