Originally published Jan. 20.
By Turna Ray
Having garnered an exclusive license to patents covering the use of the RAD51C gene to assess women's risk for hereditary breast and ovarian cancer, Myriad Genetics may be working on developing a new diagnostic panel that would strengthen the company's position in a testing market it already dominates.
Myriad obtained the license from researchers and pediatric hematologists affiliated with the German Consortium for Hereditary Breast and Ovarian Cancer and several German universities, who discovered the association between the RAD51C gene and the heightened risk for hereditary breast and ovarian cancer. The license gives the company exclusive global rights and co-exclusive rights in Germany to provide a commercial test based on the RAD51C marker.
RAD51C, a gene involved in DNA damage repair, "could potentially be included in a pipeline product," a Myriad spokesperson told PGx Reporter this week. "Most likely [the gene] will be a component of a product, more than a standalone [test]." It is currently unclear whether the RAD51C gene mutations would be included in a panel along with BRCA mutations or as part of a test that includes other hereditary disease risk markers.
The Myriad spokesperson refrained from speculating about when Myriad might launch a new test panel for hereditary breast and ovarian cancer based on markers beyond BRCA1 and BRCA2, but noted it was unlikely that the company would launch such a test in the next year.
With exclusive licenses around the BRCA1 and BRCA2 gene mutations, Myriad is already the sole provider of genetic testing for hereditary breast and ovarian cancer. The BRACAnalysis test comprises nearly 90 percent of the company's molecular diagnostics revenues and netted Myriad $353 million in fiscal year 2011.
"As part of our strategy, we are committed to investing in the development of new transformative tests to improve the quality of patients' lives," Mark Capone, president of Myriad Genetic Laboratories, said in a statement. "This intellectual property will enhance our ability to provide patients and healthcare providers important information on a patient's predisposition to hereditary breast and ovarian cancer."
In 2010, the same researchers who hold the patents on RAD51C mutations, led by Alfons Meindl of the Technical University Munich, published a study in Nature Genetics in which they investigated more than 1,000 individuals from German families with a history of gynecological malignancies and identified six mutations in RAD51C that were associated with an increased risk for breast and ovarian cancer. Researchers identified RAD51C mutations "exclusively within 480 pedigrees with the occurrence of both breast and ovarian tumors, and not in 620 pedigrees with breast cancer only or in 2,912 healthy German controls," they wrote in the paper.
"These results provide the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog and support the 'common disease, rare allele' hypothesis," the researchers concluded in the paper.
In this study, the mutation prevalence rate was 1.3 percent among participants. A subsequent clinical trial reported last year in Breast Cancer Research and Treatment confirmed the findings in Nature Genetics and found a 1.3 percent mutation prevalence rate in Finnish and Swedish families with a history of breast and ovarian cancer.
In the Nature Genetics study, researchers looked at individuals from families who were negative for BRCA1 and BRCA2 mutations. As such, a diagnostic test that assesses individuals' susceptibility to breast and ovarian cancer based on the presence of certain RAD51C mutations could identify high-risk patients who would currently be missed by BRACAnalysis.
Researchers have estimated that women with a RAD51C mutation have between a 60 percent and 80 percent risk for breast cancer, and between a 20 percent and 40 percent risk of ovarian cancer.
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