ArticleBreast cancer research : BCR2011
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Article in Breast cancer research : BCR, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 5 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 5 syntheses or guidelines pooled it, 118 citations in OpenAlex.
- 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
- Association of three SNPs in TOX3 and breast cancer risk: Evidence from 97275 cases and 128686 controls.Scientific reports · 2015Pooled 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
- Quantitative assessment of the association between rs2046210 at 6q25.1 and breast cancer risk.PloS one · 2013Pooled it
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- Fibroblast growth factor receptor signalling dysregulation and targeting in breast cancer.Open biology · 2022Review
- CXCR4 Knockdown Via CRISPR/CAS9 in a Tumor-Associated Macrophage Model Decreases Human Breast Cancer Cell Migration.Cureus · 2021Article
- Potential Prognostic Biomarkers of NIMA (Never in Mitosis, Gene A)-Related Kinase (NEK) Family Members in Breast Cancer.Journal of personalized medicine · 2021Article
- No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives inGenes · 2021Article
- Boosting GWAS using biological networks: A study on susceptibility to familial breast cancer.PLoS computational biology · 2021Article
- Article
- Expression of the NEK family in normal and cancer tissue: an immunohistochemical study.BMC cancer · 2020Article
- Relationships between SNPs and prognosis of breast cancer and pathogenic mechanism.Molecular genetics & genomic medicine · 2019Article
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190 authors at 20 institutions in 17 countries.
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Abstract
introductionPrevious studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour.
methodsWe used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach.
resultsThe results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status.
conclusionsThe associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
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