Choices―and Uncertainties―for Women With BRCA Mutations

摘要

The thrill of identifying the BRCA genes came with a big dose of uncertainty where patients were concerned, "When the gene was first discovered, most geneticists were jumping up and down," recalls Daniel Haber, director of the cancer center at Massachusetts General Hospital in Boston. "But it wasn't clear what we were going to offer patients." A decade later, choices abound. But scientific understanding of the BRCA genes (see main text) still lags behind the yearning among carriers for lifesaving medical advice. The relatively small number of women who carry deleterious mutations in a BRCA gene―which produces a truncated BRCA protein―makes designing studies tough, say frustrated researchers. So although the gap has narrowed, clinicians and patients operate with sometimes scanty information.