Inherited Gene Mutations

Let's take a hot second and talk about good 'ole inherited gene mutations. Back in February, I was presented an opportunity to participate in a genetic study at Mayo. Given my personal history, they suggested I enroll to see if a) we could learn anything more about my specific cancer and b) if anyone else in my family could also be at risk. The idea behind it was to test me against a bunch of genetic markers for various types of cancers to see if I had any inherited gene mutations.

Generally speaking, I feel like there are a lot of feelings and conversations around genetic testing. There is a lot of weight in a test like this. A positive result in this type of test can mean you are more likely to have a specific kind of cancer. Some people take this as a diagnosis despite the fact that it isn’t actually one at all. They then live their life in fear of the day they think they’ll become a “cancer patient.”


On the flip side, a negative result to this test doesn’t necessarily mean you’re any less likely to have cancer someday. It can actually be a false sense of security in a way. It’s kind of crazy, but inherited genetic mutations really only play a role in 5-10% of all cancers. Most cancers start because of other factors – like exposure to sun for example 😉.


For me, the decision to participate in this study was an easy one. I’m not afraid of what the future holds because in my opinion, nothing can be scarier than the thought of reoccurrence. I am already forever labeled a “cancer patient,” and I’ll live my entire life afraid that Monster Melanoma will come back (assuming we get rid of it all now). A headache will never be just a headache for me probably ever again. If anything, this simple genetic test could get me some answers to all the “why” questions we’ve all been having.


So I did the test (duh). And I just got the results back a few weeks ago. To nobody’s surprise, I tested negative against 83 different genetic markers. Good news, right? I guess? For my family and blood relatives, sure. They’re not at risk for the same damn disease I have. And it’s good to know I don’t have any inherited gene mutations that might cause some problems down the line…


But, it’s frustrating in a way too. Being 29 years old and diagnosed with metastatic melanoma after supposedly clear margins the first time around begs a lot of questions. The biggest one being: WHY!? How can it be that a seemingly healthy person with little-to-no symptoms was on the verge of a death sentence? Although I didn’t really have any expectations with this genetic testing, I sort of saw it as an opportunity to get some kind of answer(s). If something came back positive, then maybe it would help explain something that that still doesn’t really make much sense at all.


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