Development of a Next Generation Sequencing Panel to Assess Hereditary Cancer Risk that Includes Clinical Diagnostic Analysis of the BRCA1 and BRCA2 Genes. [Roa et al., Poster: Oct. 24, 2013, 11:30 a.m. — 12:30 p.m. ET]

This study validated the myRisk Hereditary Cancer test, which is a 25-gene panel that uses next generation sequencing (NGS) technology. The study compared the myRisk Hereditary Cancer test to the gold standard Sanger sequencing for evaluation of BRCA1 and BRCA2 mutations in 1,864 patient samples. myRisk Hereditary Cancer detected 15,877 variants compared to 15,878 variants using Sanger sequencing, resulting in an analytic sensitivity > 99.99 percent. These data show that a NGS gene panel designed to meet rigorous quality standards can provide clinical sequencing results that are equivalent to those obtained from Sanger DNA sequencing analysis (i.e., greater sensitivity without loss of specificity). In this validation study, Myriad’s myRisk Hereditary Cancer test was shown to be highly effective and provided high quality, accurate results for clinical decision-making purposes.

Abstract: 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 percent of patients had deleterious mutations in the traditional hereditary colon cancer genes, but an additional 6 percent had deleterious mutations in other genes. This represents a 60 percent increase in the number of patients detected with deleterious mutations in cancer predisposing genes

Abstract: 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. Results showed that among patients tested for HBOC, 6.9 percent also had family histories that meet the National Comprehensive Cancer Network (NCCN) criteria for hereditary colon cancer. In addition, 30 percent 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.