Myriad Genetics publishes myRisk hereditary cancer study

Sept. 5, 2014

A study published in the journal Cancer indicates that the myRisk Hereditary Cancer test, manufactured by Myriad Genetics, Inc., significantly improved the detection of cancer-causing mutations by 46 percent. Researchers at Beth Israel Deaconess Medical Center, Dana Farber Cancer Institute, and Massachusetts General Hospital Cancer Center used the myRisk test to determine the frequency of hereditary cancer mutations in 2,158 individuals with a history of breast cancer, including 1,781 referred for commercial BRCA1/2testing, and 377 patients with a personal and family history who previously tested negative for BRCA mutations.

Deleterious mutations were found in a total of 16 genes. Among the 1,781 patients referred for commercial BRCA testing, 9.3% carried a mutation in BRCA1 or BRCA2. Importantly, an additional 4% of patients carried a mutation in another breast and ovarian cancer susceptibility gene. Among the 377 patients with personal and family histories who previously tested negative for BRCA mutations, the frequency of mutations in the other breast and ovarian cancer susceptibility genes was nearly 3 percent. Additionally, among the 1,781 patients referred for commercial BRCA testing, 0.4% of individuals had mutations in colon cancer (Lynch-syndrome) genes.

The myRisk Hereditary Cancer test increased the detection of cancer-causing mutations in genes other than BRCA1 or BRCA2 by 46% and found 43% more women with a deleterious mutation. Most of these new mutations were in other cancer susceptibility genes associated with breast/ovarian cancer such as CHEK2,PALB2, and ATM.

“These findings support the use of panel testing for some patients with breast cancer because it is much more efficient than testing one gene at a time, and may identify mutations in patients who are unaware of their family history of cancer,” says study co-author Nadine Tung, MD. The myRisk test uses next-generation sequencing technology to evaluate 25 clinically significant genes associated with eight cancers to provide patients with information about their cancer risks. Read the study abstract.

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