ArticlePloS one2013
Evaluating genome-wide association study-identified breast cancer risk variants in African-American women.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 52 papers, 4 of them syntheses that pooled it.
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Who cites it
52 citing papers in PubMed, 4 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Association of telomerase reverse transcriptase gene rs10069690 variant with cancer risk: an updated meta-analysis.BMC cancer · 2024Pooled it
- TERT rs10069690 polymorphism and cancers risk: A meta-analysis.Molecular genetics & genomic medicine · 2019Pooled it
- A systematic analysis of the association studies between CASP8 D302H polymorphisms and breast cancer risk.Journal of genetics · 2017Pooled it
- Association of three SNPs in TOX3 and breast cancer risk: Evidence from 97275 cases and 128686 controls.Scientific reports · 2015Pooled it
- Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.Human molecular genetics · 2016Trial
- Breast cancer inequities: the intersectional role of social epidemiology and tumor biology.Cancer causes & control : CCC · 2026Review
- Mendelian randomization analysis of CpG methylation and immune phenotypes in epithelial ovarian cancer outcomes.Epigenetics · 2025Article
- Genome-wide association study identifies common variants associated with breast cancer in South African Black women.Nature communications · 2025Article
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- The Long Non-Coding RNA ANRIL in Cancers.Cancers · 2023Review
- Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- RNA m6A methylation regulators in ovarian cancer.Cancer cell international · 2021Review
- Rare Coding Variants Associated with Breast Cancer.Advances in experimental medicine and biology · 2021Article
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- The Identification of Critical mFrontiers in genetics · 2020Article
- FAM46B Promotes Apoptosis and Inhibits Glycolysis of Prostate Cancer Through Inhibition of the MYC-LDHA Axis.OncoTargets and therapy · 2020Article
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- Racial Differences in the Oral Microbiome: Data from Low-Income Populations of African Ancestry and European Ancestry.mSystems · 2019Article
Corrections and comments
- Erratum issuedMichailiou, Kyriaki [corrected to Michailidou, Kyriaki]
Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
Genome-wide association studies (GWAS), conducted mostly in European or Asian descendants, have identified approximately 67 genetic susceptibility loci for breast cancer. Given the large differences in genetic architecture between the African-ancestry genome and genomes of Asians and Europeans, it is important to investigate these loci in African-ancestry populations. We evaluated index SNPs in all 67 breast cancer susceptibility loci identified to date in our study including up to 3,300 African-American women (1,231 cases and 2,069 controls), recruited in the Southern Community Cohort Study (SCCS) and the Nashville Breast Health Study (NBHS). Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). A marginally significant association (P<0.10) was found for three additional SNPs: rs1045485 (2q33/CASP8), rs4849887 (2q14/INHBB), and rs4808801 (19p13/ELL). Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. The risk of breast cancer was elevated with an increasing number of risk variants, as measured by quintile of the genetic risk score, from 1.00 (reference), to 1.75 (1.30-2.37), 1.56 (1.15-2.11), 2.02 (1.50-2.74) and 2.63 (1.96-3.52), respectively, (P = 7.8 × 10(-10)). Results from this study highlight the need for large genetic studies in AAs to identify risk variants impacting this population.
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