Plummer JT

ORCID: 0000-0001-7263-350X · 3 papers in corpus
2024
Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.
American journal of human genetics ·doi:10.1016/j.ajhg.2024.04.011

To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases an…

2022
Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
Journal of the National Cancer Institute ·doi:10.1093/jnci/djac160

BackgroundKnown risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles in a large population cohort.MethodsSingl…

2020
Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites.
American journal of human genetics ·doi:10.1016/j.ajhg.2020.08.021

Quantifying the functional effects of complex disease risk variants can provide insights into mechanisms underlying disease biology. Genome-wide association studies have identified 39 regions associated with risk of epithelial ovarian cance…