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Genome-wide association studies are enriched for interacting genes.
BioData Min
January 2025
The Department of Computational Biomedicine, Cedars-Sinai Medical Center, Los Angeles, CA, 90069, USA.
Background: With recent advances in single cell technology, high-throughput methods provide unique insight into disease mechanisms and more importantly, cell type origin. Here, we used multi-omics data to understand how genetic variants from genome-wide association studies influence development of disease. We show in principle how to use genetic algorithms with normal, matching pairs of single-nucleus RNA- and ATAC-seq, genome annotations, and protein-protein interaction data to describe the genes and cell types collectively and their contribution to increased risk.
View Article and Find Full Text PDFPatients with DCIS Seen at a Specialized High-Risk Breast Clinic Run by Surgical Advanced Practice Providers Have High Rates of Preventive Medication Uptake.
Ann Surg Oncol
January 2025
Wilmot Cancer Institute, University of Rochester Medical Center, Rochester, NY, USA.
Background: Preventative medication (PM) uptake is low among patients at an elevated risk of breast cancer, largely due to fears of intolerance. This study aimed to investigate whether a new, surgical advanced practice provider (APP)-run clinic was effectively prescribing PM. We hypothesized equivalent rates of PM uptake compared to consultation with medical oncologists (MD).
View Article and Find Full Text PDFPhysical activity and quality of life among breast cancer survivors: Pink SWAN.
Support Care Cancer
January 2025
Department of Social Sciences and Health Policy, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Purpose: To describe physical activity (PA) trajectories across 10 years post-breast cancer diagnosis and examine their association with quality of life (QoL).
Methods: Participants from the longitudinal Study of Women's Health Across the Nation who developed incident breast cancer completed the Quality of Life in Adult Cancer Survivors scale (QLACS) which has 12 domains. Breast cancer survivors (BCS) with at least one post-diagnosis measure of the Kaiser Physical Activity Survey (PA) were included (n = 96).
Loss of correlated proteasomal subunit expression selectively promotes the 20S state which underlies luminal breast tumorigenicity.
Commun Biol
January 2025
Protein Interactome Laboratory for Structural and Functional Biology, Advanced Centre for Treatment, Research and Education in Cancer, Navi Mumbai, India.
Why cancer cells disproportionately accumulate polyubiquitinated proteotoxic proteins despite high proteasomal activity is an outstanding question. While mis-regulated ubiquitination is a contributing factor, here we show that a structurally-perturbed and sub-optimally functioning proteasome is at the core of altered proteostasis in tumors. By integrating the gene coexpression signatures of proteasomal subunits in breast cancer (BrCa) patient tissues with the atomistic details of 26S holocomplex, we find that the transcriptional deregulation induced-stoichiometric imbalances perpetuate with disease severity.
View Article and Find Full Text PDFTranscription factor EB (TFEB) activity increases resistance of TNBC stem cells to metabolic stress.
Life Sci Alliance
March 2025
https://ror.org/00hj54h04 Interdisciplinary Life Sciences Graduate Programs, The University of Texas at Austin, Austin, TX, USA
Breast cancer stem cells (CSCs) are difficult to therapeutically target, but continued efforts are critical given their contribution to tumor heterogeneity and treatment resistance in triple-negative breast cancer. CSC properties are influenced by metabolic stress, but specific mechanisms are lacking for effective drug intervention. Our previous work on TFEB suggested a key function in CSC metabolism.
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