Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
Publication Title
medRxiv
Document Type
Article
Publication Date
3-4-2024
Keywords
oregon; medford; genomics
Abstract
BACKGROUND: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of
METHODS: We analyzed >22 million variants for 398,238 women. Associations were assessed separately by consortium and meta-analysed. OCAC and CIMBA data were used to develop PGS which were trained on FinnGen data and validated in UKBB and BioBank Japan.
RESULTS: Eight novel variants were associated with HGSOC risk. An interesting discovery biologically was finding that
CONCLUSIONS: This study represents the largest GWAS for HGSOC to date. The results highlight that improvements in imputation reference panels and increased sample sizes can identify HGSOC associated variants that previously went undetected, resulting in improved PGS. The use of updated PGS in cancer risk prediction algorithms will then improve personalized risk prediction for HGSOC.
Area of Special Interest
Women & Children
Area of Special Interest
Cancer
Specialty/Research Institute
Obstetrics & Gynecology
Specialty/Research Institute
Oncology
Specialty/Research Institute
Epidemiology
DOI
10.1101/2024.02.29.24303243
