ArticleCarcinogenesis2013
Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers.
Article in Carcinogenesis, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Breast Cancer Research in the Caribbean: Analysis of Reports From 1975 to 2017.Journal of global oncology · 2018Pooled it
- Pooled it
- Genomic landscape of cancer in racially and ethnically diverse populations.Nature reviews. Genetics · 2025Review
- Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.Nature genetics · 2025Observational
- Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.Nature genetics · 2024Article
- Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition.JCO precision oncology · 2022Article
- Breast Cancer Risk Prediction in Korean Women: Review and Perspectives on Personalized Breast Cancer Screening.Journal of breast cancer · 2020Review
- Genetic variation in the Hippo pathway and breast cancer risk in women of African ancestry.Molecular carcinogenesis · 2018Article
- Evaluation of three polygenic risk score models for the prediction of breast cancer risk in Singapore Chinese.Oncotarget · 2018Article
- Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2017Article
- Leveraging functional annotations in genetic risk prediction for human complex diseases.PLoS computational biology · 2017Article
- Association of multiple genetic variants with breast cancer susceptibility in the Han Chinese population.Oncotarget · 2016Article
- Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry.Human genetics · 2016Article
- An exome-wide analysis of low frequency and rare variants in relation to risk of breast cancer in African American Women: the AMBER Consortium.Carcinogenesis · 2016Article
- Article
- Hormone-related pathways and risk of breast cancer subtypes in African American women.Breast cancer research and treatment · 2015Article
- Genetic variants in one-carbon metabolism genes and breast cancer risk in European American and African American women.International journal of cancer · 2015Article
- Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- A comprehensive examination of breast cancer risk loci in African American women.Human molecular genetics · 2014Article
- Building capacity for sustainable research programmes for cancer in Africa.Nature reviews. Clinical oncology · 2014Review
Corrections and comments
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Authors and funding
22 authors at 11 institutions in 5 countries.
Funding
Abstract
Numerous single nucleotide polymorphisms (SNPs) associated with breast cancer susceptibility have been identified by genome-wide association studies (GWAS). However, these SNPs were primarily discovered and validated in women of European and Asian ancestry. Because linkage disequilibrium is ancestry-dependent and heterogeneous among racial/ethnic populations, we evaluated common genetic variants at 22 GWAS-identified breast cancer susceptibility loci in a pooled sample of 1502 breast cancer cases and 1378 controls of African ancestry. None of the 22 GWAS index SNPs could be validated, challenging the direct generalizability of breast cancer risk variants identified in Caucasians or Asians to other populations. Novel breast cancer risk variants for women of African ancestry were identified in regions including 5p12 (odds ratio [OR] = 1.40, 95% confidence interval [CI] = 1.11-1.76; P = 0.004), 5q11.2 (OR = 1.22, 95% CI = 1.09-1.36; P = 0.00053) and 10p15.1 (OR = 1.22, 95% CI = 1.08-1.38; P = 0.0015). We also found positive association signals in three regions (6q25.1, 10q26.13 and 16q12.1-q12.2) previously confirmed by fine mapping in women of African ancestry. In addition, polygenic model indicated that eight best markers in this study, compared with 22 GWAS-identified SNPs, could better predict breast cancer risk in women of African ancestry (per-allele OR = 1.21, 95% CI = 1.16-1.27; P = 9.7 × 10(-16)). Our results demonstrate that fine mapping is a powerful approach to better characterize the breast cancer risk alleles in diverse populations. Future studies and new GWAS in women of African ancestry hold promise to discover additional variants for breast cancer susceptibility with clinical implications throughout the African diaspora.
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