Myriad myRisk® and
Myriad uses RNA analysis to reduce the rate of uncertain variants and provide the most accurate results for you and your patients
How does RNA analysis relate to hereditary cancer testing?
Variants in DNA can be predicted to impact splicing of RNA, which can in turn affect the function of proteins that are important to hereditary cancer risk. Functional studies using RNA can help determine whether the protein is likely to be significantly impacted by alternative splicing or splice defects and add valuable information about how the variant in DNA should be classified. The application of RNA analysis to hereditary cancer risk is at an early stage and care should be taken when using functional studies to classify or reclassify variants.1,2,3
Impact of Myriad’s RNA Analysis Program
Myriad has performed RNA studies on over 200 variants since 2015, which have impacted over 3,200 patients.
The majority (78%) of variant reclassifications changed medical management guidelines for patients.
- Nix P, Mundt E, Manley S, et al: Functional RNA studies are a useful tool in variant classification but must be used with caution: a case study of one BRCA2 variant. JCO Precis Oncol 4: 730-735, 2020
- Whiley PJ, de la Hoya M, Thomassen M, et al: Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing. Clin Chem 60:341-352, 2014
- Brnich SE, Abou Tayoun AN, Couch FJ, et al: Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Med 12:3, 2019