Li-Fraumeni Syndrome and the TP53 genetic mutation- WTF is that?

That was my exact response when the doctor first mentioned Li-Fraumeni syndrome. “WTF is that?” It can get really technical, so I am going to try to explain this in layman’s terms. Bear with me here.

A lot of people have heard of the BRCA gene, or “the breast cancer gene.” If you are a carrier of this genetic mutation, you are predisposed to breast cancer at a high rate. The TP53 genetic mutation, or otherwise known as Li-Fraumeni Syndrome, is basically the BRCA gene on crack. Like a lot of crack.

The TP53 gene is a tumor suppressor gene. A mutation in this gene gives people a much higher risk of developing various cancers. Specifically, it gives men a 70% lifetime risk of developing at least one cancer and women a nearly 100% chance, due to the high risk of breast cancer. Common cancers associated with the TP53 mutation are adrenal, sarcomas, breast, and brain cancer. Although, it doesn’t stop there. TP53 is also associated with lung, gastrointestinal, kidney, thyroid, skin … I think you get the point. It’s a lot of cancer.

I like to think of the TP53 gene as this little superhero that is hanging out inside of your body. When your cells decide to do something stupid, like form a cancerous tumor (can’t get much more stupid than that), TP53 comes in there like the little superhero he is and stops that shit from happening. Amazing, right?!

Well, not so amazing for me and my friends with LFS, because our superhero TP53 gene is actually more like a really lazy cop that is sitting there eating donuts and drinking coffee while watching the riff raff in the neighborhood unfold.

So, what does that mean for me? Unfortunately, I can’t fire or find a replacement for the lazy cop that is my TP53 gene. I am stuck with it for life. It’s now up to me to be proactive and vigilant to try to keep the riff raff inside of my body to a minimum and keep those cells on their best behavior, since I don’t have the luxury of a little superhero like the rest of you people do.

That being said, I hope to explore more on the topics of things I CAN control to try and keep the riff raff inside my body to a minimum. Diet, exercise, and proactive screenings – just to name a few. There are so many things that we can control that have a huge impact on our health and we don’t even realize it. We only get one body, so let’s treat it well!

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