By REBECCA CHRISTIE

A team of University oncologists helped contribute to a recent key finding on the forefront of breast and ovarian cancer research.

While scientists at the National Institute for Environmental and Health Sciences did the bulk of the work to locate the gene, which causes the two types of cancer in some families and is called BRCA1, three Medical Center physicians have coauthored one of the three articles that will be published in an upcoming issue of Science.

Led by Dr. Roger Wiseman, NIEHS' research studied women in eight families with a history of breast and ovarian cancer, which usually developed when the women were in their 40s. After analyzing the genetic information in each family's chromosomes, researchers found each family shared certain mutations that led to the onset of breast cancer.

Earlier research in 1990 had shown which chromosome contained the defective genetic information.

"There's been a pretty mad race by several groups to try and identify the particular gene," said Dr. Andrew Berchuck, an associate professor of oncology at the University and an author of the study.

Once isolated, the particular gene was named BRCA1 for "BReast CAncer 1." A BRCA2 gene is known to exist somewhere on a different chromosome, but its exact nature and relation to the disease is not yet known.

The Duke team worked with patients who had sporadic or common breast cancer, which accounts for 95 percent of all breast cancer patients, said Medical Center surgeon Dr. Dirk Iglehart, an author of the study. They had hoped to find BRCA1 to be a factor in these cases as well as in patients with a family history of recurrent breast or ovarian cancer.

Instead, they found BRCA1 to be a factor in only about 5 percent of these cases.

The research did expose other genetic alterations in one third to one half of these cases, and further research will focus on these variations, Berchuck said.

Breast cancer is the leading cause of death for women between the ages of 40 and 60, Iglehart said. Along with colon and lung cancer, breast cancer is one of the largest overall killers of women, with 180,000 new cases diagnosed every year and about 16,000 deaths, he said.

Ovarian cancer is the fourth most lethal cancer, Berchuck said. Although there are only 20,000 to 25,000 new cases diagnosed each year, the mortality rate can be as high as 60 percent because it is difficult to accurately and quickly diagnose it, he said.

Tests for the BRCA1 gene will not immediately be available in many places, as there is currently no efficient way of locating the gene short of sequencing the entire chromosome, Berchuck said. Sequencing an entire chromosome is far too cumbersome a process to be used a means of diagnosis.

Doctors will need to carefully discuss the ramifications of either a positive or negative result before testing occurs.

"One hopes that with health-care reform these issues will be incorporated somehow," said Jeffrey Marks, a faculty member of the University's Comprehensive Cancer Center and an author of the study.

Post-diagnosis counseling is an area genetic research is bringing to the forefront.

Insurance companies may not wish to continue covering a woman who has been found to have the susceptibility gene or may consider it a pre-existing, uninsurable condition, said Barbara Rimer, director of the cancer prevention, detection and control research program at the Comprehensive Cancer Center and chair of the National Cancer Advisory Board.

"Our diagnosis is ahead of our treatment," Rimer said, commenting on the fact that there are no foolproof surveillance or treatment methods yet. "We need to sit down with women and set up a process of truly informed consent."

Still, experts in the field say the genetic advances will prove invaluable in providing better care. "I think [the results] are really astounding," said Dr. Henry Lynch of Creighton University.

Although enthusiastic, Lynch emphasized the need for increased support services. "They will provide us with a tremendous responsibility to counsel patients."