Germline Mutations Identified by a 25-Gene Panel in Patients Undergoing Lynch Syndrome Testing
This study evaluated the mutation prevalence among cases referred for Lynch Syndrome (LS), the most common genetic cause of colon cancer, using the myRisk Hereditary Cancer test, a 25-gene hereditary cancer panel. The study presents data from two cohorts representing a total of 1,133 patients diagnosed with colon cancer or colorectal polyps. The results demonstrated that 10% of patients had deleterious mutations in the traditional hereditary colon cancer genes, but an additional 6% had deleterious mutations in other genes. This represents a 60% increase in the number of patients detected with deleterious mutations in cancer predisposing genes.
Overlap between Lynch Syndrome and Hereditary Breast and Ovarian Cancer Syndrome among Family Histories in Patients Tested for Hereditary Cancer Syndromes
This study investigated the overlap of personal and family histories in hereditary breast and ovarian cancer (HBOC) and hereditary colon cancer in 9,000 patients. Results showed that among patients tested for HBOC, 6.9% also had family histories that meet the National Comprehensive Cancer Network criteria for hereditary colon cancer. In addition, 30% of patients tested for hereditary colon cancer also met NCCN criteria for HBOC. This analysis demonstrates the overlap among patients with a family history of hereditary breast cancer and those with a family history of colon cancer, suggesting that patients may benefit from multi-gene panels to better improve the diagnosis of hereditary cancer syndromes.
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