So many mutants

This week I was given an opportunity. And not one I thought I would have in this capacity. Due to scheduling and sales made, my boss offered me the chance to go to the San Antonio Breast Cancer Symposium as a writer. This is a 7,000+ person meeting where all they do is discuss the latest and greatest in prevention, treatment and effects of a disease I feel I'm staring down on a daily basis.

One doctor said that oncologists should take a page out of the cardiologists' playbook. In cardiology, they treat high cholesterol or high triglycerides as if they are the disease.

"They're not," he said. "They're risk factors." But when those are treated by the doctor and understood by the patient, they can change the end result. Granted, there isn't as much understood about cancer as a whole or breast cancer specifically, as there is about our hearts and blood, but maybe it's coming.

The theme that had the biggest impact on me is what I heard again and again to think about breast cancer as many different diseases, not variations on one disease. I've known about the variants within breast cancer for a long time, knowing that triple negative is "bad" and hormone receptor positive cancers were easier to treat. At the conference, I heard multiple times that they're not just slightly changed tumors. They're really being looked at and treated as different diseases.

And part of the research that is guiding this shift is digging more and more into the genetics of breast cancer.

On my own time, I went to a BRCA-specific symposium where a presenter showed a pie chart looking at the mutations in breast cancer. BRCA1 and BRCA2 made up less than 25% of the pie. More than 50% were "variants of unknown significance."

It hit me hard that while it sucks that I'm in that 20%, it would suck way worse to be in that other half, to live in limbo not knowing what my chances were. I was thankful again that research efforts continue to be made to look at my genes and what can be done to "fix" them or treat them if they break before I realize. And that there is an acknowledgement of all the other mutations that do exist.

Another presenter said that we all have mutations in our genome. Some cause two eye colors or white patches in hair. Some cause cancer. And there are differences within known mutations that cause greater or lesser risks. Those are still very fuzzy but the theory is they could tell one BRCA1 carrier her chances are 5% but another's is 99%. Won't that be crazy?

At that symposium, there was a line wrapped around the hotel. There are physicians who care, who want to know more about us, and who want to best care for the men and women who come to them with genetic concerns. It meant a lot to see that.

So thank you to the doctors and researchers who continue to improve our chances, one study at a time.

One of the presenters showed this tool -- www.BRCAtool.stanford.edu -- to help BRCA patients estimate their risks dependent upon the actions they take with their personal care.

And this is what my risks look like. My personal plan is highlighted: both surgeries around 35. But you can see the estimates if I do nothing or if I were a "normal" woman without this mutation.

It's a learning tool and nothing is set in stone but it is interesting and worth thinking about. So I am grateful for the opportunity to think about these issues on another level and continue to educate myself.

 

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