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Molecular Test Detects Risk of Breast and Ovarian Cancer

By HospiMedica staff writers
Posted on 25 Aug 2006
A new molecular diagnostic test detects rare, large rearrangements of the DNA in the BRCA1 and BRCA2 genes and will be performed for women with exceptionally high risk of breast cancer. More...


Mutations in the two genes BRCA1 and BRCA2 appear to greatly increase a person's chances of developing breast cancer, and defects in the genes account for the majority of both hereditary breast and ovarian cancers. BRACAnalysis, developed by Myriad Genetic Laboratories' (Salt Lake City, UT, USA), is a commercial test for hereditary breast and ovarian cancer that incorporates a thorough full-sequence analysis for gene-mutation detection. Myriad scientists discovered that an additional type of mutation, known as a large rearrangement, was not detectable by commercial DNA sequencing technologies but only by laborious, manual-research-based methods.

Using new bioluminescent assay in real-time (BART) technology for large rearrangement detection, Myriad offers an automated, robust test designed to detect all large rearrangement mutations in the BRCA1 and BRCA2 genes, even if they have not been observed previously. Beginning in August 2006, Myriad is conducting the BRACAnalysis rearrangement test on patient samples where the individual's personal and family history is indicative of an exceptionally high level of risk, but the sample tests negative for BRACAnalysis.

"We are very pleased to introduce an exciting and robust technology to detect these rare rearrangement mutations,” said Gregory Critchfield, M.D., president of Myriad Genetic Laboratories, Inc. "This work continues Myriad's leadership in providing the best testing possible for individuals at risk for hereditary breast and ovarian cancer through our gold-standard BRACAnalysis product.”



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