Ngeow J

ORCID: 0000-0003-1558-3627 · 2 papers in corpus · active 2020-2022
2022
Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
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…

2020
Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.
Human genome variation ·doi:10.1038/s41439-020-00111-z

Mobile element insertions (MEIs) contribute to genomic diversity, but they can be responsible for human disease in some cases. Initial clinical testing (BRCA1, BRCA2 and PALB2) in a 40-year-old female with unilateral breast cancer did not d…