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cancer update

My Genetic Testing Results & Experience Since Breast Cancer Diagnosis

Breast Cancer Genetic Testing Results

I have received information and materials from AstraZeneca. The opinions are my own. This is a sponsored post. Links will take you to a third-party website not maintained, sponsored, or reviewed by AstraZeneca.

I was diagnosed with breast cancer five years ago. If you’ve been a long-time reader of my blog and follower on Instagram, then you already know this. But I know there are some new faces here. And every time I mention cancer, I always get a “I had no idea!”. Ever since my cancer diagnosis, it has been a big part of my everyday living. It shaped how I have, and sometimes choose, to live my life managing the side effects of my cancer treatments. Of course, it deeply impacted the decision to grow our family. I worked closely with my doctor to understand the risks associated with getting pregnant and fortunately, as you all know, I am so lucky to say I became a mom this year!

I was diagnosed with breast cancer at the age of 27. In the breast cancer world, that is a very young age, as most breast cancers are diagnosed in women older than 50 years. At that time, everyone I knew that was diagnosed with breast cancer was over the age of 65. As someone who felt like their life just started, it was so hard to relate with others diagnosed with breast cancer at times. Especially when it came to cancer treatments. I quickly learned how aggressive breast cancer may be for young women. Which led my medical team to treat it very aggressively.

Why Genetic Testing Is Important After Cancer Diagnosis

My Genetic Testing Results & Experience Since Breast Cancer Diagnosis

Did you know that when breast cancer has spread beyond the breast to other parts of the body (metastasized), it can be treated but is considered incurable? Unfortunately, women who are diagnosed with early-stage breast cancer have a 1 in 3 chance of their cancer metastasizing and developing advanced breast cancer. This is why I advocate for myself. And work closely with my medical team whenever I have a question about my health.

Cancer Diagnosis and life after cancer

Overall, getting breast cancer at a young age is still very rare and more aggressive. In the US, a woman’s breast cancer risk in her 30s is about 0.5%, or 1 in 204. Hence, why not a lot of people hear about women in their 20s getting cancer. I’m just thankful that because of this blog, I am able to connect with many young women who can understand what I went through. And I am forever thankful for that friendship and support. It’s hard to go through this alone.

Diagnosed in my 20s

Because breast cancer at a young age is rare, my medical team informed me that I was a candidate for genetic testing. I currently have no family history on my maternal or paternal side for breast cancer or any kind of cancer. So my doctors decided I should get genetic testing to determine if I had inherited a gene mutation that may have put me at an increased risk for developing breast cancer.

Genetic Mutations I Was Tested For

The most common genetic mutations associated with breast cancer are BRCA1 and BRCA2. But there are other genetic mutations that may also increase the chances of breast cancer. Therefore, I was also tested for four other genetic mutations. Which means I was screened for a total of six gene mutations. I did genetic testing for BRCA1, BRCA2, PALB2, TP53, PTEN, and CDH1.

Breast Cancer Genetic Testing Results

Genetic Testing Results

So now I’m here to answer one of my most asked questions. Do I have a genetic mutation? Based on my genetic test results, it is (drum roll please…..) a ‘Variant Of Uncertain Significance’ (VUS) with PALB2. What does this mean? Essentially it means the association of my specific mutation with the risk of disease is not clear. After my test, I spoke with a genetic counselor who explained my results and what they mean. While the variant identified in my PALB2 gene is uncertain at the moment, future research may help identify more information about my results. Per my medical team, they are currently recognizing me as having no genetic mutations. Unless new research can help explain what the specific variant means.

There’s so much to know about gene mutations, genetic testing, and its link to hereditary breast cancer. In my opinion, through time, I think we will have more information and data about these specific genes as research progresses. Hopefully, we will know more about my variant in the PALB2 gene in the future. Based on my discussion with the genetic counselor, the more data researchers gather from genetic testing and cancer patients, the further science can help advance regarding how certain genes may impact cancer.

Importance of Genetic Testing

Although this was not my experience based on the results of my genetic test, about 5-10% of breast cancers are thought to be linked to known gene mutations inherited from a person’s mother or father. This is why it is so important to get genetic testing soon after you are diagnosed with cancer. If you are a cancer thriver reading this, you may have already experienced the genetic testing process. If you have not, I do encourage you to talk to your provider and medical team about genetic testing.

For people diagnosed with advanced breast cancer in particular, understanding your genetic results – including your BRCA status – may help determine treatment options. Knowing the results of your genetic test as soon as possible after diagnosis may help inform the treatment decisions you make in partnership with your medical team.

Cancer Diagnosis and life after cancer

Things to note about genetic testing

I do want to clarify some things about genetic testing.

When getting genetic testing due to a cancer diagnosis, this type of genetic testing is DIFFERENT from at-home ancestry testing. In most cases like mine, genetic testing following a cancer diagnosis is more involved and includes an FDA-approved genetic test. It is administered by a clinically certified lab. And they use DNA samples from blood or saliva to assess for an inherited cancer risk. For me, my genetic testing utilized my blood samples.

Prior to starting my cancer treatment, genetic testing was standard of care for certain patients. Understanding your gene mutation status may help you make decisions regarding your treatment options with your oncologist. Again, I encourage you to speak with your provider about genetic testing shortly after a cancer diagnosis.

If you are interested in learning more about genetic testing, please visit Cancer.gov.

Please note that I am not a healthcare provider. And I am speaking from my own personal experience, opinions, and beliefs. I do not make any claims about AstraZeneca products. 

xo RD

Comments

  4. Laura Leigh says

    this is so informative lady! thank you for sharing this. I truly feel I learned a lot and am walking away feeling more informed. hope more and more data + information comes out over the next few years for us all to better understand the disease and genetics.

    xo Laura Leigh
    https://louellareese.com

    Reply

  7. Stephanie says

    Gosh, I feel so ignorant right now for not knowing about ANY of this prior to your post. I had never heard of genetic mutation and didn’t know that it was something that should be looked into in this way. I’m really glad you were able to go through the tests, even if there wasn’t a TON of information that could be gleaned at this time. I hope that more research is done and you’re able to learn even more in the future!

    Reply

  11. Jill says

    It’s pretty amazing how far science has come over the past decade. I had genetic testing done after my cancer treatment. Now that my daughter is an adult she needs to make the decision if she wants to get tested.

    Jill – Doused in Pink

    Reply

  13. Willow says

    Loved your post!
    I was also diagnosed with Breast Cancer at 27. I have been watching your journey to motherhood as my partner and make the decision if we would like to begin that journey. I am nearly 5 years out from treatment and would have to go off of my T. It feels like such a heavy decision.
    I have a CHEK2 mutation and was triple positive. I am curious if you were also Estrogen and/or HER2 positive? Thank you for sharing your stories and making the journey of young survivorship less lonely.

    Reply

    • Hi Willow, thank you so much for opening up to me. I find it crazy that you were also diagnosed at 27! Getting off of treatment is for sure a heavy decision and it is one I contemplated for a LONG time. I became at peace with the decision last year even with the potential cons. I am also triple positive. And you are not alone. I wish I can make the decision easier for you, but what helped me is that I thought long term what I really want in life and if it is all worth it.

      Reply

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