Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins

R Prakash, Y Zhang, W Feng… - Cold Spring Harbor …, 2015 - cshperspectives.cshlp.org
Homologous recombination (HR) is a major pathway for the repair of DNA double-strand
breaks in mammalian cells, the defining step of which is homologous strand exchange …

Biomarkers for homologous recombination deficiency in cancer

MM Hoppe, R Sundar, DSP Tan… - JNCI: Journal of the …, 2018 - academic.oup.com
Defective DNA repair is a common hallmark of cancer. Homologous recombination is a DNA
repair pathway of clinical interest due to the sensitivity of homologous recombination …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Essential role of METTL3-mediated m6A modification in glioma stem-like cells maintenance and radioresistance

A Visvanathan, V Patil, A Arora, AS Hegde… - Oncogene, 2018 - nature.com
Despite advances in biology and therapeutic modalities, existence of highly tumorigenic
glioma stem-like cells (GSCs) makes glioblastomas (GBMs) invincible. N6-methyl adenosine …

Oncometabolites suppress DNA repair by disrupting local chromatin signalling

PL Sulkowski, S Oeck, J Dow, NG Economos… - Nature, 2020 - nature.com
Deregulation of metabolism and disruption of genome integrity are hallmarks of cancer.
Increased levels of the metabolites 2-hydroxyglutarate, succinate and fumarate occur in …

Adaptive mutability of colorectal cancers in response to targeted therapies

M Russo, G Crisafulli, A Sogari, NM Reilly, S Arena… - Science, 2019 - science.org
The emergence of drug resistance limits the efficacy of targeted therapies in human tumors.
The prevalent view is that resistance is a fait accompli: when treatment is initiated, cancers …

Replication fork stability confers chemoresistance in BRCA-deficient cells

A Ray Chaudhuri, E Callen, X Ding, E Gogola… - Nature, 2016 - nature.com
Cells deficient in the Brca1 and Brca2 genes have reduced capacity to repair DNA double-
strand breaks by homologous recombination and consequently are hypersensitive to DNA …

CRISPR screens identify genomic ribonucleotides as a source of PARP-trap** lesions

M Zimmermann, O Murina, MAM Reijns… - Nature, 2018 - nature.com
The observation that BRCA1-and BRCA2-deficient cells are sensitive to inhibitors of poly
(ADP–ribose) polymerase (PARP) has spurred the development of cancer therapies that use …

2-Hydroxyglutarate produced by neomorphic IDH mutations suppresses homologous recombination and induces PARP inhibitor sensitivity

PL Sulkowski, CD Corso, ND Robinson… - Science translational …, 2017 - science.org
2-Hydroxyglutarate (2HG) exists as two enantiomers,(R)-2HG and (S)-2HG, and both are
implicated in tumor progression via their inhibitory effects on α-ketoglutarate (αKG) …

CX-5461 is a DNA G-quadruplex stabilizer with selective lethality in BRCA1/2 deficient tumours

H Xu, M Di Antonio, S McKinney, V Mathew… - Nature …, 2017 - nature.com
G-quadruplex DNAs form four-stranded helical structures and are proposed to play key roles
in different cellular processes. Targeting G-quadruplex DNAs for cancer treatment is a very …