• Hereditary breast cancers linked to germ-line mutations of BRCA1 and BRCA2 genes almost invariably show allelic imbalance (Al) at the respective loci. (lu.se)
  • Combined allelic loss of both BRCA1 and BRCA2 gene was seen in 12 of the 17 (71%) informative hereditary tumours, whereas copy number losses of both BRCA genes was seen in only 4/14 (29%) sporadic control tumours studied by FISH. (lu.se)
  • We 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. (springer.com)
  • Using a model that characterizes patterns in allele expression from bulk RNA sequencing data, the researchers found that both alleles of some genes were equally active throughout tissues-but for almost 3,000 genes, cells favored one allele or the other, exhibiting what the authors call random allelic expression (RAE). (the-scientist.com)
  • The researchers also found that biallelic genes tend to be located near the centromere, indicating that they're less likely to undergo recombination, while random allelic genes are more likely to be clustered near the telomere's tips. (the-scientist.com)
  • Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. (snpedia.com)
  • In oral SCC, modern DNA technology, especially allelic imbalance (loss of heterozygosity) studies, have identified chromosomal changes suggestive of the involvement of tumor suppressor genes (TSGs), particularly in chromosomes 3, 9, 11, and 17. (medscape.com)
  • Previous studies have implicated allelic loss at chromosome 17q in the development of non-small cell lung carcinoma (NSCLC), and a number of known and putative tumour-suppressor genes reside within this region. (edgehill.ac.uk)
  • Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy. (crossref.org)
  • A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
  • Differential allelic expression (DAE) in heterozygote individuals could be used to develop a new approach to discover regulatory breast cancer susceptibility loci. (springer.com)
  • Differential allelic expression ratios were determined by Taqman assay. (springer.com)
  • Our findings support the use of differential allelic expression in blood as a surrogate for breast tissue in future studies on predisposition to breast cancer. (springer.com)
  • Polymorphic variants at regulatory elements can cause differential allelic expression (DAE), thus using DAE as a quantitative trait could help identify such variation. (springer.com)
  • We aimed to perform a more extensive evaluation of differential allelic expression between blood and breast in order to assess the potential usefulness of LCL and fresh blood in association studies, to identify regulatory polymorphisms related to susceptibility to breast cancer. (springer.com)
  • We compared the distribution of allelic ratios of gene expression in fresh blood (B cells and total mononuclear cells), transformed lymphoblasts, and breast tissue from unmatched healthy individuals. (springer.com)
  • The researchers then compared the relative gene expression levels of each allele across different tissues within each individual, theorizing that if two alleles are expressed in a biallelic fashion, the overall allelic expression ratio should fit a binomial distribution, whereas randomly expressed alleles wouldn't. (the-scientist.com)
  • Expression allelic imbalance is characterized by a deviation from the Mendelian expected 1:1 expression ratio and is an important source of allele-specific heterogeneity. (researchgate.net)
  • In this study, we investigated the expression, promoter methylation and allelic imbalance status of this gene in 52 paired (normal/tumour) surgically excised lung tissue samples from patients with NSCLC. (edgehill.ac.uk)
  • Allelic Expression Imbalance Analysis Identified YAP1 Amplification in p53- Dependent Osteosarcoma. (cdc.gov)
  • In addition, we show that AD variants exhibit allelic imbalance on target gene expression. (bvsalud.org)
  • Androgenetic-biparental mosaicism was diagnosed in one patient based on global allelic imbalances at all informative loci. (elsevierpure.com)
  • The Mcs7 quantitative trait locus is associated with an increased susceptibility to mammary cancer in congenic rats and an allele-specific imbalance. (mcw.edu)
  • Displays the allelic imbalance of the heterozygous SNP markers in a tumor genome as compared to this patient's germline genome, as a way of indicating loss-of-heterozygosity. (stjude.cloud)
  • To compare our data to previous reports, we determined the band-specific frequency of chromosomal imbalances in breast cancer karyotypes reported in the Mitelman database, and from the CGH results of cases accessible through the Progenetix website. (uzh.ch)
  • Furthermore, published LOH analyses of breast cancer cases were compared to our own LOH results, demonstrating the most common chromosomal regions affected by allelic losses. (uzh.ch)
  • Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
  • The pattern of AI in carcinomas from both F1 and Mcs7 congenic rats was similar, suggesting a WF allelic loss. (mcw.edu)
  • Finally, direct measurement of mutant versus wildtype KRAS protein abundance revealed a frequent imbalance that may suggest additional non-gene duplication mechanisms for optimizing oncogenic Ras dosage. (nature.com)
  • These findings demonstrate a high frequency of LOH or allelic imbalance at the centromeric region of 11p, which contains the KAI1 gene in advanced prostate cancer. (johnshopkins.edu)
  • Nye data tyder på at lungekreft som oppstår hos aldri-røykere bør ses på som en egen entitet, og dette vil kunne ha behandlingsmessige implikasjoner. (tidsskriftet.no)
  • Data sharing of the allelic imbalance dataset generated from the Allelic Epigenome Project. (genboree.org)
  • Furthermore, very few polymorphisms were identified among the resistant individuals suggesting allelic imbalance. (usda.gov)
  • His lab previously found widespread evidence of allelic imbalances in the brains of mice and in cultured cells. (the-scientist.com)
  • In that patient, the greatest imbalances were observed in stroma-rich portions of the hamartoma, with no significant imbalance in histologically normal liver or epithelium-rich portions of the hamartoma. (elsevierpure.com)
  • Loss of heterozygosity analysis used fluorescent capillary electrophoresis for quantitative determination of allelic imbalance. (medscape.com)
  • The companion diagnostic, which is called myChoice CDx, determines HRD status by testing for the presence of cancer-associated BRCA1/2 mutations and three other markers of genomic instability: loss of heterozygosity, telomeric allelic imbalance, and large-scale state transitions. (aacr.org)
  • Homologous recombination deficiency which is currently measured by the homologous recombination deficiency (HRD) score including score of telomeric allelic imbalance (TAI), large-scale transition (LST), and loss of heterozygosity (LOH) is highly related with sensitivity to platinum-containing drug and PARP inhibitors. (hindawi.com)
  • In breast cancer, the deficiency in homologous recombination repair pathway is called "BRCAness phenotype" and can be measured by the presence of genomic scar including telomeric allelic imbalance (TAI), large-scale transition (LST), and loss of heterozygosity (LOH) via single nucleotide polymorphism (SNP) profile. (hindawi.com)
  • In oral SCC, modern DNA technology, especially allelic imbalance (loss of heterozygosity) studies, have identified chromosomal changes suggestive of the involvement of tumor suppressor genes (TSGs), particularly in chromosomes 3, 9, 11, and 17. (medscape.com)
  • However, this may inadvertently remove important genes that have truly large allelic imbalances. (nih.gov)
  • A significant allelic expression imbalance (AEI) was identified for 7/14 (50%) genes tested ( ANPEP , CAMK2B , HMG20A , KCNJ11 , NOTCH2 , SLC30A8 , and WFS1 ), with significant AEI confirmed for five of these genes using other linked exonic SNPs. (diabetesjournals.org)
  • Some genes, however, show a much more complete form of allelic imbalance, resulting in monoallelic gene expression (see Fig. 3-11 ). (basicmedicalkey.com)
  • Several different mechanisms have been shown to account for allelic imbalance of this type for particular subsets of genes in the genome: DNA rearrangement, random monoallelic expression, parent-of-origin imprinting, and, for genes on the X chromosome in females, X chromosome inactivation. (basicmedicalkey.com)
  • Allelic imbalance occurs when the two alleles of a gene are differentially expressed within a diploid organism and can indicate important differences in cis-regulation and epigenetic state across the two chromosomes. (nih.gov)
  • Figure 3-11 Allelic expression patterns for a gene sequence with a transcribed DNA variant (here, a C or a T) to distinguish the alleles. (basicmedicalkey.com)
  • As described in the text, the relative abundance of RNA transcripts from the two alleles (here, carrying a G or an A) demonstrates whether the gene shows balanced expression (top), allelic imbalance (center), or exclusively monoallelic expression (bottom). (basicmedicalkey.com)
  • Allelic imbalance occurs when one copy of a gene is expressed at a higher level than the other. (nih.gov)
  • Using samples heterozygous for transcribed single nucleotide polymorphisms (SNPs), allelic expression profiling is a powerful technique for identifying cis -regulatory variants controlling gene expression. (diabetesjournals.org)
  • Different underlying mechanisms for allelic imbalance are compared in Table 3-2 . (basicmedicalkey.com)
  • Next, we address the underlying mechanisms of allelic imbalance (Aim 2). (heart-institute.nl)
  • Fast effect size shrinkage software for beta-binomial models of allelic imbalance. (nih.gov)