ArticleBreast cancer research : BCR2012
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
Article in Breast cancer research : BCR, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 4 of them syntheses that pooled it.
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Who cites it
49 citing papers in PubMed, 4 syntheses or guidelines pooled it, 96 citations in OpenAlex.
- Clinical and prognostic significance of parathyroid hormone-related protein in breast cancer: a systematic review and meta-analyses of observational studies in women.Endocrine-related cancer · 2026Pooled it
- Association of breast cancer risk loci with breast cancer survival.International journal of cancer · 2015Pooled 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
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- Niraparib Plus Aromatase Inhibitors for Hormone Receptor-Positive/HER2-Negative Advanced Breast Cancer with a GermlineCancers · 2025Article
- Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.Hereditary cancer in clinical practice · 2025Review
- Identification of key genes participating in copper-diethyldithiocarbamate-related cell death process and predicting the development of prostate cancer.Discover oncology · 2024Article
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- Potential Role of Zinc Finger 365Iranian journal of medical sciences · 2023Article
- The Long Non-Coding RNA ANRIL in Cancers.Cancers · 2023Review
- Precursor fractions of neurotensin and enkephalin might point to molecular mechanisms of cancer risk modulation during a lifestyle-intervention in germline BRCA1/2 gene mutation carriers.Breast cancer research and treatment · 2021Article
- A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.Nature communications · 2021Article
- Cytogenomic characteristics of murine breast cancer cell line JC.Molecular cytogenetics · 2021Article
- Breast Cancer-Related Low Penetrance Genes.Advances in experimental medicine and biology · 2021Article
- Molecular Cytogenomic Characterization of the Murine Breast Cancer Cell Lines C-127I, EMT6/P and TA3 Hauschka.International journal of molecular sciences · 2020Article
- Exploring genetic counselors' perceptions of usefulness and intentions to use refined risk models in clinical care based on the Technology Acceptance Model (TAM).Journal of genetic counseling · 2019Article
Corrections and comments
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Authors and funding
186 authors at 20 institutions in 21 countries.
Funding
Abstract
introductionSeveral common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2).
methodsTo evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework.
resultsOnly SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 × 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 × 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049).
conclusionsThe present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.
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