Study highlights uncertain significance rates for BRCA 1/2/Lynch Syndrome testing
A presentation entitled, "Current Variant of Uncertain Significance Rates in BRCA 1/2 and Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) Testing", has been made at the European Human Genetics Conference in Nurnberg, Germany, that focuses on Myriad Genetics' variant classification process and variant of uncertain significance rate.
Researchers analysed 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 programme 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 per cent. Furthermore, the variant of uncertain significance rate for Lynch syndrome, a test analysing the MLH1, MSH2, MSH6 and EPCAM genes, declined to 6.6 per cent in 2012. The variant of uncertain significance for PMS2 gene test, also for Lynch syndrome, was 4.0 per cent.