[PDF][PDF] Telomeres: history, health, and hallmarks of aging
The escalating social and economic burden of an aging world population has placed aging
research at center stage. The hallmarks of aging comprise diverse molecular mechanisms …
research at center stage. The hallmarks of aging comprise diverse molecular mechanisms …
Translational research in the era of precision medicine: where we are and where we will go
The advent of Precision Medicine has globally revolutionized the approach of translational
research suggesting a patient-centric vision with therapeutic choices driven by the …
research suggesting a patient-centric vision with therapeutic choices driven by the …
[PDF][PDF] Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes
Intra-tumor heterogeneity (ITH) is a mechanism of therapeutic resistance and therefore an
important clinical challenge. However, the extent, origin, and drivers of ITH across cancer …
important clinical challenge. However, the extent, origin, and drivers of ITH across cancer …
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes
JS Weinstock, CA Laurie, JG Broome, KD Taylor… - Science …, 2023 - science.org
Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test
this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision …
this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision …
Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers
Topoisomerases nick and reseal DNA to relieve torsional stress associated with
transcription and replication and to resolve structures such as knots and catenanes …
transcription and replication and to resolve structures such as knots and catenanes …
The genetic landscape of choroid plexus tumors in children and adults
C Thomas, P Soschinski, M Zwaig… - Neuro …, 2021 - academic.oup.com
Abstract Background Choroid plexus tumors (CPTs) are intraventricular brain tumors
predominantly arising in children but also affecting adults. In most cases, driver mutations …
predominantly arising in children but also affecting adults. In most cases, driver mutations …
Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia
B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is characterized by genetic
alterations with high heterogeneity. Precise subtypes with distinct genomic and/or gene …
alterations with high heterogeneity. Precise subtypes with distinct genomic and/or gene …
Pathogenic impact of transcript isoform switching in 1,209 cancer samples covering 27 cancer types using an isoform-specific interaction network
Under normal conditions, cells of almost all tissue types express the same predominant
canonical transcript isoform at each gene locus. In cancer, however, splicing regulation is …
canonical transcript isoform at each gene locus. In cancer, however, splicing regulation is …
Facilitation of definitive cancer diagnosis with quantitative molecular assays of BRAF V600E and TERT promoter variants in patients with thyroid nodules
G Fu, RS Chazen, E Monteiro, A Vescan… - JAMA Network …, 2023 - jamanetwork.com
Importance Molecular testing of the presence of pathogenic genomic variants in a tumor
without quantifying the variant allele fraction (VAF) does not differentiate the variation extent …
without quantifying the variant allele fraction (VAF) does not differentiate the variation extent …
Use of signals of positive and negative selection to distinguish cancer genes and passenger genes
L Bányai, M Trexler, K Kerekes, O Csuka, L Patthy - Elife, 2021 - elifesciences.org
A major goal of cancer genomics is to identify all genes that play critical roles in
carcinogenesis. Most approaches focused on genes positively selected for mutations that …
carcinogenesis. Most approaches focused on genes positively selected for mutations that …