Survival Analysis study with RNA-Seq, WGS data on dbGaP (24 participants)

phs003020 — Molecular Analysis of Short- Versus Long-Term Survivors of High-Grade    Serous Ovarian Carcinoma

The underlying determinants for long-term survival (LTS, ≥10 years) versus short-term survival (STS, &#x3C;3 years) of patients diagnosed with high-grade serous ovarian carcinoma (HGSC) are largely unknown. The present study sought to identify molecular predictors of LTS for women with HGSC. A cohort of 24 frozen HGSC samples (12 LTS and 12 STS) were collected and analyzed at DNA and RNA levels. Copy number variation and mutation did not indicate large differences between LTS and STS. From RNA-Seq analysis, 11 genes were found to be differentially expressed between the STS and LTS groups (fold change >2; false discovery rate &#x3C;0.01). In the validation cohort, transmembrane protein 62 (<a href="https://www.ncbi.nlm.nih.gov/gene/80021">TMEM62</a>) was found to be related to LTS. Our in vitro and in vivo studies demonstrate that restoring <a href="https://www.ncbi.nlm.nih.gov/gene/80021">TMEM62</a> may be a novel approach for treatment of HGSC. These findings may have implications for biomarker and intervention strategies to help improve patient outcomes.