ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2016
Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 2 of them syntheses that pooled it.
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68 citing papers in PubMed, 2 syntheses or guidelines pooled it, 117 citations in OpenAlex.
- Assessment of performance of the Gail model for predicting breast cancer risk: a systematic review and meta-analysis with trial sequential analysis.Breast cancer research : BCR · 2018Pooled it
- Prediction models for the development of COPD: a systematic review.International journal of chronic obstructive pulmonary disease · 2018Pooled it
- Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study.BMC cancer · 2017Trial
- Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2017Trial
- Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management.JCO precision oncology · 2025Article
- Review
- Causation and familial confounding as explanations for the associations of polygenic risk scores with breast cancer: Evidence from innovative ICE FALCON and ICE CRISTAL analyses.Genetic epidemiology · 2024Article
- ReClassification of Patients with Ambiguous CA125 for Optimised Pre-Surgical Triage.Diagnostics (Basel, Switzerland) · 2024Article
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- Addition of polygenic risk score to a risk calculator for prediction of breast cancer in US Black women.Breast cancer research : BCR · 2024Article
- The Prognostic Quality of Risk Prediction Models to Assess the Individual Breast Cancer Risk in Women: An Overview of Reviews.The breast journal · 2024Review
- Review
- Variance of age-specific log incidence decomposition (VALID): a unifying model of measured and unmeasured genetic and non-genetic risks.International journal of epidemiology · 2023Article
- Clinical utility of polygenic risk scores: a critical 2023 appraisal.Journal of community genetics · 2023Article
- Article
- Validation of an Abridged Breast Cancer Risk Prediction Model for the General Population.Cancer prevention research (Philadelphia, Pa.) · 2023Article
- Validation of a breast cancer risk prediction model based on the key risk factors: family history, mammographic density and polygenic risk.Breast cancer research and treatment · 2023Article
- Polygenic risk scores and breast cancer risk prediction.Breast (Edinburgh, Scotland) · 2023Review
- Integration of a Cross-Ancestry Polygenic Model With Clinical Risk Factors Improves Breast Cancer Risk Stratification.JCO precision oncology · 2023Article
- Risk Association of Liver Cancer and Hepatitis B with Tree Ensemble and Lifestyle Features.International journal of environmental research and public health · 2022Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundThe extent to which clinical breast cancer risk prediction models can be improved by including information on known susceptibility SNPs is not known.
methodsUsing 750 cases and 405 controls from the population-based Australian Breast Cancer Family Registry who were younger than 50 years at diagnosis and recruitment, respectively, Caucasian and not BRCA1 or BRCA2 mutation carriers, we derived absolute 5-year risks of breast cancer using the BOADICEA, BRCAPRO, BCRAT, and IBIS risk prediction models and combined these with a risk score based on 77 independent risk-associated SNPs. We used logistic regression to estimate the OR per adjusted SD for log-transformed age-adjusted 5-year risks. Discrimination was assessed by the area under the receiver operating characteristic curve (AUC). Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test. We also constructed reclassification tables and calculated the net reclassification improvement.
resultsThe ORs for BOADICEA, BRCAPRO, BCRAT, and IBIS were 1.80, 1.75, 1.67, and 1.30, respectively. When combined with the SNP-based score, the corresponding ORs were 1.96, 1.89, 1.80, and 1.52. The corresponding AUCs were 0.66, 0.65, 0.64, and 0.57 for the risk prediction models, and 0.70, 0.69, 0.66, and 0.63 when combined with the SNP-based score.
conclusionsBy combining a 77 SNP-based score with clinical models, the AUC for predicting breast cancer before age 50 years improved by >20%. IMPACT: Our estimates of the increased performance of clinical risk prediction models from including genetic information could be used to inform targeted screening and prevention.
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