Myriad Genetics Says riskScore Highly Predictive of Breast Cancer Risk in European Women

Myriad Genetics (MYGN) said early Friday results from a study into Hereditary Cancer show that its SNP [single nucleotide polymorphisms] residual risk score–riskScore–was highly predictive of breast cancer risk in unaffected women of European ancestry.

The unaffected women in the study had a family cancer history and had tested negative for germline mutations in known breast-cancer risk genes, the company said in a statement. This study evaluated 86 SNPs as breast cancer risk factors through the validation of a polygenic residual risk score in large, consecutive cohorts of more than 17,205 women.

“Women who have not yet developed cancer but have a family history of breast cancer should consider hereditary cancer testing with multi-gene panels,” said Ora Gordon, a medical director at the Center for Clinical Genetics & Genomics, Providence Health & Services Southern California.

The new riskScore test combines this data to provide patients with additional information about their individual risk for developing breast cancer in five years and over their lifetime to confirm whether high risk interventions are still needed despite negative single gene testing results.

“This is a much needed and long awaited advance in the personalization of breast cancer risk,” Gordon said.

Additionally, the company also said results from a separate study show that when a comprehensive classification approach is employed, variant re-classification is relatively common – 19% – in genetic testing for hereditary cancer risk.

This study assessed variant reclassification in 1.4 million patients tested for hereditary cancer risk assessment between 2006 and 2016. Of these, 96% were female, 52% were of European decent and the median age was 49 years. Approximately 56% had a personal history of cancer at the time of testing.

“Accurate classification of genetic variants can significantly impact on clinical care of patients and highlights the need timely reclassification and notification,” Johnathan Lancaster, chief medical officer of Myriad, said. “Our ultimate goal is to definitively classify all genetic mutations, which is why Myriad invests so heavily in variant classification research and through scientific collaborations and publications.”

riskScore is a new, clinically-validated personalized medicine tool that enhances Myriad’s myRisk Hereditary Cancer test.

Data from both the studies will be presented at the 36th annual conference of the National Society of Genetic Counselors in Columbus, Ohio, the statement added.

Receive News & Ratings Via Email - Enter your email address below to receive a concise daily summary of the latest news and analysts' ratings with's FREE daily email newsletter.