BRCA1: Testing and Juicy Rationalizations

Not long after my 50th birthday, the one where AARP comes after you to join their cadre of old farts, I got the test results.

“BRCA1 – Positive for a deleterious mutation.”

For the nearly fourteen years that had passed since I had breast cancer at age 36, I thought of myself as one of the lucky ones. One who did not die. One who remained in remission. Statistically cured. Fewer than 10% of all breast cancers diagnosed in the U.S. each year occur in women under the age of 40. Breast cancer in young women is often more aggressive and biologically different from the disease in older women. Survival rates are lower. I had managed to put both fingers in my ears, sing “La La La” in a very loud voice, married the love of my life, chucked the corporate world, bought a vineyard in Argentina, tried to change careers, wrote a book and struggled in my survivor’s shoes as best I could.

Life goes on.

Once I opened the Pandora’s Box that is BRCA testing there was no going back to the old ways.

In reality, we are all mutants in one way or another. Little snippets of our magical DNA replication processes get messed up all the time and it does little or no harm to the big picture. BRCA mutations are different. I knew what it meant, had done the research, discussed it with my spouse and various medical professionals before I tested and yet, the knowledge that I was genetically flawed came as a blow.


I was quite convinced the test results would be negative.

Where did this fantasy come from?

My relative diagnosed with ovarian cancer four years earlier had done the test. Her results were negative. A second relative, one who was free from cancer, also did the testing with a negative result. I rationalized that our cancer-prone family must have some other problem besides BRCA defects.

A new wrinkle emerged once I delved into the complexities of the test itself. The BRCA test is not a monolithic thing. It is many shades of gray. My relative with ovarian cancer had only tested for one teeny sliver of genetic mutation possibilities. I had tested for the full meal deal. Doctors, insurance companies, patent law and the morass that is the U.S. Health Care System all have a role in who decides, who pays and who gets screwed over when it comes to BRCA testing.

To test or not to test? When to test? If you test, what to do with the results? No easy answers exist, even for those who test negative. Not to mention a whole raft of mutations that are of “uncertain significance.”

The BRCA test did not change who I was. I had been BRCA1 positive from the moment my life began. What it did was quantify my risk for more nasty cancer adventures in gory detail. The numbers were big, ugly and made my fourteen cancer-free years seem like a gift.

If you went to a dinner party where the hostess served up a large portion of dog poo for dinner, would you accept another invitation to dine at her table? I decided to avoid the dog poo queen (cancer) if I could. Modern science had provided me with the information right down to the single codon in my DNA that was defective. I was determined to fix this before my dumb luck streak ran out.

Jeff Goldblum’s character in the 1983 movie The Big Chill: “I don’t know anyone who could get through the day without two or three juicy rationalizations.”

Just a little snip, snip to remove those cancer-prone parts of my anatomy and I’ll show my BRCA1 gene that opening Pandora’s Box was a good thing. Knowledge is power and all that junk. I am in control of my own destiny. The force will be with me. Yes, my brain was and is, filled with juicy rationalizations.

This entry was posted in Cancer.

One comment on “BRCA1: Testing and Juicy Rationalizations

  1. […] the meantime, I continue to imbibe and enjoy the juicy rationalization that perhaps, being a mutant of the BRCA1 variety is not such a bad thing, at least when it comes to […]

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