ArticleBreast cancer research : BCR2009
Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.
Article in Breast cancer research : BCR, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 39 citations in OpenAlex.
- Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis.Scientific reports · 2024Article
- THOR is a targetable epigenetic biomarker with clinical implications in breast cancer.Clinical epigenetics · 2022Article
- Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant.NPJ breast cancer · 2022Article
- A Genotype-Phenotype Analysis of Glutathione Peroxidase 4 in Human Atrial Myocardium and Its Association with Postoperative Atrial Fibrillation.Antioxidants (Basel, Switzerland) · 2022Article
- CpG-SNP site methylation regulates allele-specific expression of MTHFD1 gene in type 2 diabetes.Laboratory investigation; a journal of technical methods and pathology · 2020Article
- Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk.NPJ genomic medicine · 2020Article
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- Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.European journal of human genetics : EJHG · 2017Article
- Allele-specific expression at the androgen receptor alpha gene in a hybrid unisexual fish, the Amazon molly (Poecilia formosa).PloS one · 2017Article
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- Occurrence of Neuroblastoma among TP53 p.R337H Carriers.PloS one · 2015Article
- TOX3 mutations in breast cancer.PloS one · 2013Article
- Sequential genetic change at the TP53 and chemokine receptor CXCR4 locus during transformation of human ovarian surface epithelium.Oncogene · 2012Article
- Selenoproteins reduce susceptibility to DMBA-induced mammary carcinogenesis.Carcinogenesis · 2012Article
- Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.Breast cancer research : BCR · 2012Article
- Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.Human molecular genetics · 2011Article
- Gene expression in response to ionizing radiation and family history of gastric cancer.Familial cancer · 2011Article
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Authors and funding
7 authors at 4 institutions in 1 country.
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Abstract
introductionNormal gene expression variation is thought to play a central role in inter-individual variation and susceptibility to disease. Regulatory polymorphisms in cis-acting elements result in the unequal expression of alleles. Differential allelic expression (DAE) in heterozygote individuals could be used to develop a new approach to discover regulatory breast cancer susceptibility loci. As access to large numbers of fresh breast tissue to perform such studies is difficult, a suitable surrogate test tissue must be identified for future studies.
methodsWe measured differential allelic expression of 12 candidate genes possibly related to breast cancer susceptibility (BRCA1, BRCA2, C1qA, CCND3, EMSY, GPX1, GPX4, MLH3, MTHFR, NBS1, TP53 and TRXR2) in breast tissue (n = 40) and fresh blood (n = 170) of healthy individuals and EBV-transformed lymphoblastoid cells (n = 19). Differential allelic expression ratios were determined by Taqman assay. Ratio distributions were compared using t-test and Wilcoxon rank sum test, for mean ratios and variances respectively.
resultsWe show that differential allelic expression is common among these 12 candidate genes and is comparable between breast and blood (fresh and transformed lymphoblasts) in a significant proportion of them. We found that eight out of nine genes with DAE in breast and fresh blood were comparable, as were 10 out of 11 genes between breast and transformed lymphoblasts.
conclusionsOur findings support the use of differential allelic expression in blood as a surrogate for breast tissue in future studies on predisposition to breast cancer.
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