Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …

Breast cancer screening in the precision medicine era: risk-based screening in a population-based trial

Y Shieh, M Eklund, L Madlensky… - Journal of the …, 2017 - academic.oup.com
Ongoing controversy over the optimal approach to breast cancer screening has led to
discordant professional society recommendations, particularly in women age 40 to 49 years …

[HTML][HTML] Polygenic risk scores and breast cancer risk prediction

E Roberts, S Howell, DG Evans - The Breast, 2023 - Elsevier
Abstract Polygenic Risk Scores (PRS) are a major component of accurate breast cancer risk
prediction and have the potential to improve screening and prevention strategies. PRS …

10-year performance of four models of breast cancer risk: a validation study

MB Terry, Y Liao, AS Whittemore, N Leoce… - The Lancet …, 2019 - thelancet.com
Background Independent validation is essential to justify use of models of breast cancer risk
prediction and inform decisions about prevention options and screening. Few independent …

Common genetic variation and breast cancer risk—past, present, and future

J Lilyquist, KJ Ruddy, CM Vachon, FJ Couch - … Epidemiology, Biomarkers & …, 2018 - AACR
Breast cancer is the most common cancer among women in the United States, with up to
30% of those diagnosed displaying a family history of breast cancer. To date, 18% of the …

Association of a polygenic risk score with breast cancer among women carriers of high-and moderate-risk breast cancer genes

S Gallagher, E Hughes, S Wagner, P Tshiaba… - JAMA network …, 2020 - jamanetwork.com
Importance To date, few studies have examined the extent to which polygenic single-
nucleotide variation (SNV)(formerly single-nucleotide polymorphism) scores modify risk for …

Clinical utility of polygenic risk scores: a critical 2023 appraisal

S Koch, J Schmidtke, M Krawczak… - Journal of Community …, 2023 - Springer
Since their first appearance in the context of schizophrenia and bipolar disorder in 2009,
polygenic risk scores (PRSs) have been described for a large number of common complex …

Breast cancer risk prediction using a clinical risk model and polygenic risk score

Y Shieh, D Hu, L Ma, S Huntsman, CC Gard… - Breast cancer research …, 2016 - Springer
Breast cancer risk assessment can inform the use of screening and prevention modalities.
We investigated the performance of the Breast Cancer Surveillance Consortium (BCSC) risk …

Use of single-nucleotide polymorphisms and mammographic density plus classic risk factors for breast cancer risk prediction

EM van Veen, AR Brentnall, H Byers… - JAMA …, 2018 - jamanetwork.com
Importance Single-nucleotide polymorphisms (SNPs) have demonstrated an association
with breast cancer susceptibility, but there is limited evidence on how to incorporate them …

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

T Yanes, MA Young, B Meiser, PA James - Breast Cancer Research, 2020 - Springer
Polygenic factors are estimated to account for an additional 18% of the familial relative risk
of breast cancer, with those at the highest level of polygenic risk distribution having a least a …