Li-Fraumeni: My First Look

Posted on 11/28/16

Ever heard of the Li-Fraumeni Syndrome? A mutated TP53 gene? If you have it, you have a 30-40% higher risk of obtaining a second cancer after already having a rare one?

Welcome to my next curveball of 2016: Li-Fraumeni Syndrome.

My parents and I sat down with a genetic counselor to spell out our family tree and see what could have caused me to get epithelioid sarcoma, after my older brother had rhabdomyasarcoma. So we went at it- laid out my mom's sister and parents, my dad's 6 siblings and his dad's 6 siblings as well. Down the line we went to my brothers, sisters, and cousins. There was some cancerous oddities in there I didn't know about, not to mention people I've never heard of! The issue at hand that our genetic counselor brought to our attention was something called the TP58 mutated gene. In the case that I retain this messed up gene, I have a 30-40% increased risk to get another cancer in my lifetime. Not just the sarcoma I had already, but any cancer. This shit is nothing a 21 year old guy about to move to Los Angeles to pursue his career wants to hear. That's nothing a man with brothers, sisters, nieces, nephews (and possibley aunts, uncles, and cousins, too) who have a 50/50 chance of retaining it as well. Need another kicker? If my sister or niece were to have it (ie. women in general), they have a 90% chance of getting breast cancer in their lifetime.

This is nothing a 21 year old needs to walk around with on his shoulders- the ability to give my blood and figure out my own and my family's risk for cancers in their lifetime. It comes down to the Red Pill and the Blue Pill. Do you want to know if you have an increased risk for cancers in your lifetime, even though you might not get them? Or do you live as ignorance is bliss and don't worry about it until it presents itself? As I sit there being told all of this, I find it my duty as a Newbauer to know the chances of my fate. It's embedded into our mission as a family and gen eff. Knowledge is power, and we need to know our family health history. If I weren't to know the outcome of this gene, I couldn't forgive myself if I watched my sister or little niece get breast cancer in her lifetime.

We have capability for preventative measures, and early detection and knowledge is key. Otherwise I wouldn't be here.