Myriad Genetics Inc. (MYGN) announced that a presentation entitled, "Representation of PMS2 mutations in patients seeking genetic testing for Lynch syndrome," was presented at the 2012 American College of Medical Genetics and Genomics or ACMG Annual Clinical Genetics Meeting.
The company said that the study found cancer causing mutations in the PMS2 gene in 14 percent of patients with personal and family histories suggestive of Lynch syndrome, a hereditary form of colon cancer. The study concluded that comprehensive diagnostic testing for Lynch syndrome should include the PMS2 gene.
Researchers at Myriad analyzed the prevalence of genetic mutations using the COLARIS test in 327 patients to confirm the importance of testing for mutations in the PMS2 gene. Cancer causing mutations were also found in the MSH2, MLH1, and MSH6 genes. Approximately 38 percent of patients were found to have a mutation in the MSH2 gene, 30 percent in the MLH1 gene, 18 percent in the MSH6 gene and 14 percent of mutations were found in the PMS2 gene, the company said.
The company noted that the study demonstrates the importance of the analyzing the PMS2 gene to fully comprehend a patient's Lynch syndrome status.
by RTT Staff Writer
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