While I was recovering from the mastectomy, one of my sisters confided that she’d found a lump in her right breast. “There’s no way…” we both said. But she didn’t have the luxury of denial and within a week, she had her own diagnosis: more garden-variety breast cancer. When I was diagnosed, and then later when my sister was, the doctors spoke again of the likelihood of finding a genetic marker. They assured us that the process had become more sophisticated and refined since my father was tested. And so they took blood samples and scrutinized our DNA. And still found nothing.
During the years since, my family’s relationship to breast cancer has continued to puzzle doctors. I imagine we, like other families with multiple cases of breast cancer who don’t present any of the known genetic mutations, have been thrown into a file with a big question mark attached. Something is clearly going on deep within our shared DNA; no one could possibly say this was a coincidence. The question shouting from the silence of quiet moments was what was happening at a genetic level to make us such a fertile ground for cancer?
By the summer of 2011, it looked as if we might finally have a chance to find out. Steven Narod, Canada Research Chair on Breast Cancer and a professor at the Dalla Lana School of Public Health at the University of Toronto, was looking for a family with an unusual cancer history. A member of the international research teams that uncovered the BRCA1 and BRCA2 mutations in the 1990s, Dr. Narod remains at the forefront of efforts to decode the intricate relationship between genetics and cancer. In Canada, he seems to be the end of the road for families like ours – patients who present disturbing patterns and frequency of breast cancer that cannot be explained by known mutations.
Dr. Narod now had funding to map the entire genome of a family and scrutinize it for irregularities and mutations in an effort to uncover something new. He chose us. All he needed from us was a complete family history and blood samples. A a lab in Montreal would decode our DNA and he and his team would analyze it.
“This is good as it gets,” Dr. Narod told me when I met him to discuss the results in his office at Toronto’s Women’s College Hospital in late November. I think he was talking about my family – as research subjects, we offered a rich vein of information – but I also knew that whole-genome sequencing was about as good as things got, from a genetic research standpoint.
I had come to the meeting ready to hear that they’d found something to account for the breast cancer in our family; a marker of some sort that we would eventually be able to use to test my other sister, who was in rigorous screening and operating under the assumption she had a huge bull’s eye on her chest, and our children. So I was completely unprepared when he told me they’d run the analysis, and found nothing. “The possibility that these cancers are due to chance is zero,” he said. “We think there’s a gene there and not one we’ve seen before.” The challenge is in finding it.
The typical genome has about 20,000 variants, most are normal and define what make us unique (green eyes as opposed to blue, being taller than someone else in your family). But Dr. Narod and his team are looking for more harmful mutations. At this point, they’ve narrowed the field from 20,000 to 210. They are going to keep looking.
Sitting in Dr. Narod’s office, I realized how profoundly disappointed I was that they had not yet found something. I had, without ever really thinking about it, let myself hope that this research would provide absolute answers. But another thought struck me, as well. I was in the same position my father had been 15 years earlier. I had faced the worst in finding my own cancer, but new information could highlight new risks for my family: my kids, the three people I loved most in the world. My sister and her daughter. My mind turned to the question the genetic counsellors had asked us: What was I prepared to do with this information?
I don’t have any answers for this. Not yet. But I have agreed to Dr. Narod’s request that I meet him and his team of researchers in their lab in January, to participate in discussions that will lead to a more targeted analysis of our DNA. I know more now, and understand we still may not find what Dr. Narod believes is certainly there. But knowledge and time are the only things that make a difference in staying ahead of the devastating course of cancer. I want to take control of both. And maybe, just maybe, I’ll begin to fill in some of the dark spaces of my cancer, shedding just a little bit of light on what we don’t know. And sharing that light with others.