Renee Gentzel

Cancer sure knows how to make a person feel special. It definitely doesn’t treat you right, but it certainly gives one a boost of uniqueness.

Today, I received the full panel of my genetic and genomic analyses. Right now, you may be asking yourself, what’s the difference between the two? Well, below are the Wikipedia definitions, followed by what they mean in the real world.

Genetics: Branch of biology concerned with the study of genes, genetic variation, and heredity in organism. Translation: What the hell did I inherit from birth, and what did I curse my child with? Fortunately for me (and for Hannah!), my genetic profile was spotless. I have no inherited mutations that predispose me to cancer…..so…..it was the evil environment that did me in!

Genomics: Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. Translation: Which DNA rules the tumor cells decided to break in order to run rampant through my body.

(Here’s where I’m special.)

The biggest finding was that my tumor has the BRAF v600e variant. This is a big, bad wolf in the world of colon and melanoma cancers. Historically, for colorectal cancer (CRC), this mutation is only in about 10% of patients. However, I fit its demographic of being more prevalent in women (check!), right-sided primary tumors (check!), large tumors (check!), and in women over the age of 70 (aspiring to be!).

Bad News: BRAF v600e is known to be aggressive in growth and more resistant to traditional chemotherapies.

Good News: SCIENCE! This past year (2019), a triplet of immunotherapies was tested (called the BEACON regiment) and found to be effective for BRAF v600e CRC patients! See below for a diagram on how the triplet takes out the effect of this BRAF mutation, counteracting its uncontrolled growth signaling. Even better….MORE targeted therapies are in clinical trials for this mutation! YAY! I heart science.

In the BEACON CRC trial, researchers used three drugs to target different parts of the same communication pathway in cancer cells with a mutation in the BRAF gene. Credit: National Cancer Institute/Kelly Crotty

Will post more tomorrow regarding updates on my chemo treatments and the current forecast of my journey.