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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.
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.
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.
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.
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.