October 10, 2013

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Myriad Genetics Study Points to Importance of Genetic Testing

Press Release

October 10, 2013

Salt Lake City — Myriad Genetics, Inc. is set to present data showing the high prevalence and overlap between hereditary colon cancer and hereditary breast and ovarian cancer in patients previously diagnosed with endometrial and ovarian cancer. Myriad is presenting this data and another hereditary cancer study at the 2013 National Society of Genetic Counselors annual meeting in Anaheim, Calif.

"Myriad is committed to advancing the scientific understanding of hereditary cancers and developing innovative diagnostic tests to benefit a broad range of cancer patients," said Richard J. Wenstrup, chief medical officer of Myriad. "Our data show there is both a high prevalence and overlap of hereditary cancer syndromes in patients with endometrial and ovarian cancers, which supports the use of myRisk Hereditary Cancer testing to accurately diagnose patients and select appropriate medical management."

The Myriad study assessed the prevalence of hereditary colon cancer and hereditary breast and ovarian cancer in patients with both primary endometrial and ovarian cancer. Under current National Comprehensive Cancer Network guidelines, these patients would meet the medical criteria for both hereditary breast and ovarian cancer testing and hereditary colon cancer testing. Results showed that among 1,529 patients evaluated, 11.2 percent had a deleterious mutation with 73.3 percent of the mutations in hereditary colon cancer genes and 26.7 percent in hereditary breast cancer genes.

Although the prevalence of hereditary colon cancer was higher than hereditary breast cancer in patients with endometrial and ovarian cancers, these patients showed a strong family history overlap between the two syndromes. The findings suggest these patients would be appropriate candidates for testing with a hereditary cancer panel to prevent a missed diagnosis of hereditary cancer.

Another Myriad study evaluated the prevalence of deleterious mutations in patients with colorectal and endometrial cancer based on a decade of diagnosis. Data was obtained from 20,000 patients with colorectal cancer and/or endometrial cancer. The deleterious mutation rate was analyzed based on the age of diagnoses. Colorectal cancer patients diagnosed in their 40s had an 11.5 percent mutation rate and patients diagnosed in their 50s saw a 10.9 percent mutation rate, while patients in their 60s experienced a still very high 8.3 percent mutation rate.

Although hereditary colon cancer is associated with onset at an earlier age, these data show the importance of genetic testing for deleterious mutations in all patients, regardless of their age at diagnosis.


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