ArticleBMC medicine2022
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Article in BMC medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Genomic platform specific polygenic risk scores impact breast cancer risk stratification.Communications medicine · 2025Article
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- Profile of the BREATHE cohort for risk-based breast screening in Singapore.Scientific reports · 2025Article
- Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.medRxiv : the preprint server for health sciences · 2025Article
- Women's preferences for testing to predict breast cancer risk - a discrete choice experiment.Journal of translational medicine · 2025Article
- Do women with a history of breast cancer recommend risk-based breast cancer screening? An in-depth interview study.Frontiers in psychology · 2025Article
- What do women want to see in a personalized breast cancer risk report? A qualitative study of Asian women of two countries.Journal of community genetics · 2024Article
- Functions and mechanisms of RNA mInternational journal of oncology · 2024Review
- Global burden of female breast cancer and its association with socioeconomic development status, 1990-2044.Cancer reports (Hoboken, N.J.) · 2023Article
- Will Absolute Risk Estimation for Time to Next Screen Work for an Asian Mammography Screening Population?Cancers · 2023Article
- Article
- Breast Cancer in Asia: Incidence, Mortality, Early Detection, Mammography Programs, and Risk-Based Screening Initiatives.Cancers · 2022Review
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Authors and funding
36 authors at 15 institutions in 4 countries.
Funding
Abstract
backgroundFamily history, and genetic and non-genetic risk factors can stratify women according to their individual risk of developing breast cancer. The extent of overlap between these risk predictors is not clear.
methodsIn this case-only analysis involving 7600 Asian breast cancer patients diagnosed between age 30 and 75 years, we examined identification of high-risk patients based on positive family history, the Gail model 5-year absolute risk [5yAR] above 1.3%, breast cancer predisposition genes (protein-truncating variants [PTV] in ATM, BRCA1, BRCA2, CHEK2, PALB2, BARD1, RAD51C, RAD51D, or TP53), and polygenic risk score (PRS) 5yAR above 1.3%.
resultsCorrelation between 5yAR (at age of diagnosis) predicted by PRS and the Gail model was low (r=0.27). Fifty-three percent of breast cancer patients (n=4041) were considered high risk by one or more classification criteria. Positive family history, PTV carriership, PRS, or the Gail model identified 1247 (16%), 385 (5%), 2774 (36%), and 1592 (21%) patients who were considered at high risk, respectively. In a subset of 3227 women aged below 50 years, the four models studied identified 470 (15%), 213 (7%), 769 (24%), and 325 (10%) unique patients who were considered at high risk, respectively. For younger women, PRS and PTVs together identified 745 (59% of 1276) high-risk individuals who were not identified by the Gail model or family history.
conclusionsFamily history and genetic and non-genetic risk stratification tools have the potential to complement one another to identify women at high risk.
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