Enhancers in disease: molecular basis and emerging treatment strategies

A Claringbould, JB Zaugg - Trends in molecular medicine, 2021 - cell.com
Enhancers are genomic sequences that play a key role in regulating tissue-specific gene
expression levels. An increasing number of diseases are linked to impaired enhancer …

Pediatric acute lymphoblastic leukemia

H Inaba, CG Mullighan - Haematologica, 2020 - pmc.ncbi.nlm.nih.gov
The last decade has witnessed great advances in our understanding of the genetic and
biological basis of childhood acute lymphoblastic leukemia (ALL), the development of …

Super-enhancer hypermutation alters oncogene expression in B cell lymphoma

E Bal, R Kumar, M Hadigol, AB Holmes, LK Hilton… - Nature, 2022 - nature.com
Diffuse large B cell lymphoma (DLBCL) is the most common B cell non-Hodgkin lymphoma
and remains incurable in around 40% of patients. Efforts to sequence the coding genome …

Structural variants drive context-dependent oncogene activation in cancer

Z Xu, DS Lee, S Chandran, VT Le, R Bump, J Yasis… - Nature, 2022 - nature.com
Higher-order chromatin structure is important for the regulation of genes by distal regulatory
sequences,. Structural variants (SVs) that alter three-dimensional (3D) genome organization …

[HTML][HTML] Enhancer reprogramming promotes pancreatic cancer metastasis

JS Roe, CI Hwang, TDD Somerville, JP Milazzo… - Cell, 2017 - cell.com
Pancreatic ductal adenocarcinoma (PDA) is one of the most lethal human malignancies,
owing in part to its propensity for metastasis. Here, we used an organoid culture system to …

Developmental origins shape the paediatric cancer genome

X Chen, W Yang, CWM Roberts, J Zhang - Nature Reviews Cancer, 2024 - nature.com
In the past two decades, technological advances have brought unprecedented insights into
the paediatric cancer genome revealing characteristics distinct from those of adult cancer …

Enhancer–promoter specificity in gene transcription: molecular mechanisms and disease associations

MJ Friedman, T Wagner, H Lee… - … & Molecular Medicine, 2024 - nature.com
Although often located at a distance from their target gene promoters, enhancers are the
primary genomic determinants of temporal and spatial transcriptional specificity in …

Diagnosis and classification of hematologic malignancies on the basis of genetics

J Taylor, W **ao, O Abdel-Wahab - Blood, The Journal of the …, 2017 - ashpublications.org
Genomic analysis has greatly influenced the diagnosis and clinical management of patients
affected by diverse forms of hematologic malignancies. Here, we review how genetic …

MYC Drives a Subset of High-Risk Pediatric Neuroblastomas and Is Activated through Mechanisms Including Enhancer Hijacking and Focal Enhancer Amplification

MW Zimmerman, Y Liu, S He, AD Durbin… - Cancer …, 2018 - aacrjournals.org
The amplified MYCN gene serves as an oncogenic driver in approximately 20% of high-risk
pediatric neuroblastomas. Here, we show that the family member MYC is a potent …

Reprogramming of the FOXA1 cistrome in treatment-emergent neuroendocrine prostate cancer

SC Baca, DY Takeda, JH Seo, J Hwang, SY Ku… - Nature …, 2021 - nature.com
Lineage plasticity, the ability of a cell to alter its identity, is an increasingly common
mechanism of adaptive resistance to targeted therapy in cancer. An archetypal example is …