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Myriad Genetics 'riskScore' Tool Quantifies Women's Risk for Breast Cancer

Wednesday Oct 4, 2017

Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, has launched riskScore™, a new clinically validated precision medicine tool to enhance its myRisk® Hereditary Cancer test. riskScore quantifies a women's risk of developing breast cancer by combining genetic markers throughout the genome with her family and clinical history.

"We have known for some time that there are other genetic and clinical factors that can modify a patient's risk for breast cancer; however, this is the first time that this information has been rigorously validated to guide patient care," said Mark C. Capone, president and CEO, Myriad Genetics.

"As the pioneer in hereditary cancer research, Myriad has been stalwart in our commitment to provide answers to every patient concerned about their breast cancer risks," he continued. "Through the years Myriad has expanded the number of genes tested and demonstrated an unmatched commitment to classifying uncertain variants. Now this new test will provide definitive answers to the ninety percent of patients testing negative for hereditary cancer genes and will be complimentary to patients tested with myRisk®."

riskScore is a proprietary algorithm that combines data from greater than 80 genetic markers called single nucleotide polymorphisms (SNPs), with a best-in-class family and personal history algorithm called the Tyrer-Cuzick model. Myriad researchers optimized the genetic markers in riskScore by starting with over 100,000 patient samples and have now completed two highly statistically significant validation studies in patients of European descent demonstrating the ability of riskScore to predict breast cancer risk.

These major validation studies will be presented at the National Society of Genetic Counselors Annual Conference and San Antonio Breast Cancer Symposium later this calendar year.

"Having played a part in every major epoch in hereditary cancer testing, we feel particularly proud of the innovative research employed to develop the riskScore test," said Jerry Lanchbury, Ph.D., chief scientific officer, Myriad Genetics. "The test will actually provide definitive answers for a higher percentage of patients than any previous test and is based upon a rigorous clinical validation. When decisions matter, patients can rely on the quality of Myriad research."

riskScore is a new clinically validated precision medicine tool that enhances Myriad's myRisk® Hereditary Cancer test. riskScore helps to further predict a women's lifetime risk of developing breast cancer using clinical risk factors and genetic-markers throughout the genome. The test incorporates data from greater than 80 single nucleotide polymorphisms identified through 20 years of genome-wide association studies in breast cancer and validated in our laboratory to predict breast cancer risk.

This data is then combined with a best-in-class family and personal history algorithm, the Tyrer-Cuzick model, to provide every patient with a customizable risk score. riskScore is offered free-of-charge as an added service to Myriad's myRisk Hereditary Cancer test.

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