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BRCA Testing: Everything You Should Know

BRCA testing provides you with vital information about you and your family’s chances of developing cancer. If a test returns positive, you and your loved ones can explore early intervention and treatment options to prevent a potential diagnosis from becoming life-threatening.

BRCA (which stands for BReast CAncer) genes serve as proteins meant to help repair damaged DNA. We have two copies of BRCA1 and BRCA2 genes: one from each parent. Our BRCA1 and BRCA2 are “tumor suppressor genes.” When your body undergoes certain changes, you can inherit harmful mutations in these genes, which can lead to cancer development.

According to Cancer.gov:

  • About one in eight women develop breast cancer sometime during their lives.
  • “55%-72% of women who inherit a harmful BRCA1 variant and 45%-69% of women who inherit a harmful BRCA2 variant will develop breast cancer by 70-80 years of age.”
  • Women with harmful BRCA1 or BRCA2 variants that develop breast cancer in one of their breasts are at increased risk of developing breast cancer in their other breast later in life.

In this post, we will cover all the basics of BRCA testing, including:

  • Who should get tested?
  • What does a BRCA test entail?
  • Why should you get tested?
  • What do your BRCA test results mean?
  • Are there any risks to getting tested?
  • Does insurance cover BRCA testing?
  • When should you get tested?

Who Should Get Tested?

Women with a family history of breast or ovarian cancer are at most risk. BRCA testing is recommended regardless of whether you have a cancer diagnosis.

Harmful mutations in BRCA1 and BRCA2 are also more common in certain racial and ethnic populations, including Norwegian, Dutch, and Icelandic peoples and people of Ashkenazi Jewish descent .

What Does a BRCA Test Entail?

Most often, the BRCA testing is a blood test. Your physician will draw blood from one of your veins and send your sample to a lab for DNA analysis. In some cases, your physician may also take a sample of your saliva for DNA analysis.

Why Should You Get Tested?

Here are a few reasons why you should get a BRCA test:

  • Peace of mind – Discovering that you don’t have a harmful mutation in your BRCA genes can help you sleep a little easier at night.
  • You’re being proactive – If you have a mutated gene, you and your physician can discuss what types of treatments are available for you. Early interventions increase your likelihood of getting it treated before it becomes life-threatening.
  • You’ll know your family’s risk – Knowledge is power. BRCA testing provides vital information about your family’s risk of developing cancer. Sharing your results with your blood relatives can help them determine if they also need BRCA testing.

What Do Your BRCA Test Results Mean?

BRCA1 and BRCA2 testing can have three possible outcomes: a positive result, a negative result, or a variant of uncertain significance (VUS) result. Here’s what each result means:

Positive Result

A positive result indicates you have inherited a harmful mutation of either the BRCA1 or BRCA2 gene. Testing positive doesn’t mean you have cancer. It means you have an increased risk of developing certain cancers. A positive result can’t tell you when cancer will develop. After receiving a positive result, we recommend you get yearly cancer screenings.

What a positive result means for your family:

Even if you don’t develop cancer in your lifetime, you could pass your harmful BRCA1 or BRCA2 variant to your children. Each of your kids will have a 50/50 chance of inheriting it. The good news is that they’ll know that they also have to get tested, and there are many treatment options available.

If you have a positive result, your blood relatives may also have it. If one of your parents had/have a harmful variant, your full-blooded siblings have a 50/50 chance of inheriting it, regardless of your results.

Negative Result

A negative test result can mean several things:

  • If you’re getting tested because a close blood relative has a harmful mutation, and you tested negative, then you didn’t inherit the gene. Thus, your chances of developing cancer are similar to the general population.
  • If you are getting tested, but have no family history of a harmful BRCA1 or BRCA2 gene, a negative test result is considered uninformative.
  • You may have a harmful variant, but our current testing technologies can’t detect it

Variant of Uncertain Significance

If the test finds a change in BRCA1 or BRCA2 that’s not associated with cancer, it’s considered a variant of uncertain significance. We are still doing more research on these changes to learn about the risks they may pose. If you receive this result, we recommend getting tested regularly, so your physician can keep an eye on it.

Are There Any Risks to Getting Tested?

BRCA testing itself is relatively risk-free. You may experience some lightheadedness or bruising from having your blood drawn, but that’s about it. If you test positive or if your test is inconclusive, you may experience increased stress, anxiety, or depression.

Does Insurance Cover BRCA Testing?

Most insurances cover BRCA testing, but you should check with your insurance company just in case.

When Should You Get Tested?

Contact your physician about BRCA testing to see if they recommend it. If they do, you should be tested as soon as possible. If you test positive, you and your doctor can discuss treatment options to stop cancer in its tracks or prevent it from coming back.

If you’d like to learn more about BRCA testing, or to determine whether you should get tested, contact us  about scheduling a consultation.


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