Genetic Testing For Breast Cancer

Sep 27, 2020

While BRCA1 and BRCA2 mutations may increase your odds of developing breast cancer, your odds of having either mutation are pretty small. An estimated 0.25% of the general population carries a mutated BRCA gene, or about one out of every 400 people.

I didn't for one second imagine that I would be a carrier of the gene mutation. My paternal grandmother was the only one in my family, that I knew of that had been diagnosed with breast cancer. 

However, after my breast cancer diagnosis, I met with a genetic counselor to discuss family history. After hearing that both of my parents before they passed had had various dad, bladder and prostate, my mum stomach, liver, lung and skull, she (THANKFULLY) decided that my risk factors were high enough to warrant testing.

Because the overall odds are so low, most experts recommend that only people with a heightened risk get tested for BRCA mutations.

Likewise, insurance companies in the USA often only cover genetic counseling and testing for individuals who are at high risk.

A person could be considered at high risk for BRCA mutations if they have a family history of:

  • Breast cancer diagnosed before age 50.
  • Male breast cancer at any age.
  • Multiple relatives on the same side of the family with breast cancer.
  • Multiple breast cancers in the same woman.
  • Both breast and ovarian cancer in the same woman.
  • Ashkenazi Jewish heritage.

As you can see, I did not fit any of the traditional risk factors, which is why I highly recommend meeting with a genetic counselor, if you feel concerned.

There are also other gene mutations besides BRCA that could increase the risk of breast cancer. The most prominent of these is PALB2. As with BRCA1 and BRCA2, testing for other genetic mutations is recommended only if you are at high risk for that particular gene.

How To Get BRCA Genetic Testing

Genetic counseling is recommended for those who are interested in being tested for breast cancer gene mutations. You can talk to a doctor about getting a referral to a genetic counselor, who can help determine whether genetic testing would make sense based on family history and risk factors. 

Since many genetic tests only look for one specific gene mutation, the counselor can often help determine which mutations to test for.

The genetic test itself simply involves taking a small sample of blood or saliva, which is sent to a lab for analysis. Results can take several weeks or months.

There are also HOME TESTING OPTIONS available.

Genetic testing results are not always clear-cut  and therefore after receiving genetic test results, a patient should meet again with a genetic counselor to clarify what the results mean.

Whether the results are positive, negative, or ambiguous can impact many life decisions, and a counselor can help navigate those decisions.

Is Testing For You?

This is an important question, that only you can answer. I want you to know that there is NO right or wrong here, it's truly a personal decision.

I recommend asking yourself this questions:

  • If I find out that I have the gene, will it change how I live my life?
  • Will I adopt a preventative lifestyle?
  • Will I stress constantly about getting cancer?
  • Will I feel informed, so that I can be proactive with surgeries, or more frequent screenings?
  • Will I want to know if my children have it too?
  • Would I rather not know and feel less anxious?

It's OK to NOT get tested if you feel it will change your life for the worse. For me personally, knowledge is power and I knew I would take every precaution possible to not get breast cancer (or any other) again...and I help you do the same!


Further Reading:

Reducing Your Risk of Breast Cancer After a BRCA Diagnosis.

Your Monthly Breast Self-Exam Could Save Your Life!

BRCA - The Breast Cancer Gene


I'm always happy to chat and share my BRCA journey and the decisions that myself and my children have made due to their BRCA2 diagnosis, I truly understand that this is a life altering time and can feel extremeIy overwhelming. So I warmly invite you to SCHEDULE A TEA TIME CHAT HERE - It's free and we'll chat virtually over a cup of tea. xoxo Karin


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