Greetings from CancerLand: Deleterious Mutation

Alysa Cummings
The Abramson Cancer Center of the University of Pennsylvania
Last Modified: August 6, 2008

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Deleterious. Such a musical five syllable word. I love language that comes in every size, shape and sort of sound byte and do believe that this is one of those words that I could almost sing.

I tentatively say it aloud: deleterious. Such a lilting series of sounds that roll off the tongue – a word quite honestly that at first doesn’t seem very scary at all. But the dictionary definition suggests otherwise: injurious to health, harmful, derived from the Greek - a word meaning ‘destroyer.’

I am sitting in the doctor’s office in a chair facing her desk. Here’s your copy of the test results, she says. I look at what she has handed me and see the word deleterious sitting right next to the very threatening noun mutation and together those two words shout at me in a loud, ugly way. They are just two words, but together they form a nasty phrase that accurately describes me, who I am, who I’ve suddenly become, my new CancerLand identity, circa July 2008.

Deleterious mutation. These are the words printed on a navy blue pocketed folder labeled Understanding Your Genetic Test Result that my doctor has just handed me. I can’t help but notice that the BRAC Analysis folder is illustrated with a photograph in the upper left corner of an extremely sane looking, quite attractive middle aged woman; she wears a pale purple sweater set that brings out the blue of her perfectly made up eyes. . She may be my new best friend at some point in the near future, a potential role model perhaps, the person I might hope to one day see looking back at me in the mirror now that I know what I know. But she is definitely not me, not now. At this moment in time we have absolutely nothing in common, not one single solitary subject to chat about.

I think back to my last appointment with this doctor. How we chatted briefly after the physical exam. I was casually handing over my co-pay at the front desk when she suggested that I get genetic testing done. I wasn’t the least bit interested. I’m almost ten years out from diagnosis, I said. I have no children. There’s no family history. Still the doctor insisted that it was in my best interests to get the test. The results will impact how all your doctors follow you, she argued. Then she told me that the lab tech was great with ‘tough sticks’ like me and had time right now to take my blood. I reluctantly agreed and moments later surrendered my left arm. It is now three weeks later and the results say that I have tested positive for the BRCA2 mutation. On the paper clearly marked PATIENT COPY under the interpretation column there’s that word again, this time in heavy bold print: deleterious.

The doctor looks through papers in my file as she suggests some possible next steps. Remind me…which breast did you lose? she asks, as if I have inadvertently misplaced a set of car keys and for some reason can’t get my hands on them. Right breast, I reply. Remind me, she repeats…you’re the one who had the TRAM, right?

No. I’m the Lat Flap, I say, wondering how much effort it would have taken for the doctor to review my file before this meeting began. Then I ponder who the other patient is that she has confused me with. I find myself thinking about this other woman, this other breast cancer survivor, this woman who had a TRAM flap reconstruction, who probably wouldn’t appreciate being confused with me either. I wonder if this other patient ever becomes impatient with the doctor, or on the verge of anger – feeling the way I’m feeling right now. This is becoming quite a deleterious genetic counseling session, I think to myself, that is starting to get on my very last nerve.

The empathy that I had previously admired in this doctor is sadly lacking today. And that’s a damn shame because some TLC would’ve made this particular CancerLand chapter a lot easier to handle. One option is to have a second mastectomy, she begins and starts quoting the statistics. I see the doctor’s lips moving as she forms the words and can’t help but mentally hit a mute button to silence her. Not an option, I interrupt. I don’t think the ultimate benefit outweighs the risks associated with another surgery, not to mention the emotional trauma of a second mutilating procedure. Plus, don’t we have lots of ways to maintain close surveillance on my remaining breast? I resist the urge to cover my left side with both hands; how can I possibly explain how incredibly protective I am of my remaining breast? Am I a fool to expect that a woman doctor might totally get that?

That’s true, she says, I understand, she says, but honestly I don’t think she truly understands at all. The two breasts she was born with are still where they are supposed to be, on her chest, front and center, projecting symmetrically with an attractive bit of cleavage at the spot where her silk blouse is stylishly undone an extra button.

Well then, she continues, you should think about having your ovaries removed to minimize the risk of ovarian cancer. The doctor quotes another bunch of statistics just then and I feel my body start to go numb in places. There must be a shocked expression on my face because suddenly the doctor tries a more personal touch. You know, she begins, I met with a group of my girlfriends last month in north jersey and we were talking about breast cancer. The statistics say ‘one in eight’ women will get the disease. We looked around, counted heads and realized that it could be one of us. Would you believe that I just heard that one of my friends from that very group of ladies that met that day was just diagnosed? Stage two breast cancer with lymph node involvement, she says grimly.

Why is she telling me this story? I am puzzled. I sense the doctor’s palpable relief that she in fact was not the one in eight in her circle of girlfriends. So I have to wonder has this doctor has ever had a sick day in her life? Or a misfortune more traumatic than a broken nail or a flat tire? I can’t control these ugly thoughts that keep popping up and bumping into one another in my mind as I look at my doctor. But I exert enough self-control to not say a word out loud; I truly don’t know how to respond. What great insight or meaningful life lesson can I come up with after hearing about her friend? And then in a flash it all becomes crystal clear what her anecdote says to me in the most personal way possible: I am in fact the loser in the genetic sweepstakes. No question. The Big Loser. I am the one in eight.

The genetic testing results are in fact a gift that has finally answered the big question, ‘how did I get breast cancer?’ That has been an unresolved issue flying around my head since 1998. Now I know what I know: it wasn’t a neighborhood golf course on Long Island sprayed with DDT in the fifties that was to blame. It was a gene (bad, bad, deleteriously mutated gene) that turned on and started a tumor growing. I can be as angry as I want to be – and it still won’t change a thing. The genetic testing yields data and it would serve me to accept that data for what it is. I will sign up for lots of office visits every year with at least three different doctors and put up with endless numbers of tests rather than hop up on the table for more surgery; that’s my choice and it feels right for me right now. (Hey, if you ask me, calm acceptance feels better than righteous anger any day of the week…)

As these thoughts spin through my head, suddenly I also realize that I am this doctor’s last patient on a Friday afternoon in the summertime and our counseling session is over. I will call your breast surgeon. But not today. Most folks are already headed down the shore for the weekend, the doctor says. And that message travels across her desk to me loud and clear. If I would just get up and leave, she would be moving in the very same direction.


News
Inherited Mutations Common in Triple-Negative Breast Cancer

Dec 10, 2014 - Almost 15 percent of patients with triple-negative breast cancer unselected for family history have deleterious mutations in breast cancer susceptibility genes, according to a study published online Dec. 1 in the Journal of Clinical Oncology.



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