Myriad Genetics, a US-based molecular diagnostic company, has presented clinical data for its myRisk Hereditary Cancer test at the 2013 San Antonio Breast Cancer Symposium.
The clinical validation study demonstrated that the myRisk Hereditary Cancer test found 51% more patients with a higher risk of hereditary breast and ovarian cancer than did testing for the BRCA1 and BRCA2 genes alone.
Using next-generation sequencing technology, myRisk test evaluates 25 genes associated with eight major hereditary cancers that include breast, colorectal, ovarian, endometrial, pancreatic, prostate, gastric, and melanoma.
The clinical study measured mutations in 25 cancer-causing genes among 1,951 patients who were referred for BRCA1/2 testing. Of the 1,951 patients, 275 patients tested positive for a deleterious mutation with the myRisk test.
Testing only for the BRCA1 and BRCA2 genes found only 182 of the mutation carriers, representing a 51% increase in hereditary breast and ovarian cancer mutation detection for the test.
myRisk Hereditary Cancer test has demonstrated 99.9% accuracy in this study.
This test, which includes only clinically actionable genes, has now been validated in approximately 5,000 patients in clinical studies. All genes in the myRisk panel have a high to moderately-high penetrance or lifetime risk of cancer for patients.
Myriad Genetics chief medical officer Dr Richard J Wenstrup noted hereditary cancers are caused by mutations in many different genes and new genes linked to cancer have been recently identified.
"Testing only for one hereditary cancer syndrome may lead to missed mutations. The myRisk test evaluates 25 clinically actionable genes and significantly improves our ability to identify people at higher risk for hereditary cancer, which may lead to prevention or early detection with the ability to reduce cancer incidence and mortality," Wenstrup added.