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Myriad Genetics, Inc. (MYGN) Presents Variant of Uncertain Significance Rates at European Human Genetics Conference 2012


6/25/2012 10:08:30 AM

ZURICH, Switzerland--(BUSINESS WIRE)--Myriad Genetics GmbH announced today that a presentation entitled “Current Variant of Uncertain Significance Rates in BRCA 1/2 and Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) Testing,” was presented today at the European Human Genetics Conference in Nurnberg, Germany. The study highlights Myriad’s best-in-class variant classification process and variant of uncertain significance rate. Researchers analyzed the variant of uncertain significance rate for the BRACAnalysis® test (BRCA 1 and BRCA 2 genes) test as well as the COLARIS® test (MLH1, MSH2, MSH6, PMS2 and EPCAM genes). From 2002 to 2012, Myriad’s overall uncertain variant rate decreased due to significant investments made in the development and application of improved processes and statistical techniques and the implementation of a targeted program designed to gather data on family members. Across all ancestries, the BRCA 1 and BRCA 2 variant of uncertain significance rate declined from 12.8% to 2.9%. Further, the variant of uncertain significance rate for Lynch syndrome, a test analyzing the MLH1, MSH2, MSH6, and EPCAM genes, declined to 6.6% in 2012. The variant of uncertain significance for PMS2 gene test, also for Lynch Syndrome, was 4.0%.

Read at BioSpace.com


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