Mayo Clinic and Illumina Collaborative Early Stage Ovarian Cancer (ESOC) Study

Twenty five patients with early stage carcinoma (Stage I and II) of the ovary were consented for this study. As part of a collaborative agreement with Illumina Inc, Tumor-DNA and patient matched normal DNA from blood underwent whole genome sequencing and microarray genotyping and RNA underwent RNASeq. Tissue also underwent IHC staining for TP53 mutations. The aim of the study was to profile the genomic landscape of these early tumors to discover biomarkers for early detection or subgrouping into different genomic or outcome subgroups. Analyses performed include somatic mutation analysis, RNASeq mutation analysis, LOH analysis, structural variant detection. The current release of this study focusses on 17 patients with serous carcinoma and stage 1 or 2 and with high grade (3 or 4).]]> Patients were selected if they were diagnosed with an ovarian tumor of stage 1 of 2. Patients were excluded if they had a known family history of BRCA1 or BRCA2 germline mutation or if they had a positive test for germline mutation in their clinical record. These patients were required to be chemo-naive prior to collection of the tumor tissue. The current release of this study focusses on 17 patients with serous carcinoma and stage 1 or 2 and with high grade (3 or 4).]]> In December 2006, a collaboration agreement begun to jointly discover biomarkers or assays based on genomic profiling of early stage ovarian cancer tumors and to jointly publish the results. Researchers from Mayo Clinic were to provide specimens from consented patients and expertize to analyze the results. Illumina provided the initial sequencing and genomics data as well as followup validation.]]>