Chapter 2 – Polygenic risk scores: A conceptual overview to add PRS to your clinical toolbox

Erika Spaeth
Editor(s): Laura Kelly, William P. Stanford
Implementation of Personalized Precision Medicine, Academic Press, 2025, Pages 23-33

RISE UP for Breast Cancer Abstract: Real-world example of breast cancer risk assessment as gateway to multi-disease risk stratification

Spaeth E, Whiting L. 2024. RISE UP for breast cancer abstract collection. Breast Cancer Res Treat (2025). https://doi.org/10.1007/s10549-025-07692-9

SABCS Abstract: Decision curve analysis to compare breast cancer risk predictions for a polygenic integrated clinical risk model with those of a gold standard

Spaeth E, Rosner B, Dite GS. Cancer Res (2024) 84 (9_Supplement): PO3-08-01.

Predicting 10-Year Risk of Pancreatic Cancer Using a Combined Genetic and Clinical Model

Dite GS, Spaeth E, Wong CK, Murphy NM, Allman R. Gastro Hep Adv. 2023 Jun 12;2(7):979-989.

Melanoma risk prediction based on a polygenic risk score and clinical risk factors

Wong CK, Dite GS, Spaeth E, Murphy NM, Allman R. [published online ahead of print, 2023 Apr 24]. Melanoma Res. 2023;10.1097/CMR.0000000000000896.

Development and validation of a simple prostate cancer risk prediction model based on age, family history, and polygenic risk

Dite GS, Spaeth E, Murphy N, Allman R. The Prostate. 2023. https://doi.org/10.1002/pros.24537

Validation of an abridged breast cancer risk prediction model for the general population

Spaeth E, Dite GS, Hopper JL, Allman R. Cancer Prev Res. 2023. DOI: 10.1158/1940-6207.CAPR-22-0460

Validation of a breast cancer risk prediction model based on the key risk factors: family history, mammographic density and polygenic risk

Allman R, Mu Y, Dite G, Spaeth E, Hopper J, Rosner B. (2023). Breast Cancer Res Treat. DOI: 10.1007/s10549-022-06834-7

ASCOGI Abstract: Improvement of a clinical colorectal cancer risk prediction model integrating polygenic risk

Erika Spaeth Tuff, Aviv Gafni, Gillian S. Dite, Richard Allman. J Clin Oncol. 2023;41(4_suppl):81. DOI: 10.1200/JCO.2023.41.4_suppl.81

Polygenic risk scores for cardiovascular diseases and type 2 diabetes

Wong CK, Makalic E, Dite GS, Whiting L, Murphy NM, et al. (2022). PLOS ONE. 17(12): e0278764.

A combined clinical and genetic model for predicting risk of ovarian cancer

Dite GS, Spaeth E, Murphy NM, Allman R. Eur J Cancer Prev. 2023;32(1):57-64.

SABCS Abstract: Validation of abridged breast cancer risk assessment model for the general population

Spaeth E, Dite GS, Allman R
Cancer Res (2022) 82 (4_Supplement): P2-10-06.

Validation of a clinical and genetic model for predicting severe COVID-19

Dite GS, Murphy NM, Spaeth E, Allman R, Lifelines Corona Research Initiative
Epidemiol Infect. 2022 Apr 25;150:1-15.

The health effects in the US of quarantine policies based on predicted individual risk of severe COVID-19 outcomes.

Sam Lovick, Gillian S. Dite, Richard Allman. medRxiv 2021.03.21.21254065

A streamlined model for use in clinical breast cancer risk assessment maintains predictive power and is further improved with inclusion of a polygenic risk score.

Allman R, Spaeth E, Lai J, Gross SJ, Hopper JL.
PLoS One. 2021 Jan 22;16(1):e0245375. doi: 10.1371/journal.pone.0245375. eCollection 2021.

An integrated clinical and genetic model for predicting risk of severe COVID-19: A population-based case-control study.

Dite GS, Murphy NM, Allman R.
PLoS One. 2021 Feb 16;16(2):e0247205. doi: 10.1371/journal.pone.0247205. eCollection 2021.

Ability of known colorectal cancer susceptibility SNPs to predict colorectal cancer risk: A cohort study within the UK Biobank.

Gafni A, Dite GS, Spaeth Tuff E, Allman R, Hopper JL.
PLoS One. 2021 Sep 15;16(9):e0251469. doi: 10.1371/journal.pone.0251469. eCollection 2021.

Development and validation of a clinical and genetic model for predicting risk of severe COVID-19.

Dite GS, Murphy NM, Allman R.
Epidemiol Infect. 2021 Jul 2;149:e162. doi: 10.1017/S095026882100145X.

Bridging the Data Gap in Breast Cancer Risk Assessment to Enable Widespread Clinical Implementation across the Multiethnic Landscape of the US.

Spaeth E, Starlard-Davenport A, Allman R.
J Cancer Treatment Diagn. 2018;2(4):1-6. doi: 10.29245/2578-2967/2018/4.1137. Epub 2018 Aug 3.

Validation of a genetic risk score for Arkansas women of color.

Starlard-Davenport A, Allman R, Dite GS, Hopper JL, Spaeth Tuff E, Macleod S, Kadlubar S, Preston M, Henry-Tillman R.
PLoS One. 2018 Oct 3;13(10):e0204834. doi: 10.1371/journal.pone.0204834. eCollection 2018.

Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry.

Dite GS, MacInnis RJ, Bickerstaffe A, Dowty JG, Allman R, Apicella C, Milne RL, Tsimiklis H, Phillips KA, Giles GG, Terry MB, Southey MC, Hopper JL.
Cancer Epidemiol Biomarkers Prev. 2016 Feb;25(2):359-65. doi: 10.1158/1055-9965.EPI-15-0838. Epub 2015 Dec 16.

SNPs and breast cancer risk prediction for African American and Hispanic women.

Allman R, Dite GS, Hopper JL, Gordon O, Starlard-Davenport A, Chlebowski R, Kooperberg C.
Breast Cancer Res Treat. 2015 Dec;154(3):583-9. doi: 10.1007/s10549-015-3641-7. Epub 2015 Nov 20.

Economic evaluation of using a genetic test to direct breast cancer chemoprevention in white women with a previous breast biopsy.

Green LE, Dinh TA, Hinds DA, Walser BL, Allman R (2014). Applied Health Economics & Health Policy. 12(2): 203-17

Cost-effectiveness of a genetic test for breast cancer risk.

Folse HJ, Green LE, Kress A, Allman R, Dinh TA.
Cancer Prev Res (Phila). 2013 Dec;6(12):1328-36. doi: 10.1158/1940-6207.CAPR-13-0056.