Ovarian Neoplasms study with Targeted-Capture, WGS data on dbGaP (52 participants)

phs002857 — MSK SPECTRUM - SPatiotemporal Evolution of Cancer Traced Using    Multimodalities

<a href="https://componcmsk.org/msk-spectrum/">MSK SPECTRUM</a> is a multi-modal, interdisciplinary prospective study of spatiotemporal determinants of high-grade serous ovarian cancer (HGSOC) evolution, treatment and response. Accounting for ~80% of ovarian cancers, HGSOC is the most lethal gynecological malignancy and is a cancer of major unmet clinical need. Challenges in disease management relate to several unresolved questions about disease biology and diagnostic modalities. Prospective longitudinal collection of tissues and blood from laparoscopic biopsies and debulking surgeries enable multi-modal molecular measurements. The program brings together formidable expertise at <a href="https://www.mskcc.org/">Memorial Sloan Kettering Cancer Center</a> (MSKCC) across the disciplines of high-resolution genomics and computer science, radiology and radiomics, surgery, tissue banking and sample preparation, medical oncology, immuno-oncology and high-resolution tissue profiling to generate a comprehensive and integrative dataset that will allow us to address the following major aims: i) characterize malignant and immune diversity at diagnosis, ii) survey the co-evolution of malignant cells and the immune response, and iii) stratify patients on standard-of-care and investigational compounds based on their genomic and transcriptomic signatures and changes to relevant genes (<a href="https://www.ncbi.nlm.nih.gov/gene/7157">TP53</a>, <a href="https://www.ncbi.nlm.nih.gov/gene/898">CCNE1</a>, <a href="https://www.ncbi.nlm.nih.gov/gene/672">BRCA1</a>/<a href="https://www.ncbi.nlm.nih.gov/gene/675">2</a>, <a href="https://www.ncbi.nlm.nih.gov/gene/51755">CDK12</a>). The goal is to create a framework to utilize integrated multi-modal data as a route to advanced diagnostics and to ultimately establish a proof-of-concept for integrated diagnostics.