Deciphering breast cancer: from biology to the clinic

E Nolan, GJ Lindeman, JE Visvader - Cell, 2023 - cell.com
Breast cancer remains a leading cause of cancer-related mortality in women, reflecting
profound disease heterogeneity, metastasis, and therapeutic resistance. Over the last …

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 …

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Nature medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …

Improving polygenic prediction in ancestrally diverse populations

Y Ruan, YF Lin, YCA Feng, CY Chen, M Lam, Z Guo… - Nature …, 2022 - nature.com
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …

Key steps for effective breast cancer prevention

KL Britt, J Cuzick, KA Phillips - Nature Reviews Cancer, 2020 - nature.com
Despite decades of laboratory, epidemiological and clinical research, breast cancer
incidence continues to rise. Breast cancer remains the leading cancer-related cause of …

Development of a clinical polygenic risk score assay and reporting workflow

L Hao, P Kraft, GF Berriz, ED Hynes, C Koch… - Nature medicine, 2022 - nature.com
Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but poses several challenges: the construction of clinically valid assays …

A new method for multiancestry polygenic prediction improves performance across diverse populations

H Zhang, J Zhan, J Jin, J Zhang, W Lu, R Zhao… - Nature …, 2023 - nature.com
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal
performance in non-European populations raise concerns about clinical applications and …

Advancing the use of genome-wide association studies for drug repurposing

WR Reay, MJ Cairns - Nature Reviews Genetics, 2021 - nature.com
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

AC Fahed, M Wang, JR Homburger, AP Patel… - Nature …, 2020 - nature.com
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …

Polygenic risk scores: from research tools to clinical instruments

CM Lewis, E Vassos - Genome medicine, 2020 - Springer
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …