ArticleHuman genetics2011
Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
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- Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.American journal of human genetics · 2020Article
- Fine-mapping of a novel premenopausal breast cancer susceptibility locus at Chr4q31.22 in Caucasian women and validation in African and Chinese women.International journal of cancer · 2020Observational
- The association of CASC16 variants with breast Cancer risk in a northwest Chinese female population.Molecular medicine (Cambridge, Mass.) · 2020Article
- Genome-wide analysis reveals the association between alternative splicing and DNA methylation across human solid tumors.BMC medical genomics · 2020Article
- Evaluation of significant genome-wide association studies risk - SNPs in young breast cancer patients.PloS one · 2019Article
- Identification of Key Genes and Pathways Associated with RUNX1 Mutations in Acute Myeloid Leukemia Using Bioinformatics Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
- Making Sense of SNPs: Women's Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks.Journal of genetic counseling · 2018Article
- Breast cancer associated germline structural variants harboring small noncoding RNAs impact post-transcriptional gene regulation.Scientific reports · 2018Article
- Germline copy number variations are associated with breast cancer risk and prognosis.Scientific reports · 2017Article
- Previous GWAS hits in relation to young-onset breast cancer.Breast cancer research and treatment · 2017Article
- Weighted gene co-expression network analysis in identification of metastasis-related genes of lung squamous cell carcinoma based on the Cancer Genome Atlas database.Journal of thoracic disease · 2017Article
- Identification of novel susceptibility markers for the risk of overall breast cancer as well as subtypes defined by hormone receptor status in the Chinese population.Journal of human genetics · 2016Article
- Association of five single nucleotide polymorphisms at 6q25.1 with breast cancer risk in northwestern China.American journal of cancer research · 2015Article
- Polymorphisms in ESR1 and FLJ43663 are associated with breast cancer risk in the Han population.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- Significant overlap between human genome-wide association-study nominated breast cancer risk alleles and rat mammary cancer susceptibility loci.Breast cancer research : BCR · 2014Article
- Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility.PloS one · 2014Article
- Hereditary breast cancer: ever more pieces to the polygenic puzzle.Hereditary cancer in clinical practice · 2013Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Previous genome-wide association studies (GWAS) have shown several risk alleles to be associated with breast cancer. However, the variants identified so far contribute to only a small proportion of disease risk. The objective of our GWAS was to identify additional novel breast cancer susceptibility variants and to replicate these findings in an independent cohort. We performed a two-stage association study in a cohort of 3,064 women from Alberta, Canada. In Stage I, we interrogated 906,600 single nucleotide polymorphisms (SNPs) on Affymetrix SNP 6.0 arrays using 348 breast cancer cases and 348 controls. We used single-locus association tests to determine statistical significance for the observed differences in allele frequencies between cases and controls. In Stage II, we attempted to replicate 35 significant markers identified in Stage I in an independent study of 1,153 cases and 1,215 controls. Genotyping of Stage II samples was done using Sequenom Mass-ARRAY iPlex platform. Six loci from four different gene regions (chromosomes 4, 5, 16 and 19) showed statistically significant differences between cases and controls in both Stage I and Stage II testing, and also in joint analysis. The identified variants were from EDNRA, ROPN1L, C16orf61 and ZNF577 gene regions. The presented joint analyses from the two-stage study design were not significant after genome-wide correction. The SNPs identified in this study may serve as potential candidate loci for breast cancer risk in a further replication study in Stage III from Alberta population or independent validation in Caucasian cohorts elsewhere.
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