Study highlights importance of expanding genetic testing for breast cancer patients

Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, working in collaboration with researchers from the Harvard Medical School, today announced that the Journal of Clinical Oncology has published a paper showing the frequency of germline mutations in 25 cancer susceptibility genes among patients with breast cancer.

“This is the first study to show the frequency of germline mutations in BRCA1/2 and other breast cancer predisposition genes in a sequential series of breast cancer patients prospectively collected and unselected for family history or age ,” said Anne-Renee Hartman, M.D., an author of the publication and senior vice president of clinical development at Myriad Genetic Laboratories. “Overall, the 25-gene panel identified 70 percent more breast cancer causing mutations than BRCA1/2 testing alone. This important new finding is being used to identify more patients with mutations with the ultimate goal of helping them and their families to take appropriate risk reduction measures.”

In this study, 488 patients newly diagnosed with breast cancer at the Dana-Farber Cancer Institute were evaluated for mutations in 25 cancer genes using the Myriad myRisk® Hereditary Cancer test. The results show that 52 patients, or 10 percent, had a germline mutation in a breast cancer predisposition gene. Approximately 30 mutations were in BRCA1/2 genes and 21 were in other cancer genes, representing a 70 percent increase in mutations identified above BRCA testing alone. Importantly, of the women with deleterious mutations 22, or 42 percent, were diagnosed after age 45, suggesting that older patients may benefit from genetic testing using the 25-gene panel.

“We are delighted to have partnered with Myriad to examine this important question,” said Judy E. Garber, M.D., director, Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, and one of the lead investigators in the study. “It is clear that panel testing is providing new information on inherited breast cancer predisposition, and we hope this study provides another piece of the puzzle.”

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