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Radio Personality Ken Dashow
by Bernie Langs







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In Search of the Mutant Gene Print E-mail
By Carly Gelfond
December 2010

On a Monday afternoon two months ago, I sat in a cushioned chair before a gray-haired doctor who folded his hands on the desk in front of him. I crossed my legs. On my lap I held a notebook (mostly for show). I also held a stapled packet of papers that declared my “results.”

I was here because my genetic background had been dotted with red flags.

Next to me sat another doctor, a young dark-haired woman I had met with previously. Several weeks prior, we had sat together just down the hall, the only occupants at a long conference table. From a distant vantage point, we might have looked like high school girls reading magazines together. But in fact, we were discussing the reasons why it was recommended that I undergo genetic testing for mutations in BRCA1 and BRCA2, two genes currently known to be involved in the development of hereditary breast and ovarian cancer.

A note about me: I was always a deferrer of decisions, the diner who needed one more minute with the menu. I knew that because of my family history, I had an elevated risk of developing the disease. My mother was diagnosed with breast cancer in her early 40s and died shortly thereafter. I was always told I needed to be vigilant. But since I was still young (and isn’t it a privilege of the young to live just a little while in ignorance?) that advice had always come in the form of doctors handing me self breast exam pamphlets, and casually recommending that I start going for mammograms earlier rather than later. This was advice easily put off. The subject of genetic testing had even come up in discussions with other family members, but like every other precautionary action, there was never any big hurry.

So had it not been for the little lump I accidentally found while getting dressed one morning, whose detection catapulted me to the front of the line at the internist, and from there to the imaging center followed by the breast specialist followed by the genetic counselor, I probably wouldn’t have gotten to any of those places of my own accord. The lump turned out to be nothing to worry about, but rather than tell me congrats, go have myself a celebratory margarita, the breast specialist suggested I meet with someone who would discuss with me the possibility of genetic testing.

When I sat with the genetic counselor that day at the long conference table on my first visit, we discussed my risk factors. There was my mother’s early death from breast cancer. There was the fact that I was of Eastern European Jewish descent. For women with this ethnic background, I was told, three specific mutations within the BRCA1 and BRCA2 genes were known to occur more frequently. Also, my father currently had prostate cancer and while no additional relatives were known to have cancer of any type, this didn’t mean much because I was an only child and my extended family was rather small.

So, what the genetic test could tell me was whether or not I had inherited mutated genes. The doctor explained to me that BRCA1 and BRCA2 are part of a gene class referred to as “tumor suppressors.” In a nutshell, that means that these genes aid in helping a cell’s DNA remain stable and prevent cell growth from getting out of control. When these genes are mutated, they often lead to the development of hereditary ovarian cancer and hereditary breast cancer. These mutations also increase a person’s risk of developing these diseases earlier in life.

If the test came back positive, this would be the equivalent of quantifying to a much more specific degree than before what my “elevated risk” actually was: between the ages of x and y, the likelihood that I would develop breast or ovarian cancer could be calculated into a percentage. At whatever age that percentage became uncomfortably high, preventative surgery—a hysterectomy, opphorectomy, and/or mastectomy—would be something I should consider.

If the test was negative, this would mean that my risk of developing breast or ovarian cancer was probably the same as that of people in the general population. This was not to say, however, that I could be sure I carried no genetic mutations, because the chance still existed that there was an entirely different mutation or gene, not yet known to the medical community, that was responsible for my family history.

Like an oracle, these people had the capability of accessing information about my future in their hands. But to access this information would mean having to cope with the results, whatever they might be.

Looking back on that day at the conference table with the young genetic counselor, I don’t think I was ready on an emotional level for what the results had the potential to imply. (Another note about myself: when faced with a decision I must make, I close my eyes and jump.) For instance, I’m not sure I was ready to reconcile the possibility of electing to have my ovaries removed with the imperative that if I wanted to bear my own children, I would have to do that sooner (as in, much sooner) rather than later. I’m not sure I was ready to confront the whole bucketful of decisions I would need to make if I were the carrier of mutant genes.

Luckily, I didn’t have to be.

In his office now, several weeks later, the gray-haired doctor looked at me kindly, and asked if I understood the results.
No mutation detected. I understood that this was a gift.