What Is BRCA1 & BRCA2 Testing?

Introduction 

Not all cancers are due to a bad lifestyle or environmental factors. In some people, a change in a single gene, passed down from parent to child, may increase their risk of developing certain cancers. The most commonly known genes related to inherited cancer risk are BRCA1 and BRCA2. 1 A BRCA Gene test can identify inherited harmful variants that increase the risk of certain cancers. 

Key Takeaways

• BRCA1 and BRCA2 are genes that help repair damaged DNA and protect cells.
• A BRCA Gene test can identify inherited variants that increase the risk of certain cancers, including breast and ovarian cancer.
• Personal or family history of certain cancers indicate that BRCA testing could be beneficial.
• A positive result does not mean you have or will definitely develop cancer; it indicates an increased risk that requires personalized monitoring.
• A negative BRCA test does not mean zero cancer risk, when there is a strong personal or family history of cancer.
• Genetic counseling can help you understand your results and make informed decisions about screening, risk reduction, and family testing.

What Are BRCA1 And BRCA2 Genes?

BRCA1 and BRCA2 are genes that help produce proteins involved in repairing damaged DNA. It is normal for people to have two copies of each gene, inheriting one from each biological parent. In some cases, an individual inherits a pathogenic change (also known as a pathogenic variant) in one of the copies of BRCA1 or BRCA2. This can impair the person's ability to heal specific kinds of DNA damage, predisposing them to cancer.

Variants in BRCA1 and BRCA2 genes are known to increase the risk of breast and ovarian cancers. According to the National Cancer Institute, more than 60% of women with a harmful BRCA1 or BRCA2 variant may develop breast cancer in their lifetime. The variants increase risk for ovarian, male breast, prostate and pancreatic cancers. The level of risk can differ between BRCA1 and BRCA2 and may also depend on the person's personal and family factors. ¹

What Is the BRCA Gene Test?

BRCA Gene test can detect inherited mutations of harmful alterations in these genes and helps a person to discover their risk of breast, ovarian, prostate, pancreas and some other cancers. Anyone with a BRCA mutation is not guaranteed to get cancer. The result can be used to guide individuals and their health care teams in making informed decisions about screening and risk reduction. ²

Who Should Consider the BRCA Gene Test?

BRCA Gene test is recommended when someone has a personal or family history that suggests a higher risk of having a hereditary BRCA1 or BRCA2 variant. When indicated, a doctor or genetic counselor evaluates individual risk and suggests BRCA1 and BRCA2 testing or a broader hereditary cancer panel.

Family History

BRCA Gene test is done, if a person has multiple blood relatives with the same or related cancers over two generations. It is done when the person has a higher familial risk for the following:

• BRCA1 or BRCA2 harmful variant
• Breast cancer
• Ovarian, fallopian tube, or peritoneal cancer
• Male breast cancer
• Pancreatic cancer
• High-risk or metastatic prostate cancers

Personal Risk Factors

BRCA gene test is indicated for you, based on the individual's personal history, including:

• Breast cancer at an earlier age
• Triple-negative breast cancer
• Cancer affecting both breasts
• Ovarian cancer
• Male breast cancer
• Prostate cancer
• Pancreatic cancer

Testing indications differ according to clinical standards, individual and familial history, age and context-specific factors. ³

How Does BRCA Gene Test Work?

• Medical and family history review: A doctor or genetic counselor will review your medical and family history before the BRCA Gene test to see if testing is needed. A broader screening may be suggested to analyse multiple genes linked to inherited cancer risk.
• Sample Collection: A BRCA gene test involves a blood or saliva sample. A healthcare professional withdraws your blood, whereas saliva is collected in a sample tube.
• Laboratory Analysis: The collected sample is sent to an accredited laboratory, where it will be tested for genetic alterations in the BRCA1 and BRCA2 genes. ⁴

Understanding BRCA Gene Test Results

A BRCA gene test can give three types of results:

Positive Result

• A positive result means the test has identified a pathogenic or harmful variant in the BRCA1 or BRCA2 gene.
• This indicates an increased risk of developing certain cancers.
• A positive result does not mean that you have cancer or will definitely develop cancer.
• Based on your individual risk, your doctor may recommend:
  • Frequent cancer screenings or tests
  • Additional monitoring
  • Risk-reducing measures
  • Genetic testing for biological family members

Negative Result

• A negative result means the test did not identify the harmful BRCA variant.
• A negative result does not always mean your cancer risk is nil.
• If you have a strong family history of cancer, your risk may still be elevated for other genetic or non-genetic factors.

Variant of Uncertain Significance (VUS)

• Sometimes, a test identifies a genetic change, but there is not enough scientific evidence to determine whether it increases cancer risk.
• This is called a Variant of Uncertain Significance (VUS).
• A VUS should not be treated the same as a positive BRCA Gene test result.
• Until the importance of the variant is clarified, medical decisions are guided by your personal and family history, along with other established risk factors. ⁵

Final Takeaway 

BRCA gene test helps individuals determine risk of inherited cancer in the presence of a personal or family history. Tests are available to determine if one has inherited variants of the BRCA gene that are known to increase the risk of breast, ovarian, prostate, pancreatic and some other cancers.

But a positive result is not a cancer diagnosis, and a negative result does not rule out cancer occurrence. By assessing your genetic risk, you can be proactive in screening, preventative measures, and your long-term health.

Get tested and know your inherited cancer risk with LifeCell’s BRCA1 & BRCA2 Gene Analysis. 

FAQs

1. How much does the BRCA gene test cost?

The cost changes depending on the laboratory, location, type of test, and whether the test examines only BRCA1/BRCA2 or multiple hereditary cancer genes. ⁶

2. What is the difference between BRCA1 and BRCA2?

BRCA1 and BRCA2 are two different genes that both help repair damaged DNA. Harmful inherited changes in either gene can increase the risk of certain cancers. 

3. How is BRCA1 and BRCA2 tested for?

BRCA gene test is performed using a blood or saliva sample. The laboratory analyzes the genetic material in the sample for specific changes in the BRCA1 and BRCA2 genes.

4. What happens if you test positive for BRCA1 and BRCA2?

A positive result means a harmful BRCA variant has been identified. It does not mean cancer is present or inevitable. Depending on the individual's risk profile, doctors recommend additional screening, risk-reduction strategies, and genetic testing for biological family members.