ArticleBreast cancer research and treatment2018
Genetic variants demonstrating flip-flop phenomenon and breast cancer risk prediction among women of African ancestry.
Article in Breast cancer research and treatment, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Role of Polygenic Risk Score in Cancer Precision Medicine of Non-European Populations: A Systematic Review.Current oncology (Toronto, Ont.) · 2022Pooled it
- "Yet the Problem Remains": Why Genetic Determinism Still Haunts Biomedical Research.Bioethics · 2026Article
- Polygenic Risk Scores for Breast Cancer Among African American Women With High Risk.JAMA network open · 2026Article
- Barrett's esophagus-associated genetic loci in African Americans: a case-control study using the All of Us Research Program.European journal of gastroenterology & hepatology · 2026Observational
- Within-family analysis of PRSJournal, genetic engineering & biotechnology · 2025Article
- Healthy lifestyles, screening, and breast cancer mortality in women with different risk of disease.The oncologist · 2025Article
- Genetic and Nongenetic Risk Factors for Breast Cancer Risk Estimation.JAMA network open · 2025Observational
- Article
- 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
- Differences in the distribution of HER2-positive breast tumors according to ethnicity and genetic variants inFrontiers in oncology · 2025Review
- A polygenic resilience score moderates the genetic risk for schizophrenia: Replication in 18,090 cases and 28,114 controls from the Psychiatric Genomics Consortium.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2024Article
- Genetic risk for hospitalization of African American patients with severe mental illness reveals HLA loci.Frontiers in psychiatry · 2024Article
- Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.Journal of medical genetics · 2023Article
- Review
- Integration of a Cross-Ancestry Polygenic Model With Clinical Risk Factors Improves Breast Cancer Risk Stratification.JCO precision oncology · 2023Article
- Polygenic risk scores and breast cancer risk prediction.Breast (Edinburgh, Scotland) · 2023Review
- Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition.JCO precision oncology · 2022Article
- Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome.International journal of cancer · 2022Article
- Testing the generalizability of ancestry-specific polygenic risk scores to predict prostate cancer in sub-Saharan Africa.Genome biology · 2022Article
- Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.Human molecular genetics · 2022Article
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13 authors.
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Abstract
backgroundFew studies have evaluated the performance of existing breast cancer risk prediction models among women of African ancestry. In replication studies of genetic variants, a change in direction of the risk association is a common phenomenon. Termed flip-flop, it means that a variant is risk factor in one population but protective in another, affecting the performance of risk prediction models.
methodsWe used data from the genome-wide association study (GWAS) of breast cancer in the African diaspora (The Root consortium), which included 3686 participants of African ancestry from Nigeria, USA, and Barbados. Polygenic risk scores (PRSs) were constructed from the published odds ratios (ORs) of four sets of susceptibility loci for breast cancer. Discrimination capacity was measured using the area under the receiver operating characteristic curve (AUC).
resultsFlip-flop phenomenon was observed among 30~40% of variants across studies. Using the 34 variants with consistent directionality among previous studies, we constructed a PRS with AUC of 0.531 (95% confidence interval [CI]: 0.512-0.550), which is similar to the PRS using 93 variants and ORs from European ancestry populations (AUC = 0.525, 95% CI: 0.506-0.544). Additionally, we found the 34-variant PRS has good discriminative accuracy in women with family history of breast cancer (AUC = 0.586, 95% CI: 0.532-0.640).
conclusionsWe found that PRS based on variants identified from prior GWASs conducted in women of European and Asian ancestries did not provide a comparable degree of risk stratification for women of African ancestry. Further large-scale fine-mapping studies in African ancestry populations are desirable to discover population-specific genetic risk variants.
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