ArticleHuman molecular genetics2011
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 10 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 10 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- Association between CASC16 rs4784227 polymorphism and breast cancer susceptibility: A meta-analysis.Medicine · 2021Pooled it
- The 6q25.1 rs2046210 polymorphism is associated with an elevated susceptibility to breast cancer: A meta-analysis of 261,703 subjects.Molecular genetics & genomic medicine · 2019Pooled it
- Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.Nature genetics · 2016Pooled it
- Post-GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79,000 women.Human molecular genetics · 2014Pooled it
- Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis.Journal of the National Cancer Institute · 2014Pooled it
- Single nucleotide polymorphism 6q25.1 rs2046210 and increased risk of breast cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2013Pooled it
- Association between 1p11-rs11249433 polymorphism and breast cancer susceptibility: evidence from 15 case-control studies.PloS one · 2013Pooled it
- Pooled it
- Quantitative assessment of the association between rs2046210 at 6q25.1 and breast cancer risk.PloS one · 2013Pooled it
- Pooled it
- Review
- Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.Hereditary cancer in clinical practice · 2025Review
- No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives inGenes · 2021Article
- A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.Scientific reports · 2021Article
- A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.Nature communications · 2021Article
- NOTCH Single Nucleotide Polymorphisms in the Predisposition of Breast and Colorectal Cancers in Saudi Patients.Pathology oncology research : POR · 2021Article
- BRCA1-associated R-loop affects transcription and differentiation in breast luminal epithelial cells.Nucleic acids research · 2019Article
- Identification of novel common breast cancer risk variants at the 6q25 locus among Latinas.Breast cancer research : BCR · 2019Article
- Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018Review
- Polymorphisms of long non-coding RNA HOTAIR with breast cancer susceptibility and clinical outcomes for a southeast Chinese Han population.Oncotarget · 2018Article
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Authors and funding
186 authors at 20 institutions in 25 countries.
Funding
Abstract
Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 × 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
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