JB: Taking the test of a lifetime

"I come from a family with a history of breast cancer. I have had yearly mammograms since I was in my early twenties," recalls JB. "My mother and an aunt had survived their bouts with cancer at ages 38 and 44, but my sister died from the disease at the age of thirty-three. As a result, my mother reminded me until her dying day to check myself and refrain from this or that which scientists believed had a link to breast cancer."

JB never obsessed about the possibility of getting breast cancer nor did she live in denial. As she grew older she paid attention to articles in the newspaper and began clipping them. She learned from them that she also had other factors which placed women in the higher risk group such as early menses, never having given birth or breast fed ( her children are adopted), and a stressful lifestyle. "Though I did not live in fear, I believed that I would probably develop breast cancer one day," said JB. "I considered and rejected the idea of prophylactic mastectomies as that option still does not preclude contracting breast cancer as all breast tissue cannot be removed and with prosthetics, detection would be more difficult. But I watched my diet, developed my exercise program, kept my win intake low and checked myself when I remembered."

As she clipped articles, she learned that some breast cancers are associated with inherited mutations. She suspected that one of those culprits was lurking in her genetic code. Then she spotted a notice hanging in her gynecologist's office looking for women with a family history of breast cancer to be tested for these gene mutations. "I promptly called," JB said. "Certainly I wanted to participate in this study-yes, in order to contribute to cancer research, but also I needed to do this out of my own curiosity-to know what I'm up against." She calmly filled out questionnaires and responded to inquiries relating to her anxiety level about the study and cancer itself.

The study required the patient to have two or more affected relatives and the lab needed a blood sample from one of them. Her aunt in Minnesota had had breast cancer and graciously agreed to provide a blood sample. Her aunt's blood was tested to see if she carried the genetic flaw implicated in the development of cancer. She did. Then JB's blood was tested to look for the same mutation. Starlene Loader, Senior Technical Associate, contacted JB's aunt by phone and reported first that her aunt did indeed bear one of the mutations implicated in breast cancer. Then she turned to JB and told her that she did not have the mutation. "My first thought was, boy, do I wish Mom were here. I wish I could tell her. I wish she knew that she doesn't have to worry anymore," remembered JB.

"After hearing that I did not carry the gene mutation I asked Ms. Loader what difference this made for my life. She said that it meant that I had the same lifetime risk of breast cancer as the rest of the population, namely 12%, instead of the 85% risk for those carrying one of these gene mutations. She also said that I no longer had to subject myself to yearly mammograms until I turned forty. I found this news quite amusing, as my fortieth birthday was in three weeks! But the news was a great birthday gift!"