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Breast Cancer, Five Years After BRCA1 and 2

My mother had breast cancer nine years ago, and ever since has been suggesting to my sister and me that we acknowledge that her cancer could have been genetic. Did we want to be responsible for our own health care and “do something” about it? Frankly, no. I wanted to forget what we had been through and get on with life. It came, we saw, we conquered. The end.

However, recent scientific discoveries are increasing our understanding of the development of breast cancer in Ashkenazi women such that we may now choose to find out about our own possible genetic pre-disposition. Knowledge being power, I am now ready to admit that I might be able to monitor the possible behavior of my genes.

Five years ago, scientists discovered three genetic mutations leading to breast cancer. Their prevalence in Ashkenazi women is a consequence of the history of the Jews of Eastern Europe who, through voluntary and forced breeding restrictions, caused the concentration of these mutations.

Today, there is a growing body of genetic counseling and testing available, including the New York Breast Cancer Study (NYBCS), whose mandate is to study the incidence, development, and possible prevention of breast cancer in Ashkenazi women. At the Third Leadership Conference on Jewish Women’s Health Issues sponsored by the American Jewish Congress and other Jewish organizations in New York this fall, Jewish women gathered for personal and scientific updates around the theme, “Five Years Later—What Have We Learned?”

Though the genetic mutation appears in only 2% of the Ashkenazi population, that number is significantly higher than in the general American public. The women at the conference expressed various reasons for deciding to use the new technology. One woman’s mother, sister and aunt had all died of breast cancer; although she had already decided not to have children, she wanted to know for sure whether she was a carrier. Another had had breast cancer and, for the sake of her daughters and her brother’s children, wanted to know if the mutations ran in her family. A common desire behind their decision to participate in genetic studies: an expressed wish to help fill in the genetic jigsaw puzzle and increase knowledge for the whole community. As of the September conference, the NYBCS had tested and counseled 870 women of Jewish ancestry; their goal is to test 1,000 women by 2001.

A person who is considering genetic testing (women and men can be carriers) can approach a counselor for a discussion of the issues and to better understand her own situation. There are some 2,000 genetic counselors, most of them women, practicing in the United States and Canada. They will discuss personal and family medical history and risk factors. They will talk about the woman’s risk of developing breast cancer and the likelihood of her passing the mutation to her children. Some questions that might arise: Do I want to know the results of this test? Do I want my children to know? What’s involved in getting screened? Should I consider prophylactic surgery? “It can be a very difficult decision to have genetic testing,” warns one genetic counselor, Karen Eanet, of the Harvey Institute for Human Genetics in Baltimore, “because it does not always give a clear-cut, yes-or-no answer.”

Fear of repercussions from insurance companies has kept some people from getting tested, although so far there appears to be no bias in the insurance industry. Nevertheless, some groups are pressing for laws against potential discrimination.

Thirty-six states have legal protections, and over the past five years there has been a drive to strengthen federal law. The Coalition for Genetic Fairness, Hadassah and other groups have been advocating for new laws, including “The Genetic Nondiscrimination in Health Insurance and Employment Act of 1999,” a bill making its way through congressional committees.

The information intrigues, excites and scares me. Do I really want to know what my genes may reveal? What are the implications for my future children? Like curly hair, or a preference for 7-Up over Coke, our genes define our lives while posing a latent threat precisely because they are unknown. The opportunity now exists to investigate the health of our inner wiring. I for one, am cautiously curious.