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Jewish Women Carry Breast Cancer Genetic Mutation

By Robert Cooke, Earl Lane and Jamie Talan

A recent discovery that 1 percent of Ashkenazi Jews carry a genetic mutation that increases their risk of breast and ovarian cancer could eventually lead to the first widespread screening of an adult population focusing on genetic risk levels, scientists said Thursday.

But experts agreed that possibility is still a ways off. "Simply stated, we just don't know enough" about the mutant gene or its role in causing cancer, said Francis Collins, director of the National Center for Human Genome Research.

Because of this, Collins said Jewish women should not immediately seek private genetic testing for breast cancer.

The finding - first reported by Newsday Aug. 30, and announced officially Thursday by the National Institutes of Health - has already touched off strenuous efforts to see exactly what the risk is, and how women can be protected from increased risk, officials said. At least three studies are starting in the New York-Long Island area, and others are planned in Washington, Montreal and Boston.

More than 60 mutations have been identified in the cancer-causing BRCA-1 gene since it was discovered last year. But recently one specific mutation was identified that is seen almost solely in Jews whose families came from central and eastern Europe, the Ashkenazim. In the general population, the mutant gene is thought to cause up to 5 percent of breast cancer cases.

Collins said the discovery suggests that "there are 70,000 American Jews who are likely to have this (gene) alteration" among the 6 million to 7 million Ashkenazi Jews in the United States.

Collins and his colleagues estimated that the mutation could be causing as much as 16 percent of the breast cancer and 39 percent of the ovarian cancer in Jewish women under age 50. Other top scientists - including Steven Narod in Montreal and Mary-Claire King in Seattle - say the numbers may be lower.

One of the studies to take place in New York is a collaboration between Dr. David Smotkin, a gynecologic cancer specialist at Long Island Jewish Medical Center in New Hyde Park, N.Y., and Narod, a cancer geneticist at McGill University in Montreal. They will be looking at ovarian cancer patients of Ashkenazi descent. Their goal is to track the gene among 300 women. It was Narod who noticed the link between the mutation and Ashkenazi Jews.

A large "snapshot" study in the Washington, D.C., area is being set up by the National Cancer Institute, aiming at contacting 5,000 Jewish people at random. Blood samples will be taken beginning in October, and the study should be done by next March.

In Boston, Judy Garber, director of the cancer risk and prevention program at the Dana-Farber Cancer Institute, is hoping to enroll 150,000 in the local Jewish community.

Reaction to the discovery among people deeply concerned about breast cancer was mixed. Joan Flamenbaum, vice president of the Long Island, N.Y.-based group called 1 in 9, commented, for example: "Any research is wonderful, but we need to keep this in perspective; it affects only a small percent of women."

Laura Lesch, a genetic counselor at the State University of New York at Stony Brook, warned that "people have to know (in advance) what it means to have this information. It may affect their insurability. Who will have access to this information? What's more, it affects others in the family: children, siblings, cousins."

Lesch also noted, "There are no rules to follow yet."

Dr. Ann Willey, director of laboratory quality certification for the New York State Health Department, noted that even when a test for BRCA-1 becomes available commercially, it could be some time before laboratories are ready to use it. In fact, she said, only two laboratories - one in Utah and another in Maryland - have begun the application process to do BRCA-1 testing.