BRCA1:

A Breast and Ovarian Cancer Gene

A breast cancer and ovarian cancer gene We've grown up believing that we would get breast cancer. No woman in my mother's family has lived to age 50, and my aunt had ovarian cancer as well. This is not the future I want for my daughters.

Breast cancer is the most common cancer afflicting American women. Nearly 10 percent of the 184,000 new cases each year are related to inherited factors. Within the past 15 months, two major genes responsible for up to 90 percent of hereditary breast and ovarian cancers have been cloned: BRCA1 and BRCA2. Women with altered versions of these genes have a 70-90 percent risk of developing breast cancer over their lifetimes and an increased risk of ovarian cancer. In families with BRCA2 alterations, men also have an increased breast cancer risk. Another important gene, ATM, was also identified in 1995. It is very commonly altered in the general population and may confer an increased risk of breast cancer.

When my sister was diagnosed with breast cancer, it was a defining moment--the family decided to participate in a study and get the blood test that would tell us if we have this mutated BRCA1 gene. The testing is still so new, but with our family history, it was important to know one way or the other.

Identifying these remarkable genes is only the beginning. The next challenges include such basic questions as: What roles do BRCA1 and BRCA2 play in normal breast and ovary cells? How do they act to protect normal breast and ovarian cells from becoming malignant? How do they interact with hormonal and environmental factors to influence which cancers will develop and when? While we are learning important biological clues, we must also focus on issues of great concern to women and their families: How can we best identify cancers in at-risk individuals as early as possible, when the chances for cure are greatest? How can we prevent cancer from occurring in those found to carry cancer susceptibility genes? Strategies that successfully prevent cancers in these high-risk individuals should also be effective at preventing breast cancer in women with the standard risk. All American women have a risk of developing this common and devastating disease during their lifetimes.

I was absolutely flabbergasted not to have an altered BRCA1 gene. It was a huge relief, a tremendous weight off my shoulders...Now I know my risk is no different from what most women face. I'm more optimistic about my future, and though my young daughters haven't been tested, I have more hope that they also may be spared this shadow on their lives.

Genetic information may have powerful effects on individuals and families; on the way they see themselves and each other, and on the way the rest of the world (insurers, employers, educators) sees them. To permit the power of genetics to reach its full potential as a weapon against cancer, we must also address the ethical, legal, social, medical, and emotional implications of this revolutionary science.

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