- Results from 2,000-patients prospective study, Study 005, of Myriad Genetics ' (NASDAQ:MYGN) myRisk Hereditary Cancer test reinforced its clinical utility. The data, being presented at ASCO, showed half of the identified mutations were in patients who would not meet current testing guidelines while 34% of mutations were identified in unexpected genes.
- In 2,000 patients tested with myRisk, 242 were identified with pathogenic mutations. More than 50% of those with BRCA1/2 or mismatch pair (MMR) mutations had a carrier probability (CP) score of less than 5% while 4% of those with BRCA1/2 mutations did not meet NCCN guidelines for hereditary breast and ovarian cancer syndrome and 13% of the MMR+ group did not meet NCCN criteria for Lynch syndrome testing. The company says the data support the lowering of guideline-recommended CP threshold for genetic testing (Abstract #1523).
- Now read: Updated late-stage data continue to demonstrate treatment benefit of Novartis' Kisqali in breast cancer
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