Epithelial ovarian cancer: providing evidence of predisposition genes

S Shah, A Cheung, M Kutka, M Sheriff… - International Journal of …, 2022 - mdpi.com
Epithelial ovarian cancer (EOC) is one of the cancers most influenced by hereditary factors.
A fourth to a fifth of unselected EOC patients carry pathogenic variants (PVs) in a number of …

Regulatory SNPs: altered transcription factor binding sites implicated in complex traits and diseases

AO Degtyareva, EV Antontseva… - International journal of …, 2021 - mdpi.com
The vast majority of the genetic variants (mainly SNPs) associated with various human traits
and diseases map to a noncoding part of the genome and are enriched in its regulatory …

[HTML][HTML] A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes

S Mortlock, RI Corona, PF Kho, P Pharoah, JH Seo… - Cell Reports …, 2022 - cell.com
Endometriosis is associated with increased risk of epithelial ovarian cancers (EOCs). Using
data from large endometriosis and EOC genome-wide association meta-analyses, we …

Functional characterization of human genomic variation linked to polygenic diseases

T Fabo, P Khavari - Trends in Genetics, 2023 - cell.com
The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …

Copy number variants are ovarian cancer risk alleles at known and novel risk loci

AA DeVries, J Dennis, JP Tyrer, PC Peng… - JNCI: Journal of the …, 2022 - academic.oup.com
Background Known risk alleles for epithelial ovarian cancer (EOC) account for
approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been …

Leveraging genomics, transcriptomics, and epigenomics to understand the biology and chemoresistance of ovarian cancer

S Muñoz-Galván, A Carnero - Cancers, 2021 - mdpi.com
Simple Summary Ovarian cancer is the leading cause of death by a gynecological tumor,
mainly due to its common detection in advanced stages and to its high resistance to …

Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions

EO Dareng, SG Coetzee, JP Tyrer, PC Peng… - The American Journal of …, 2024 - cell.com
To identify credible causal risk variants (CCVs) associated with different histotypes of
epithelial ovarian cancer (EOC), we performed genome-wide association analysis for …

In silico enhancer mining reveals SNS-032 and EHMT2 inhibitors as therapeutic candidates in high-grade serous ovarian cancer

M Quintela, DW James, J Garcia, K Edwards… - British Journal of …, 2023 - nature.com
Background Epigenomic dysregulation has been linked to solid tumour malignancies,
including ovarian cancers. Profiling of re-programmed enhancer locations associated with …

A panel of rSNPs demonstrating allelic asymmetry in both chip-seq and RNA-seq data and the search for their phenotypic outcomes through analysis of DEGs

EE Korbolina, LO Bryzgalov, DZ Ustrokhanova… - International Journal of …, 2021 - mdpi.com
Currently, the detection of the allele asymmetry of gene expression from RNA-seq data or
the transcription factor binding from ChIP-seq data is one of the approaches used to identify …

Overexpression of NPTX2 Promotes Malignant Phenotype of Epithelial Ovarian Carcinoma via IL6-JAK2/STAT3 Signaling Pathway Under Hypoxia

X Han, Y Lu, X Li, L Xia, H Wen, Z Feng, X Ju… - Frontiers in …, 2021 - frontiersin.org
Background Epithelial ovarian cancer (EOC) is the main subtype of ovarian cancer and
shows an aggressive phenotype and poor prognosis. Neuronal pentraxin II (NPTX2) is a …