Fibroblast growth factor receptors in cancer: genetic alterations, diagnostics, therapeutic targets and mechanisms of resistance

MA Krook, JW Reeser, G Ernst, H Barker… - British Journal of …, 2021 - nature.com
Fibroblast growth factor receptors (FGFRs) are aberrantly activated through single-
nucleotide variants, gene fusions and copy number amplifications in 5–10% of all human …

Structural variation in the sequencing era

SS Ho, AE Urban, RE Mills - Nature Reviews Genetics, 2020 - nature.com
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

EagleC: A deep-learning framework for detecting a full range of structural variations from bulk and single-cell contact maps

X Wang, Y Luan, F Yue - Science Advances, 2022 - science.org
The Hi-C technique has been shown to be a promising method to detect structural variations
(SVs) in human genomes. However, algorithms that can use Hi-C data for a full-range SV …

High yield of RNA sequencing for targetable kinase fusions in lung adenocarcinomas with no mitogenic driver alteration detected by DNA sequencing and low tumor …

R Benayed, M Offin, K Mullaney, P Sukhadia… - Clinical Cancer …, 2019 - AACR
Purpose: Targeted next-generation sequencing of DNA has become more widely used in
the management of patients with lung adenocarcinoma; however, no clear mitogenic driver …

Dissolution of oncofusion transcription factor condensates for cancer therapy

Y Wang, C Yu, G Pei, W Jia, T Li, P Li - Nature Chemical Biology, 2023 - nature.com
Cancer-associated chromosomal rearrangements can result in the expression of numerous
pathogenic fusion proteins. The mechanisms by which fusion proteins contribute to …

Single-cell RNA sequencing analysis: a step-by-step overview

S Slovin, A Carissimo, F Panariello, A Grimaldi… - RNA bioinformatics, 2021 - Springer
Thanks to innovative sample-preparation and sequencing technologies, gene expression in
individual cells can now be measured for thousands of cells in a single experiment. Since its …

Extrachromosomal oncogene amplification in tumour pathogenesis and evolution

RGW Verhaak, V Bafna, PS Mischel - Nature Reviews Cancer, 2019 - nature.com
Recent reports have demonstrated that oncogene amplification on extrachromosomal DNA
(ecDNA) is a frequent event in cancer, providing new momentum to explore a phenomenon …

Genome-wide detection of DNA double-stranded breaks induced by engineered nucleases

RL Frock, J Hu, RM Meyers, YJ Ho, E Kii, FW Alt - Nature biotechnology, 2015 - nature.com
Although great progress has been made in the characterization of the off-target effects of
engineered nucleases, sensitive and unbiased genome-wide methods for the detection of …

TRKing down an old oncogene in a new era of targeted therapy

A Vaishnavi, AT Le, RC Doebele - Cancer discovery, 2015 - AACR
The use of high-throughput next-generation sequencing techniques in multiple tumor types
during the last few years has identified NTRK1, 2, and 3 gene rearrangements encoding …

The role of enhancers in cancer

I Sur, J Taipale - Nature Reviews Cancer, 2016 - nature.com
Enhancer elements function as the logic gates of the genetic regulatory circuitry. One of their
most important functions is the integration of extracellular signals with intracellular cell fate …