On June 1, 2018 Myriad Genetics, Inc. (NASDAQ:MYGN), a leader in molecular diagnostics and personalized medicine, reported that results from a second major clinical validation study of its polygenic riskScore test will be featured in an oral presentation at the 2018 American Society of Clinical Oncology (ASCO) (Free ASCO Whitepaper) annual meeting in Chicago, Ill (Press release, Myriad Genetics, JUN 1, 2018, View Source [SID1234527022]).

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riskScore is an innovative test that combines 86 DNA variants with a person’s family and medical history, to determine a woman’s five-year and lifetime risk of breast cancer. The key finding from this prospective clinical trial is that the riskScore test can accurately predict the five-year and lifetime risk of breast cancer in women who test negative for a hereditary mutation using the myRisk Hereditary Cancer test.

"Women who undergo hereditary cancer testing and test negative for mutations in known breast cancer genes, frequently still have questions about their risk of breast cancer," said Johnathan Lancaster, M.D. Ph.D., gynecologic oncologist and chief medical officer, Myriad Genetics. "riskScore answers many of those questions by providing a definitive risk determination with a test that has been highly validated."

In March, MIT Technology Review magazine named riskScore as one of the top 10 Breakthrough Technologies for 2018. riskScore currently is available for women of European descent and who receive a negative myRisk Hereditary Cancer test result. However, every patient tested with the myRisk Hereditary Cancer test, regardless of ethnicity, will receive their lifetime breast cancer risk estimates according to Tyrer-Cuzick, which is a model that estimates risk based on family history and clinical features. Myriad is working to expand the riskScore test to other ethnicities in the future.

A summary of the oral presentation appears below and more information about the company’s presentation can be found on the ASCO (Free ASCO Whitepaper) website. Follow Myriad on Twitter via @MyriadGenetics and stay informed about symposium news and updates by using the hashtag #ASCO18.

myRisk Hereditary Cancer with riskScore Oral Presentation
Title: Validation of a combined residual risk score for healthy unaffected women presenting to breast cancer screening centers.
Presenter: Kathryn Dalton, DO, Cape Cod Healthcare.
Date: Sunday, June 3, 2018, 8:00—11:00 a.m.
Location: Oral Presentation, 1507

The objective of this study was to independently validate the riskScore test in a prospective, general patient population. riskScore is a novel test that combines data from the Tyrer-Cuzick model with genetic markers, called single nucleotide polymorphisms (SNPs), to comprise a combined risk score that accounts for clinical, familial and genetic variables. The study included 518 women: 256 women recently diagnosed with breast cancer and 262 unaffected women (controls). The results show that riskScore is a highly statistically significant predictor of the 5-year and lifetime risk of breast cancer (p=2.6×10-12 and p=2.5×10-12, respectively). Moreover, riskScore was statistically significantly superior to Tyrer-Cuzick alone for both 5-year and lifetime risk of breast cancer (1.9×10-8 and p=2.4×10-8, respectively), underscoring the independent contribution of the SNPs to the combined test score. Importantly, a separate analysis of the 86 SNPs in the controls showed that about half of those women tested had an increased risk of breast cancer compared to the general population (Graph 1).

Graph 1: Breast Cancer Risk Profile of Unaffected Women

"Individually, the 86 DNA variants may have a small effect on breast cancer risk. However, this study shows that when you combine them, it is possible to more accurately predict a woman’s risk of breast cancer versus relying on family history and clinical features alone," said Kathryn Dalton, DO, lead investigator, and breast surgeon at Cape Cod Healthcare General and Specialty Surgery in Hyannis, MA. "Importantly, this genetic information can be used to identify those women who are at normal risk and can be followed with routine screening and those who are at higher risk and may benefit from additional monitoring."

These results from this new study add to the growing body of evidence in support of riskScore. In December 2017, the first major clinical validation study of the combined clinical risk score (riskScore + Tyrer-Cuzick) was presented at the San Antonio Breast Cancer Symposium. In September 2017, the validation of the SNP genetic markers in more than 17,000 patients was presented at 36th Annual Conference of the National Society of Genetic Counselors.

About riskScore
riskScore is a new clinically validated personalized 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 more than 80 DNA variants, called single nucleotide polymorphisms, identified through 20 years of genome wide association studies in breast cancer and was validated in Myriad’s laboratory to predict breast cancer risk in women of European descent. This data is then combined with a best-in-class family and personal history algorithm, the Tyrer-Cuzick model, to provide every patient with individualized breast cancer risk.

About Myriad myRisk Hereditary Cancer
The Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 28 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.