Multi-omics approaches for biomarker discovery in early ovarian cancer diagnosis

Y Xiao, M Bi, H Guo, M Li - EBioMedicine, 2022 - thelancet.com
Ovarian cancer (OC) is a heterogeneous disease with the highest mortality rate and the
poorest prognosis among gynecological malignancies. Because of the absence of specific …

Homologous recombination deficiency: exploiting the fundamental vulnerability of ovarian cancer

PA Konstantinopoulos, R Ceccaldi, GI Shapiro… - Cancer discovery, 2015 - AACR
Approximately 50% of epithelial ovarian cancers (EOC) exhibit defective DNA repair via
homologous recombination (HR) due to genetic and epigenetic alterations of HR pathway …

Functional interrogation of DNA damage response variants with base editing screens

R Cuella-Martin, SB Hayward, X Fan, X Chen… - Cell, 2021 - cell.com
Mutations in DNA damage response (DDR) genes endanger genome integrity and
predispose to cancer and genetic disorders. Here, using CRISPR-dependent cytosine base …

Accurate classification of BRCA1 variants with saturation genome editing

GM Findlay, RM Daza, B Martin, MD Zhang, AP Leith… - Nature, 2018 - nature.com
Variants of uncertain significance fundamentally limit the clinical utility of genetic information.
The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which …

The shieldin complex mediates 53BP1-dependent DNA repair

SM Noordermeer, S Adam, D Setiaputra, M Barazas… - Nature, 2018 - nature.com
Abstract 53BP1 is a chromatin-binding protein that regulates the repair of DNA double-
strand breaks by suppressing the nucleolytic resection of DNA termini,. This function of …

Inherited mutations in women with ovarian carcinoma

BM Norquist, MI Harrell, MF Brady, T Walsh… - JAMA …, 2016 - jamanetwork.com
Importance Germline mutations inBRCA1andBRCA2are relatively common in women with
ovarian, fallopian tube, and peritoneal carcinoma (OC) causing a greatly increased lifetime …

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 …

Hereditary breast and ovarian cancer: new genes in confined pathways

FC Nielsen, T van Overeem Hansen… - Nature Reviews …, 2016 - nature.com
Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary
breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC …

REV7 counteracts DNA double-strand break resection and affects PARP inhibition

G Xu, JR Chapman, I Brandsma, J Yuan, M Mistrik… - Nature, 2015 - nature.com
Error-free repair of DNA double-strand breaks (DSBs) is achieved by homologous
recombination (HR), and BRCA1 is an important factor for this repair pathway. In the …

Homology-directed repair and the role of BRCA1, BRCA2, and related proteins in genome integrity and cancer

CC Chen, W Feng, PX Lim, EM Kass… - Annual review of …, 2018 - annualreviews.org
Germ-line and somatic mutations in genes that promote homology-directed repair (HDR),
especially BRCA1 and BRCA2, are frequently observed in several cancers, in particular …