Southey MC

No ORCID on file · 6 papers in corpus · active 2015-2024

Study types

  • other 1

Condition tags

  • endometriosis 1
2024
Human genetics ·doi:10.1007/s00439-024-02707-9

Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a …

2024
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
European journal of human genetics : EJHG ·doi:10.1038/s41431-021-00987-7

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard…

2019
Nature genetics ·doi:10.1038/s41588-018-0286-6

To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome…

2018
Nature communications ·doi:10.1038/s41467-018-05427-7

Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we…

other 2015
Journal of genetics and genome research ·doi:10.23937/2378-3648/1410017

Disruption in circadian gene expression, whether due to genetic variation or environmental factors (e.g., light at night, shiftwork), is associated with increased incidence of breast, prostate, gastrointestinal and hematologic cancers and g…