For some reason, probably having to do with the environment or diet or lifestyle, these days women with the mutation are getting the cancers at an earlier age than their mothers’ and grandmothers’ generations.
By: Masha Gessen
I spent the day of August 21, 1992, driving to a mountainous desert town whose name, in the scorching heat and fine dust, was a seductive mockery:
I woke up at four that morning, in the bedroom of a rental bungalow, with a wave of nausea pushing its way up to my burning throat. I stumbled to the bathroom, drank from the tap and threw cold water on myself, washing my face and head clumsily, then looked at my bloated face in the mirror and wondered how two margaritas could have done this to me. I went back to bed and next opened my eyes at a few minutes before seven, without a trace of a hangover but with a sudden wakefulness I could not fight. With hours to kill before the meetings began, I tried going out for a walk in the desolation of
A strange male voice answered the phone.
“Papa?” I asked, knowing that it was not.
“Hold a minute,” the man said nervously, and a moment later my father came on the line.
My mother was dead. The man answering the phone was a policeman who had come to fill out a report, which, as it turned out, was a necessary part of letting someone die at home.
My mother had been diagnosed with breast cancer two years earlier. By the following summer, it had already spread to her bones, and then it got to her liver and killed her.
My mother had last woken up at seven that morning — four o’clock in
The second time the physical relationship proved itself was on January 28, 2004, at a coffee bar in
BRCA stands for “breast cancer.” BRCA1 and BRCA2 are two genes known to play a role in the development of breast and ovarian cancer. The caller was a genetic counselor
Something had gone wrong between me and my mother, something so profound and so old that I find it difficult to describe. There was no tragic fight, no horrible misunderstanding. For as long as I can remember, we simply felt like strangers, not particularly intimate ones except by virtue of circumstance: We happened to live together. Nothing between us was ever unconditional, not even our physical proximity. I left home at fifteen.
My mother died before we had had much chance to claim our tiny islands of common ground: before I wrote anything she — also a writer and a translator — would have enjoyed reading, before I translated my first book, using what I had learned from watching her work, and before I too became a mother. When I started writing professionally, she said proudly, “My genes have won out.” I remember being surprised, and silently dissenting: I did not doubt my mother’s gifts, but I never believed they were also mine. I counted on more — and less. My mother was a more talented writer, a more diligent reader, and a more enterprising student. She was also handicapped by a desperate fear of people, and that fear could turn routine communication into a feat of heroism. She died at forty-nine, still gifted but not accomplished: Even if by external measure she could be considered successful, she felt anonymous and overlooked. I think that long-ago conversation with my colleagues in
I learned the basics of the story of my flaw. I carry a genetic mutation that kills women early — earlier and earlier with each generation — through breast and ovarian cancer. “My” gene was identified about two years after my mother died and ten years before I tested positive for the mutation. It seems to be a gene that works as a tumor suppressor — unless it is damaged, as it was in my mother’s case and is in mine. The hereditary roulette works as follows. For most people, the genome consists of one pair of sex chromosomes (XX in women and XY in men) and twenty-two pairs of chromosomes called autosomal, plus mitochondrial DNA, which is something of a separate story. The autosomal chromosomes contain two copies of every gene, one inherited from the mother and one from the father. The BRCA1 gene resides on chromosome 17. Those born with a mutation have one normal copy and one damaged one. A child born to a parent who has a mutation has a 50 percent chance of inheriting it. If a female child inherits a BRCA1 mutation, her lifetime risk of breast cancer may be as high as 85 percent, and the risk of ovarian cancer may go up to more than 50 percent. For some reason, probably having to do with the environment or diet or lifestyle, these days women with the mutation are getting the cancers at an earlier age than their mothers’ and grandmothers’ generations.
If a fetus inherits two bad copies of a BRCA gene — one from each parent — it will not be viable. A girl baby who is born with only one defective copy of the gene will not develop cancer as long as the other copy is functioning. But when the “good” copy also suffers a mutation — as, it seems, will happen in most cases — cancer will develop, and the disease may be more aggressive than in people without such mutations. A male child with the mutation may also eventually develop breast cancer, but this happens far less frequently. The risk of cancer goes up steadily with age: about 20 percent by age forty, 40 percent by age fifty. Rarely do women under thirty develop the cancer, and the chances of cancer only pass the 50 percent mark at around the age of fifty-five. So throughout human history, a woman would most likely become sick after she had given birth to and raised her children. For modern women, particularly western Jewish professional ones who have children later, the mutation may bring cancer before the child-rearing years are past.
Copyright Â© 2008 by Masha Gessen
About the Author:
Gessen is a journalist who has written for Slate, Seed, the New Republic, the New York Times, and other publications. Her latest book is Blood Matters, Published by Harcourt, April 2008. She is also the author of two previous books.