My Genetic Testing Story
Ever since I was diagnosed with breast cancer, I was an immediate candidate for genetic testing due to the age I was diagnosed with cancer. I was diagnosed at the age of 27. There was no obvious history of cancer in my family, but because I was under the age of 40, they think it is a possibility that a gene mutation runs in my family.
The reason why a gene mutation was a possibility is because it is rare to have cancer at such a young age. Cancer cells are abnormal cells and it happens through time and age. So when a young person is diagnosed with cancer, they question the genetic makeup.
Because I was diagnosed with breast cancer, the majority of people I have spoken to (non-medical professionals) assumed I have the BRCA1 or BRCA2 gene mutation. However, that is not true. As I mentioned in my initial diagnosis post, I do not have the BRCA1 or BRCA2 gene mutation. If you are new to cancer genetic testing, you are probably thinking, “Ok, what other gene mutations can cause breast cancer?”
Well, my genetic testing looked into 6 genes: BRCA1, BRCA2, PALB2, TP53, PTEN, and CDH1. As I discussed before, my genetic testing results showed that I have a variant in the PALB2 gene. After speaking to a genetic counselor, they concluded that my results were inconclusive (go figure). Even though I have a variant in the PALB2 gene, that variant wasn’t the same same variant as the known PALB2 gene mutation. Therefore, it means 3 things.
- There wasn’t enough data to prove that my specific variant in the PALB2 gene is a known gene mutation that causes cancer.
- It could just be a variant and therefore not have a relationship to cancer.
- After the collection of more data in the future, the variant could be determined with more certainty to be a gene mutation that does or does not cause cancer.
When I heard this, I was like omg really? Why is it that ever since I was diagnosed with cancer everything is pretty much inconclusive? Now that I have more knowledge about what is going with cancer and the cancer world, I have learned it is because there is not enough data. As you all may be aware of, looking at data and its trends is what helps us create a conclusion or an action plan.
What has been recently learned is that every cancer’s characteristics are unique and unique to that individual. So now, medical professionals have been doing more tailored cancer treatments. This is why someone who has the same EXACT breast cancer as I do (if you didn’t know this, breast cancer is a general term and there are actually several types of breast cancer – this is why it is a complicated disease) could have a very different cancer treatment plan than me. This is why we should never compare one cancer patient’s plan to another.
With young people diagnosed with breast cancer, they are also thinking about looking into the genealogy of this. Therefore, they are looking into more genes and their variants. They hope that once that is figured out, an even more tailored treatment, or even better, prevention can happen.
Although I did not go to this cancer center, one of the medical institutions that is a proponent for genetic testing is PENN Medicine Basser Center. They are the world’s first comprehensive center focused solely on the prevention and treatment of cancers associated with inherited gene mutation. As of now, their main focus is the BRCA gene mutation.
Their institution wants to raise awareness of hereditary cancer and that is why they started the #INVISIBLEGENES campaign. A few months ago, Levi’s partnered with them and 100% of the purchased cost of their Levi’s jean jacket went towards the funding of the #INVISIBLEGENES campaign. (Please note that the Levi’s partnership with this campaign is now over.) How awesome is that! I love it when my favorite brands give back to causes I feel strongly about and 100% IS HUGE!
If you want to learn more about Basser Center and their assistance with hereditary cancer, I highly recommend checking out their page. It is full of helpful information and resources.
I want to make a point that just because there is a gene mutation does not mean you are guaranteed to have cancer. It seems like the assumption is if you have a gene mutation, you have cancer. Yes, it may increase your chances compared to your average person, but it doesn’t mean you will get cancer. There are individuals who have gene mutations and they were never diagnosed with cancer. But I do think it is important to learn and understand more about your genes.