ArticleBreast cancer research : BCR2016
Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry.
Article in Breast cancer research : BCR, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 3 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 3 syntheses or guidelines pooled it, 78 citations in OpenAlex.
- Role of Polygenic Risk Score in Cancer Precision Medicine of Non-European Populations: A Systematic Review.Current oncology (Toronto, Ont.) · 2022Pooled it
- Incorporating European GWAS findings improve polygenic risk prediction accuracy of breast cancer among East Asians.Genetic epidemiology · 2021Pooled it
- Clinical practice guidelines for risk assessment to identify women at high risk of breast cancer: Chinese Society of Breast Surgery (CSBrS) practice guidelines 2021.Chinese medical journal · 2021Guideline
- Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial.Genome medicine · 2025Trial
- A reanalysis of a genome-wide association study on breast cancer in Asian populations using the SG10K_Health reference panel for imputation: a multi-Centre case-control analysis.Human molecular genetics · 2026Article
- Article
- A survey on deep learning for polygenic risk scores.Briefings in bioinformatics · 2025Review
- 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
- Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Breast cancer risk assessment based on susceptibility genes and polygenic risk score in Vietnamese women.BJC reports · 2024Article
- Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.Nature genetics · 2024Article
- Review
- Polygenic scores in cancer.Nature reviews. Cancer · 2023Review
- Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Polygenic risk scores for prediction of breast cancer in Korean women.International journal of epidemiology · 2023Article
- Machine learning algorithms to uncover risk factors of breast cancer: insights from a large case-control study.Frontiers in oncology · 2023Article
- Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition.JCO precision oncology · 2022Article
- Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.Human molecular genetics · 2022Article
- Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.BMC medicine · 2022Article
- Genome-wide risk prediction of common diseases across ancestries in one million people.Cell genomics · 2022Article
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Authors and funding
35 authors at 19 institutions in 12 countries.
Funding
Abstract
backgroundApproximately 100 common breast cancer susceptibility alleles have been identified in genome-wide association studies (GWAS). The utility of these variants in breast cancer risk prediction models has not been evaluated adequately in women of Asian ancestry.
methodsWe evaluated 88 breast cancer risk variants that were identified previously by GWAS in 11,760 cases and 11,612 controls of Asian ancestry. SNPs confirmed to be associated with breast cancer risk in Asian women were used to construct a polygenic risk score (PRS). The relative and absolute risks of breast cancer by the PRS percentiles were estimated based on the PRS distribution, and were used to stratify women into different levels of breast cancer risk.
resultsWe confirmed significant associations with breast cancer risk for SNPs in 44 of the 78 previously reported loci at P < 0.05. Compared with women in the middle quintile of the PRS, women in the top 1% group had a 2.70-fold elevated risk of breast cancer (95% CI: 2.15-3.40). The risk prediction model with the PRS had an area under the receiver operating characteristic curve of 0.606. The lifetime risk of breast cancer for Shanghai Chinese women in the lowest and highest 1% of the PRS was 1.35% and 10.06%, respectively.
conclusionApproximately one-half of GWAS-identified breast cancer risk variants can be directly replicated in East Asian women. Collectively, common genetic variants are important predictors for breast cancer risk. Using common genetic variants for breast cancer could help identify women at high risk of breast cancer.
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