DNA replication stress as a hallmark of cancer

M Macheret, TD Halazonetis - Annual Review of Pathology …, 2015 - annualreviews.org
Human cancers share properties referred to as hallmarks, among which sustained
proliferation, escape from apoptosis, and genomic instability are the most pervasive. The …

Mechanisms of change in gene copy number

PJ Hastings, JR Lupski, SM Rosenberg… - Nature Reviews Genetics, 2009 - nature.com
Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a
major source of variation between individual humans and are an underlying factor in human …

Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9

G Cullot, J Boutin, S Fayet, F Prat, J Rosier… - Nature …, 2023 - nature.com
The CRISPR-Cas9 system has revolutionized our ability to precisely modify the genome and
has led to gene editing in clinical applications. Comprehensive analysis of gene editing …

Copy number variation and selection during reprogramming to pluripotency

SM Hussein, NN Batada, S Vuoristo, RW Ching… - Nature, 2011 - nature.com
The mechanisms underlying the low efficiency of reprogramming somatic cells into induced
pluripotent stem (iPS) cells are poorly understood. There is a clear need to study whether …

Fragile sites in cancer: more than meets the eye

TW Glover, TE Wilson, MF Arlt - Nature Reviews Cancer, 2017 - nature.com
Ever since initial suggestions that instability at common fragile sites (CFSs) could be
responsible for chromosome rearrangements in cancers, CFSs and associated genes have …

Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication

A Sfeir, ST Kosiyatrakul, D Hockemeyer, SL MacRae… - Cell, 2009 - cell.com
Telomeres protect chromosome ends through the interaction of telomeric repeats with
shelterin, a protein complex that represses DNA damage signaling and DNA repair …

Signatures of mutation and selection in the cancer genome

GR Bignell, CD Greenman, H Davies, AP Butler… - Nature, 2010 - nature.com
The cancer genome is moulded by the dual processes of somatic mutation and selection.
Homozygous deletions in cancer genomes occur over recessive cancer genes, where they …

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease

A Goriely, AOM Wilkie - The American Journal of Human Genetics, 2012 - cell.com
Advanced paternal age has been associated with an increased risk for spontaneous
congenital disorders and common complex diseases (such as some cancers, schizophrenia …

Recombination and the maintenance of plant organelle genome stability

A Maréchal, N Brisson - New Phytologist, 2010 - Wiley Online Library
Like their nuclear counterpart, the plastid and mitochondrial genomes of plants have to be
faithfully replicated and repaired to ensure the normal functioning of the plant. Inability to …

Mechanisms for recurrent and complex human genomic rearrangements

P Liu, CMB Carvalho, PJ Hastings, JR Lupski - Current opinion in genetics …, 2012 - Elsevier
During the last two decades, the importance of human genome copy number variation
(CNV) in disease has become widely recognized. However, much is not understood about …