Level of risk from breast cancer gene questioned

Counseling patients about the implications of predictive genetic tests may prove to be one of the trickiest aspects of treatment.

By Victoria Stagg Elliott, AMNews staff. Sept. 16, 2002.

The decision about whether to get tested for a genetic predisposition to breast and ovarian cancer is already a tough one for many women. And physicians say recent studies questioning the level of risk currently associated with BRCA1 and BRCA2 mutations will make it even more complicated.

The most recent study suggests that the design of the earlier studies, which focused on high-risk families, may be biased and that the risk for gene carriers without a family history may not be quite as high as the generally accepted 85%.

The families who participated in the initial research may have additional genetic or environmental risks that turn them into cancer clusters, and those risks may not necessarily be relevant to women with the gene but not the family history, according to the new study, published in the Aug. 21 Journal of the National Cancer Institute and authored by a statistician at Memorial-Sloan Kettering Cancer Center in New York.

"There's an impression out there that anyone who has the mutation has a very high lifetime risk of breast cancer, but, on average, among all mutation carriers, it's really much lower," said Colin Begg, PhD, study author and chair of the center's Dept. of Epidemiology and Biostatistics.

Testing and treatment for ovarian cancer is poor. Screening protocols for women who are at high risk of breast cancer are better but far from perfect.

And with clinical trials of pharmaceutical preventives still in the early days, some women have chosen the radical option of prophylactic removal of their breasts and ovaries rather than live with the anxiety. [...]