Emerging genotype–phenotype relationships in patients with large NF1 deletions

H Kehrer-Sawatzki, VF Mautner, DN Cooper - Human Genetics, 2017 - Springer
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions
encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of …

DNA damage tolerance in stem cells, ageing, mutagenesis, disease and cancer therapy

B Pilzecker, OA Buoninfante, H Jacobs - Nucleic acids research, 2019 - academic.oup.com
The DNA damage response network guards the stability of the genome from a plethora of
exogenous and endogenous insults. An essential feature of the DNA damage response …

Genome-wide profiling of genetic synthetic lethality identifies CDK12 as a novel determinant of PARP1/2 inhibitor sensitivity

I Bajrami, JR Frankum, A Konde, RE Miller, FL Rehman… - Cancer research, 2014 - AACR
Small-molecule inhibitors of PARP1/2, such as olaparib, have been proposed to serve as a
synthetic lethal therapy for cancers that harbor BRCA1 or BRCA2 mutations. Indeed, in …

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

KB Kuchenbaecker, SJ Ramus, J Tyrer, A Lee… - Nature …, 2015 - nature.com
Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer
(EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 …

The exomes of the NCI-60 panel: a genomic resource for cancer biology and systems pharmacology

OD Abaan, EC Polley, SR Davis, YJ Zhu, S Bilke… - Cancer research, 2013 - AACR
The NCI-60 cell lines are the most frequently studied human tumor cell lines in cancer
research. This panel has generated the most extensive cancer pharmacology database …

[HTML][HTML] The Elg1 replication factor C-like complex functions in PCNA unloading during DNA replication

T Kubota, K Nishimura, MT Kanemaki, AD Donaldson - Molecular cell, 2013 - cell.com
The ring-shaped complex PCNA coordinates DNA replication, encircling DNA to act as a
polymerase clamp and a sliding platform to recruit other replication proteins. PCNA is …

A selective USP1–UAF1 inhibitor links deubiquitination to DNA damage responses

Q Liang, TS Dexheimer, P Zhang, AS Rosenthal… - Nature chemical …, 2014 - nature.com
Protein ubiquitination and deubiquitination are central to the control of a large number of
cellular pathways and signaling networks in eukaryotes. Although the essential roles of …

R-loop-mediated genome instability in mRNA cleavage and polyadenylation mutants

PC Stirling, YA Chan, SW Minaker… - Genes & …, 2012 - genesdev.cshlp.org
Genome instability via RNA: DNA hybrid-mediated R loops has been observed in mutants
involved in various aspects of transcription and RNA processing. The prevalence of this …

Selective inhibition of CD4+ T-cell cytokine production and autoimmunity by BET protein and c-Myc inhibitors

HS Bandukwala, J Gagnon, S Togher… - Proceedings of the …, 2012 - National Acad Sciences
Bromodomain-containing proteins bind acetylated lysine residues on histone tails and are
involved in the recruitment of additional factors that mediate histone modifications and …

DNA replication vulnerabilities render ovarian cancer cells sensitive to poly (ADP-ribose) glycohydrolase inhibitors

N Pillay, A Tighe, L Nelson, S Littler, C Coulson-Gilmer… - Cancer Cell, 2019 - cell.com
Inhibitors of poly (ADP-ribose) polymerase (PARP) have demonstrated efficacy in women
with BRCA-mutant ovarian cancer. However, only 15%–20% of ovarian cancers harbor …