Presented at the Festival of Genomics, Boston, MA, USA
Breast and ovarian cancers pose huge and still largely unsolved challenges for the medical profession. Most women with screening-detected breast cancer do not receive a clear treatment benefit, indicating that these cancers are still not being detected early enough. The less common ovarian cancer is often not diagnosed until in an advanced stage, resulting in a five-year survival rate of less than 40%. New tests based on genomic biomarkers have the potential to offer, for the first time, much earlier detection and diagnosis of ovarian cancers as well as improvements to routine breast cancer screening. In addition, such biomarkers provide greater prognostic capabilities, enabling better outcomes for patients for both cancers. The EU FP7 EpiFemCare consortium aims to improve patient outcomes for breast and ovarian cancer by developing and validating a series of blood tests based upon DNA methylation technology. These “liquid biopsies” will facilitate both early detection and prediction of therapeutic outcome of breast and ovarian cancer. We report here the results of applying novel bioinformatics methods offered by Genedata ProfilerTM, a software platform that optimizes the business process of genomic profiling of patients, for analysis of Reduced Representation Bisulfite Sequencing (RBBS) data to detect cancer-specific methylation regions for use as clinical diagnostic assays.