ArticlePloS one2018
Validation of a genetic risk score for Arkansas women of color.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 19 citations in OpenAlex.
- Development and performance of female breast cancer incidence risk prediction models: a systematic review and meta-analysis.Annals of medicine · 2025Pooled it
- Role of Polygenic Risk Score in Cancer Precision Medicine of Non-European Populations: A Systematic Review.Current oncology (Toronto, Ont.) · 2022Pooled it
- Breast cancer risk assessment based on susceptibility genes and polygenic risk score in Vietnamese women.BJC reports · 2024Article
- Review
- Inequities in referrals to a breast cancer risk assessment and prevention clinic: a mixed methods study.BMC primary care · 2023Article
- Validation of an Abridged Breast Cancer Risk Prediction Model for the General Population.Cancer prevention research (Philadelphia, Pa.) · 2023Article
- Breast Cancer Risk Prediction in Korean Women: Review and Perspectives on Personalized Breast Cancer Screening.Journal of breast cancer · 2020Review
- Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications.Circulation research · 2020Review
- Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.Breast cancer research : BCR · 2020Review
- Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer.Journal of personalized medicine · 2019Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
African American women in the state of Arkansas have high breast cancer mortality rates. Breast cancer risk assessment tools developed for African American underestimate breast cancer risk. Combining African American breast cancer associated single-nucleotide polymorphisms (SNPs) into breast cancer risk algorithms may improve individualized estimates of a woman's risk of developing breast cancer and enable improved recommendation of screening and chemoprevention for women at high risk. The goal of this study was to confirm with an independent dataset consisting of Arkansas women of color, whether a genetic risk score derived from common breast cancer susceptibility SNPs can be combined with a clinical risk estimate provided by the Breast Cancer Risk Assessment Tool (BCRAT) to produce a more accurate individualized breast cancer risk estimate. A population-based cohort of African American women representative of Arkansas consisted of 319 cases and 559 controls for this study. Five-year and lifetime risks from the BCRAT were measured and combined with a risk score based on 75 independent susceptibility SNPs in African American women. We used the odds ratio (OR) per adjusted standard deviation to evaluate the improvement in risk estimates produced by combining the polygenic risk score (PRS) with 5-year and lifetime risk scores estimated using BCRAT. For 5-year risk OR per standard deviation increased from 1.84 to 2.08 with the addition of the polygenic risk score and from 1.79 to 2.07 for the lifetime risk score. Reclassification analysis indicated that 13% of cases had their 5-year risk increased above the 1.66% guideline threshold (NRI = 0.020 (95% CI -0.040, 0.080)) and 6.3% of cases had their lifetime risk increased above the 20% guideline threshold by the addition of the polygenic risk score (NRI = 0.034 (95% CI 0.000, 0.070)). Our data confirmed that discriminatory accuracy of BCRAT is improved for African American women in Arkansas with the inclusion of specific SNP breast cancer risk alleles.
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