NCI Scientists Find Specific Mutation in the Breast Cancer Gene

BETHESDA, Md-Scientists from the National Cancer Institute havefound a specific mutation, 185delAG, in the breast cancer 1 gene(BRCA1) in almost 1% of DNA samples from a study group of EasternEuropean (Ashkenazi) Jews. This is the first time that scientistshave been able to show that the gene mutation is present at measurablelevels not only in high-risk families but also in a specific groupof the general population.

At a press conference, Donna Shalala, secretary of the US Departmentof Health and Human Services, said that "this exciting findingshould allow us to move rapidly toward our goal of identifyinghigh-risk women and helping them to prevent breast cancer beforeit strikes."

The study, an international collaboration between the NationalCenter for Human Genome Research (NCHGR), the NCI, the SarettInstitute (Jerusalem), and the University of California, San Diego,involved 858 unrelated Ashkenazi Jews from the United States andIsrael whose family or personal cancer histories were not known.

Eight (1%) of the individuals tested were found to have the 185delAGmutation. This rate of alteration in the BRCA1 gene is three timeshigher than all BRCA1 alterations combined in the general population.Scientists did not find the alteration in 815 other samples fromindividuals not selected for ethnic origins.

Dr. Jeffery Struewing, lead author of the report (Nature Genetics,October, 1995), cautioned that the results were too preliminaryto recommend immediate BRCA1 testing for the nation's 5.5 millionAshkenazi Jews. However, NIH has announced plans to launch a seriesof clinical studies to evaluate cancer risk in Ashkenazi Jewsbearing the mutation.