SynthesisHuman molecular genetics2012
Identification of a novel percent mammographic density locus at 12q24.
Synthesis in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Pooled it
- A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density.Breast cancer research : BCR · 2015Pooled it
- Evaluating mammographic density polygenic risk score for contralateral breast cancer risk prediction.Scientific reports · 2026Article
- Genome-wide association study of Asian women identifies putative mammographic density-associated loci.Breast cancer research : BCR · 2025Article
- Evaluation of SNPs associated with mammographic density in European women with mammographic density in Asian women from South-East Asia.Breast cancer research and treatment · 2023Article
- Article
- Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci.Breast cancer research : BCR · 2022Article
- Heritability of mammographic breast density.Quantitative imaging in medicine and surgery · 2020Article
- Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk.Nature communications · 2020Article
- Common genetic variation and novel loci associated with volumetric mammographic density.Breast cancer research : BCR · 2018Article
- Genetic variation in sensitivity to estrogens and breast cancer risk.Mammalian genome : official journal of the International Mammalian Genome Society · 2018Review
- Article
- A comprehensive survey of genetic variation in 20,691 subjects from four large cohorts.PloS one · 2017Article
- Stromal characteristics may hold the key to mammographic density: the evidence to date.Oncotarget · 2016Review
- Raised mammographic density: causative mechanisms and biological consequences.Breast cancer research : BCR · 2016Review
- The association of copy number variation and percent mammographic density.BMC research notes · 2015Article
- Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.Nature communications · 2014Article
- Combined effects of endogenous sex hormone levels and mammographic density on postmenopausal breast cancer risk: results from the Breakthrough Generations Study.British journal of cancer · 2014Article
- Genome-wide DNA methylation profiles in progression to in situ and invasive carcinoma of the breast with impact on gene transcription and prognosis.Genome biology · 2014Article
- High mammographic density in women of Ashkenazi Jewish descent.Breast cancer research : BCR · 2013Article
Corrections and comments
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Authors and funding
54 authors.
Funding
Abstract
Percent mammographic density adjusted for age and body mass index (BMI) is one of the strongest risk factors for breast cancer and has a heritable component that remains largely unidentified. We performed a three-stage genome-wide association study (GWAS) of percent mammographic density to identify novel genetic loci associated with this trait. In stage 1, we combined three GWASs of percent density comprised of 1241 women from studies at the Mayo Clinic and identified the top 48 loci (99 single nucleotide polymorphisms). We attempted replication of these loci in 7018 women from seven additional studies (stage 2). The meta-analysis of stage 1 and 2 data identified a novel locus, rs1265507 on 12q24, associated with percent density, adjusting for age and BMI (P = 4.43 × 10(-8)). We refined the 12q24 locus with 459 additional variants (stage 3) in a combined analysis of all three stages (n = 10 377) and confirmed that rs1265507 has the strongest association in the 12q24 region (P = 1.03 × 10(-8)). Rs1265507 is located between the genes TBX5 and TBX3, which are members of the phylogenetically conserved T-box gene family and encode transcription factors involved in developmental regulation. Understanding the mechanism underlying this association will provide insight into the genetics of breast tissue composition.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.