Publications by authors named "R Beroukhim"

While the effect of amplification-induced oncogene expression in cancer is known, the impact of copy-number gains on "bystander" genes is less understood. We create a comprehensive map of dosage compensation in cancer by integrating expression and copy number profiles from over 8000 tumors in The Cancer Genome Atlas and cell lines from the Cancer Cell Line Encyclopedia. Additionally, we analyze 17 cancer open reading frame screens to identify genes toxic to cancer cells when overexpressed.

View Article and Find Full Text PDF

Background: The Fontan operation is associated with chronic venous hypertension, liver and renal disease, and several other sequelae. The alterative surgical approach, when feasible, a biventricular conversion (BiV), may diminish some of these long-term risks.

Objectives: The aim of this study was to compare long-term outcomes of patients undergoing BiV with those undergoing a destination Fontan operation.

View Article and Find Full Text PDF
Article Synopsis
  • Glioblastoma is described as immunologically "cold," making it resistant to solo immune-checkpoint inhibitors (ICI) like pembrolizumab, although neoadjuvant use may improve survival based on prior studies.
  • A study involving 25 additional patients analyzed tumor tissue for gene signatures and found that neoadjuvant pembrolizumab led to decreased cancer proliferation genes and increased T-cell activity, indicating a specific response to this treatment.
  • Despite observing these molecular changes, the study did not confirm an overall survival benefit from neoadjuvant pembrolizumab, suggesting that some patients may inherently resist ICI and may need additional therapies for effective treatment.
View Article and Find Full Text PDF

Background: Patients with hypoplastic left ventricles (LV) who undergo volume-loading procedures (recruitment, biventricular [BIV] repair) are at risk for adverse outcomes, including heart failure and death. We investigated pre-BIV LV shape as a predictor of outcome after BIV repair in patients with hypoplastic LVs.

Methods: Baseline and post-recruitment cardiac magnetic resonance imaging and computed tomography data were analyzed in patients with hypoplastic LV (<50 mL/m).

View Article and Find Full Text PDF
Article Synopsis
  • Postoperative atrioventricular block requiring pacemaker (AVB/PM) affects 14% to 25% of patients undergoing complex biventricular repair for congenital heart disease, especially those with heterotaxy syndrome.
  • This study explored the safety and effectiveness of intraoperative His bundle (HB) mapping to reduce the incidence of AVB/PM during these procedures.
  • Results showed that mapping significantly lowered AVB/PM rates in certain groups, while also highlighting the need for ongoing advancements in mapping technology for those still at risk.
View Article and Find Full Text PDF