Principles and methods for transferring polygenic risk scores across global populations
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 …
or disease and may become a valuable tool for advancing precision medicine. However …
A new method for multiancestry polygenic prediction improves performance across diverse populations
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal
performance in non-European populations raise concerns about clinical applications and …
performance in non-European populations raise concerns about clinical applications and …
Genome-wide risk prediction of common diseases across ancestries in one million people
Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
An overview of genetic services delivery for hereditary breast cancer
S Reid, LB Spalluto, K Lang, A Weidner… - Breast cancer research and …, 2022 - Springer
Breast cancer is the most common cancer diagnosed in women worldwide, with
approximately 5–10% of cases attributed to high penetrance hereditary breast cancer (HBC) …
approximately 5–10% of cases attributed to high penetrance hereditary breast cancer (HBC) …
Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction
We performed genome-wide association studies of breast cancer including 18,034 cases
and 22,104 controls of African ancestry. Genetic variants at 12 loci were associated with …
and 22,104 controls of African ancestry. Genetic variants at 12 loci were associated with …
Generalizability of polygenic risk scores for breast cancer among women with European, African, and Latinx ancestry
Importance Multiple polygenic risk scores (PRSs) for breast cancer have been developed
from large research consortia; however, their generalizability to diverse clinical settings is …
from large research consortia; however, their generalizability to diverse clinical settings is …
The importance of ethnicity: are breast cancer polygenic risk scores ready for women who are not of White European origin?
DG Evans, EM van Veen, H Byers… - … journal of cancer, 2022 - Wiley Online Library
Polygenic risk scores (PRS) for disease risk stratification show great promise for application
in general populations, but most are based on data from individuals of White European …
in general populations, but most are based on data from individuals of White European …
Incorporating alternative polygenic risk scores into the BOADICEA breast cancer risk prediction model
N Mavaddat, L Ficorella, T Carver, A Lee… - … Biomarkers & Prevention, 2023 - AACR
Background: The multifactorial risk prediction model BOADICEA enables identification of
women at higher or lower risk of developing breast cancer. BOADICEA models genetic …
women at higher or lower risk of developing breast cancer. BOADICEA models genetic …
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases
IMM Lakeman, MDM Rodríguez-Girondo… - Journal of medical …, 2023 - jmg.bmj.com
Background Common low-risk variants are presently not used to guide clinical management
of familial breast cancer (BC). We explored the additive impact of a 313-variant-based …
of familial breast cancer (BC). We explored the additive impact of a 313-variant-based …
A validated risk prediction model for breast cancer in US black women
PURPOSE Breast cancer risk prediction models are used to identify high-risk women for
early detection, targeted interventions, and enrollment into prevention trials. We sought to …
early detection, targeted interventions, and enrollment into prevention trials. We sought to …