Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

The future of early cancer detection

RC Fitzgerald, AC Antoniou, L Fruk, N Rosenfeld - Nature medicine, 2022 - nature.com
A proactive approach to detecting cancer at an early stage can make treatments more
effective, with fewer side effects and improved long-term survival. However, as detection …

Breast cancer screening for women at higher-than-average risk: updated recommendations from the ACR

DL Monticciolo, MS Newell, L Moy, CS Lee… - Journal of the American …, 2023 - Elsevier
Early detection decreases breast cancer death. The ACR recommends annual screening
beginning at age 40 for women of average risk and earlier and/or more intensive screening …

Improving reporting standards for polygenic scores in risk prediction studies

H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

NJ Lennon, LC Kottyan, C Kachulis, NS Abul-Husn… - Nature Medicine, 2024 - nature.com
Polygenic risk scores (PRSs) have improved in predictive performance, but several
challenges remain to be addressed before PRSs can be implemented in the clinic, including …

Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study

X Yang, M Eriksson, K Czene, A Lee, G Leslie… - Journal of medical …, 2022 - jmg.bmj.com
Background The multifactorial Breast and Ovarian Analysis of Disease Incidence and
Carrier Estimation Algorithm (BOADICEA) breast cancer risk prediction model has been …

Polygenic scores in cancer

X Yang, S Kar, AC Antoniou, PDP Pharoah - Nature reviews Cancer, 2023 - nature.com
Since the publication of the first genome-wide association study for cancer in 2007,
thousands of common alleles that are associated with the risk of cancer have been …

Recent advances in polygenic scores: translation, equitability, methods and FAIR tools

R Xiang, M Kelemen, Y Xu, LW Harris, H Parkinson… - Genome Medicine, 2024 - Springer
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals' genetic
predisposition to disease, and many potentially clinically useful applications have been …

Proactive breast cancer risk assessment in primary care: a review based on the principles of screening

JA Usher-Smith, S Hindmarch, DP French… - British Journal of …, 2023 - nature.com
In the UK, the National Institute for Health and Care Excellence (NICE) recommends that
women at moderate or high risk of breast cancer be offered risk-reducing medication and …

Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors

TM Gibson, DM Karyadi, SW Hartley, MA Arnold… - Nature medicine, 2024 - nature.com
Survivors of childhood cancer are at increased risk for subsequent cancers attributable to
the late effects of radiotherapy and other treatment exposures; thus, further understanding of …