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 …
Personalized early detection and prevention of breast cancer: ENVISION consensus statement
N Pashayan, AC Antoniou, U Ivanus… - Nature reviews Clinical …, 2020 - nature.com
Abstract The European Collaborative on Personalized Early Detection and Prevention of
Breast Cancer (ENVISION) brings together several international research consortia working …
Breast Cancer (ENVISION) brings together several international research consortia working …
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
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 …
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries
This article provides an update on the global cancer burden using the GLOBOCAN 2020
estimates of cancer incidence and mortality produced by the International Agency for …
estimates of cancer incidence and mortality produced by the International Agency for …
Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers
Polygenic risk scores (PRSs) have shown promise in predicting susceptibility to common
diseases,–. We estimated their added value in clinical risk prediction of five common …
diseases,–. We estimated their added value in clinical risk prediction of five common …
The current status of risk-stratified breast screening
Apart from high-risk scenarios such as the presence of highly penetrant genetic mutations,
breast screening typically comprises mammography or tomosynthesis strategies defined by …
breast screening typically comprises mammography or tomosynthesis strategies defined by …
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis
E Di Maria, A Latini, P Borgiani, G Novelli - Human genomics, 2020 - Springer
The COVID-19 pandemic has strengthened the interest in the biological mechanisms
underlying the complex interplay between infectious agents and the human host. The …
underlying the complex interplay between infectious agents and the human host. The …
Electronic health records and polygenic risk scores for predicting disease risk
Accurate prediction of disease risk based on the genetic make-up of an individual is
essential for effective prevention and personalized treatment. Nevertheless, to date …
essential for effective prevention and personalized treatment. Nevertheless, to date …
A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening
YQ He, TM Wang, M Ji, ZM Mai, M Tang… - Nature …, 2022 - nature.com
Polygenic risk scores (PRS) have the potential to identify individuals at risk of diseases,
optimizing treatment, and predicting survival outcomes. Here, we construct and validate a …
optimizing treatment, and predicting survival outcomes. Here, we construct and validate a …
Risk of breast cancer among carriers of pathogenic variants in breast cancer predisposition genes varies by polygenic risk score
PURPOSE This study assessed the joint association of pathogenic variants (PVs) in breast
cancer (BC) predisposition genes and polygenic risk scores (PRS) with BC in the general …
cancer (BC) predisposition genes and polygenic risk scores (PRS) with BC in the general …