SynthesisPLoS genetics2017
Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk.
Synthesis in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 76 citations in OpenAlex.
- Expression- and splicing-based multi-tissue transcriptome-wide association studies identified multiple genes for breast cancer by estrogen-receptor status.Breast cancer research : BCR · 2024Pooled it
- A joint transcriptome-wide association study across multiple tissues identifies candidate breast cancer susceptibility genes.American journal of human genetics · 2023Pooled it
- The Paul Fearn Award for Excellence in Data Sharing in Cancer Control and Population Sciences.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Identification of breast cancer susceptibility genes via trans-ethnic Mendelian randomization and colocalization analyses.Medicine · 2025Article
- Identification and Validation of RPL7 and RCCD1 as Potential Biomarkers Associated with Immune Infiltration in Patients with Thin Endometrium.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- LRRC25 Is a Potential Biomarker for Predicting Immunotherapy Response in Patients with Gastric Cancer.Digestive diseases and sciences · 2025Article
- A proteome-wide association study identifies putative causal proteins for breast cancer risk.British journal of cancer · 2024Article
- Powerful mapping ofmedRxiv : the preprint server for health sciences · 2024Article
- Multi-tissue transcriptome-wide association studies identified 235 genes for intrinsic subtypes of breast cancer.Journal of the National Cancer Institute · 2024Article
- A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer.American journal of human genetics · 2024Article
- Cis- and trans-eQTL TWASs of breast and ovarian cancer identify more than 100 susceptibility genes in the BCAC and OCAC consortia.American journal of human genetics · 2024Article
- Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes.Nature communications · 2024Article
- Transcriptome-Wide Association Studies (TWAS): Methodologies, Applications, and Challenges.Current protocols · 2024Article
- LRRC25 expression during physiological aging and in mouse models of Alzheimer's disease and iPSC-derived neurons.Frontiers in molecular neuroscience · 2024Article
- Multi-omics Mendelian randomization integrating GWAS, eQTL, and mQTL data identified genes associated with breast cancer.American journal of cancer research · 2024Article
- Article
- Clinical and genomic features of non-small cell lung cancer occurring in families.Thoracic cancer · 2023Article
- OTTERS: a powerful TWAS framework leveraging summary-level reference data.Nature communications · 2023Article
- ANKLE1 cleaves mitochondrial DNA and contributes to cancer risk by promoting apoptosis resistance and metabolic dysregulation.Communications biology · 2023Article
- MiXcan: a framework for cell-type-aware transcriptome-wide association studies with an application to breast cancer.Nature communications · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Breast cancer is the most common solid organ malignancy and the most frequent cause of cancer death among women worldwide. Previous research has yielded insights into its genetic etiology, but there remains a gap in the understanding of genetic factors that contribute to risk, and particularly in the biological mechanisms by which genetic variation modulates risk. The National Cancer Institute's "Up for a Challenge" (U4C) competition provided an opportunity to further elucidate the genetic basis of the disease. Our group leveraged the seven datasets made available by the U4C organizers and data from the publicly available UK Biobank cohort to examine associations between imputed gene expression and breast cancer risk. In particular, we used reference datasets describing the breast tissue and whole blood transcriptomes to impute expression levels in breast cancer cases and controls. In trans-ethnic meta-analyses of U4C and UK Biobank data, we found significant associations between breast cancer risk and the expression of RCCD1 (joint p-value: 3.6x10-06) and DHODH (p-value: 7.1x10-06) in breast tissue, as well as a suggestive association for ANKLE1 (p-value: 9.3x10-05). Expression of RCCD1 in whole blood was also suggestively associated with disease risk (p-value: 1.2x10-05), as were expression of ACAP1 (p-value: 1.9x10-05) and LRRC25 (p-value: 5.2x10-05). While genome-wide association studies (GWAS) have implicated RCCD1 and ANKLE1 in breast cancer risk, they have not identified the remaining three genes. Among the genetic variants that contributed to the predicted expression of the five genes, we found 23 nominally (p-value < 0.05) associated with breast cancer risk, among which 15 are not in high linkage disequilibrium with risk variants previously identified by GWAS. In summary, we used a transcriptome-based approach to investigate the genetic underpinnings of breast carcinogenesis. This approach provided an avenue for deciphering the functional relevance of genes and genetic variants involved in breast cancer.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.