Genomic instability. Medical search. Frequent questions

Three areas are the focus of study: homologous recombination deficiency, chromosomal instability, and APOBEC mutagenesis. (mskcc.org)
This study aims at correlating RKIP expression with chromosomal instability in colorectal cancer samples and identifies possible mechanisms of RKIP loss. (bmj.com)
Chromosomal instability was assessed using metaphase-based comparative genomic hybridisation (CGH) and loss of heterozygosity (LOH) in 65 cases with microsatellite stable CRC and correlated with RKIP expression. (bmj.com)
FOXM1-induced genomic instability was significantly enhanced and accumulated with increasing cell passage and this instability was increased even further upon exposure to UVB resulting in whole chromosomal gain (7p21.3-7q36.3) and segmental LOH (6q25.1-6q25.3). (qmul.ac.uk)
Chromosomal instability is a manifest of genome instability with complexities that require careful attention to individual gene control features specific to the cancer cell mutation, tumor microenvironment and surrounding moiety. (medium.com)
Purpose: Although many articles have been published regarding chromosomal instability (CI) and microsatellite instability (MI) in endometrial adenocarcinoma, the relationship between prognostic factors and the biological mechanisms accounting for genetic instability in these tumors has not yet been precisely defined. (elsevierpure.com)
Global genomic hypomethylation has been linked to the induction of chromosomal instability. (nih.gov)

Several forms of genomic instability are common in colon cancer: microsatellite instability (MSI), chromosome instability (CIN), and chromosome translocations. (nih.gov)
Among them, there were 19 cases of colorectal carcinomas for KRAS testing, 23 cases of lung adenocarcinomas for EGFR exons 18-21 mutational analysis, 9 cases for BRAF V600E testing (5 melanomas, 2 colon carcinomas, 1 papillary thyroid carcinoma and 1 Langerhans histiocytosis), and 1 case of colorectal carcinoma with matched normal tissue for microsatellite instability analysis. (medscape.com)
The Oncomine Comprehensive Assay Plus is a research use only (RUO) assay that detects DNA- and RNA-based pan-cancer biomarkers from over 500 genes, and complex biomarkers including tumor mutational burden (TMB), microsatellite instability (MSI), and HRD. (oncomine.com)

The term "genomic instability" is taken broadly to mean a significant difference, presumably a decrease from an established normal base line, in any of various parameters expected to decrease the integrity of the cellular genome or its expression. (nih.gov)
Generally, problems with DNA replication or repair during periods of rapid cell division can cause instability in the genome, which results in cellular stress and inflammation. (nih.gov)
Given the fact that centrin localizes to centrioles, which are potentially involved in genome maintenance, together with the fact that centrin is functionally involved in centriole duplication and segregation, an obvious question is whether centrin plays a role in genomic stability. (biomedcentral.com)
The regionally separated driver mutations, coupled with the relentless and heterogeneous nature of the genome instability processes, are likely to confound treatment success in NSCLC. (cam.ac.uk)
Using a high-resolution Affymetrix genome-wide single nucleotide polymorphism (SNP) mapping technique, we provided the evidence that FOXM1 upregulation in epidermal keratinocytes is sufficient to induce genomic instability, in the form of loss of heterozygosity (LOH) and copy number variations (CNV). (qmul.ac.uk)
However, the molecular mechanisms underlying telomere attrition-induced genome instability remain to be understood. (nature.com)
It has long been recognized that telomere dysfunction and rearrangement in subtelomeric and telomeric regions can lead to genome instability and eventually cause cancer and other diseases in human 2 , 3 . (nature.com)
Members of the Mechanisms of Genome Dynamics Group are interested in identifying the mechanisms, genetic defects, and environmental factors that lead to the extreme risks of genome instability. (nih.gov)
Methodology includes the state of the art yeast experimental models, as well as sequencing and bioinformatics analysis of yeast and human genomes, turning them into reporters of genome instability. (nih.gov)

Mice with mutations in genes that regulate an important DNA replication complex, called the minichromosome maintenance complex or MCM, are susceptible to genomic instability and cancer. (nih.gov)
Genomic instability creates a permissive state in which a potential cancer cell is allowed to acquire enough mutations to become a cancer cell. (nih.gov)
If centrioles play a role in chromosome segregation, then mutations in genes encoding centriolar proteins would be expected to result in genomic instability. (biomedcentral.com)
However, the relationships and mechanisms underlying short or dysfunctional telomere-induced mutations and genomic instability remain elusive. (nature.com)
Cell size and cell death affect the number of genomic instability mutations that are expected in a tumor. (psu.edu)
The impact of individual genomic instability mutations on tumor progression is dependent upon active cell division. (psu.edu)
Various factors that can affect the frequency of genomic instability mutations are also considered in the chapter. (psu.edu)
Genomic instability in TKI-sensitive LPCs has the potential to upgrade their status to TKI-refractory/resistant LSCs and to prevent mutations from disappearing during proliferation Thiolutin maturation and/or TKI treatment. (bioerc-iend.org)
The study set out to determine (a) whether DNA damage is elevated in mice that carry mutations in the amyloid precursor protein (APP695swe) and presenilin 1 (PSEN1-dE9) that predispose to Alzheimer's disease (AD) relative to non-transgenic control mice, and (b) whether increasing the intake of dietary polyphenols from curcumin or grape seed extract could reduce genomic instability events in a transgenic mouse model for AD. (nih.gov)
Thus, somatic mutations, and the consequent genomic instability may be an important driving force for the development of chemoresistance in malignant tumors. (biomedcentral.com)

Using a genetic assay for loss of heterozygosity, we found that this centrin mutant showed increased genomic instability compared to wild-type cells, and we determined that the increase in genomic instability was due to a 100-fold increase in chromosome loss rates compared to wild type. (biomedcentral.com)

Defects in the ability of cells to properly respond to and repair DNA damage result in genomic instability and underlie many forms of cancer. (mdanderson.org)

The clinical significance of genomic instability is now under investigation, and it is hoped that this research will soon yield results that have an immediate effect on the treatment of colon cancer. (nih.gov)

Such a mutation rate increase could result from a mutation in any of the multiple genes that affect genomic stability. (nih.gov)
One approach to investigate mitotic centriole function is to ask whether mutation of centriole-associated proteins can cause genomic instability. (biomedcentral.com)
Cancer is a multi-factorial process, however, cancer cell mutation load, tumor initiation and progression through genomic instability has obvious relation to loss of gene function as seen in mutator phenotypes and relation to oncogene initiation and induced DNA replication stress. (medium.com)
The large number of genomic instability genes suggests that the probability of some people in the human population carrying a recessive mutation in a genomic instability gene is high. (psu.edu)
Together, our data uncover a role for H3.3 in DNA replication under stress conditions that is altered by the K27M mutation, promoting genomic instability and potentially glioma development. (mdrresearch.nl)
Genomic instability caused by mutation of the checkpoint molecule TP53 may endow cancer cells with the ability to undergo genomic evolution to survive stress and treatment. (biomedcentral.com)
We attempted to gain insight into the potential contribution of ovarian cancer genomic instability resulted from TP53 mutation to the aberrant expression of multidrug resistance gene MDR1 . (biomedcentral.com)
TP53 mutation-associated genomic instability may promote chromosome 7 accumulation and MDR1 amplification during ovarian cancer chemoresistance and recurrence. (biomedcentral.com)

Based on the circumstantial evidence that tumor cells which display genomic instability also frequently show aberrations in centriole structure or copy number [ 1 , 2 ], it has been proposed that centrioles may participate in the maintenance of genomic stability. (biomedcentral.com)
The genomic alterations identified in human cancers can be viewed by cellular pathways dedicated to the maintenance of genomic stability. (psu.edu)

Toward this goal we correlated genomic alterations in tumor-samples from 37 postmenopausal patients (more than 20 years of follow up) with disease free survival times. (nih.gov)
Our comparative genomic hybridization results demonstrated that the number of chromosomes involved in genomic alterations in EACs was distinctively fewer than those in other types of tumor. (elsevierpure.com)
Genomic instability is defined as an increased rate of DNA alterations [ 8 ]. (biomedcentral.com)

We addressed the role of the centriole-associated EF-hand protein centrin in genomic stability using a Chlamydomonas reinhardtii centrin mutant that forms acentriolar bipolar spindles and lacks the centrin-based rhizoplast structures that join centrioles to the nucleus. (biomedcentral.com)
Telomeres, at the ends of chromosomes, protect chromosomes from fusion and preserve genomic stability. (nature.com)
Together, our findings suggest a potential mechanism by which telomeres maintain genomic stability by suppressing chromatin accessibility and retrotransposon activity. (nature.com)
Genomic stability is essential in cell maintenance and integrity. (medium.com)
Some examples of disruption of these pathways leading to genomic instability are also considered in the chapter by a selective survey of cellular mechanisms involved in maintaining genomic stability. (psu.edu)
The large number of components involved in those mechanisms may increase the likelihood that disruption of normal genomic stability mechanisms will occur during a normal lifespan and during the growth of benign neoplasms. (psu.edu)
TP53 is a checkpoint molecule that maintains genomic stability, prevents cell mitosis and induces apoptosis following abnormal chromosome segregation or chemical damage to DNA sequences [ 9 , 10 ]. (biomedcentral.com)
Her laboratory takes multidisciplinary approach to identify important players in the DNA damage response and define the roles of these genes in maintaining genomic stability and tumor suppression. (mdanderson.org)

They found that obesity, oxidative DNA damage and vitamin D deficiency are significant predictors of genomic instability. (bariatricnews.net)
The study, 'Obesity, oxidative DNA damage and vitamin D as predictors of genomic instability in children and adolescents, published in the International Journal of Obesity, is the first of its kind to make a combined, non-invasive assessment of genomic instability, vitamin D deficiency and inflammation in relation to multiple indicators of body fat in children and adolescents. (bariatricnews.net)

BRCA1 and BRCA2 are enabled for SNV/indel calling as well as CNV, gene LOH and large genomic rearrangements such as exon-level deletions and duplications. (oncomine.com)
Gene amplification was investigated in K-ras, c-myc, c-fos, c-jun, c-sis, erb-B2 and p53 using differential PCR while random amplified polymorphic DNA fingerprinting was employed to detect genomic instability. (cdc.gov)
Also, cell transformation induced by BeSO4 may be attributed, in part, to the gene amplification of K-ras and c-jun and some BeSO4-induced transformed cells possess neoplastic potential resulting from genomic instability. (cdc.gov)

Conduct multidisciplinary epidemiologic studies aimed at explaining the biological mechanisms by which exposures influence cardiopulmonary disease risk and progression in humans, with focus on genomic instability. (nih.gov)
I will be elaborating on the stages of DNA surveillance and repair and demonstrate how defects in the regulation of any of these mechanisms often results in genomic instability, which predisposes the cell to malignant transformation. (medium.com)
Mechanisms of genomic instability. (manchester.ac.uk)

Telomeres protect chromosome ends to prevent chromosome fusion and instability 1 . (nature.com)

The possibility that genomic instability, originating from the germline and/or somatically acquired, is a significant element in the initiation or progression of a cell to cancer is important to establish. (nih.gov)
These profiles of genomic instability have offered novel insights about the drivers of breast cancer development and progression. (mskcc.org)
This chapter discusses the mechanics of genomic instability and the way the phenotype of genomic instability predisposes to cancer and accelerates tumor progression. (psu.edu)
Cheng, KC & Loeb, LA 1993, ' Genomic instability and tumor progression: Mechanistic considerations ', Advances in Cancer Research , vol. 60, pp. 121-156. (psu.edu)

Genomic instability and colorectal cancer. (nih.gov)

We tested whether centrin plays a role in genomic instability using a genetic assay for loss of heterozygosity in Chlamydomonas reinhardtii . (biomedcentral.com)

It is conservatively estimated that one hundred genes are involved in maintaining genomic fidelity. (nih.gov)
Oncomine Comprehensive Assay Plus covers causes and consequences for HRD by interrogating 46 homologous recombination repair (HRR) pathway genes and estimating genomic instability through GIM. (oncomine.com)

Female-biased embryonic death from inflammation induced by genomic instability. (nih.gov)
We found that critically short telomeres altered retrotransposon activity to promote genomic instability in mouse embryonic stem cells, as evidenced by elevated numbers of single nucleotide variants, indels and copy number variations (CNVs). (nature.com)

These results suggest potential protective effects of polyphenols against genomic instability events in different somatic tissues of a transgenic mouse model for AD. (nih.gov)

In addition, they identified that high levels of body fat markers were associated with high levels of inflammation and DNA damage, and with low levels of Vitamin D. Their findings substantiate claims that childhood obesity is associated with genomic instability and presents causative implications for increased risk of cancer in adulthood. (bariatricnews.net)
Inflammation and vitamin D levels in saliva and DNA damage through urine and cheek swab samples were also assessed to score for genomic instability. (bariatricnews.net)
About 25% of patients with rheumatoid arthritis have atlantoaxial instability, which is thought to be due to chronic inflammation. (medscape.com)

Genomic Instability Is an Early Event in Aluminium-Induced Tumorigenesis. (ox.ac.uk)
Genomic instability is generally considered as a hallmark of tumorigenesis and a prerequisite condition for malignant transformation. (ox.ac.uk)
Instead, this caspase activity leads to DNA damage that, in turn, promotes genomic instability , cellular transformation, and tumorigenesis . (bvsalud.org)

Five of the 10 transformed cell lines showed genetic instability using different random primers. (cdc.gov)

For instance, accumulation of DNA damage and genomic instability are well recognized enablers of cancer. (bariatricnews.net)

The association of karyotypic abnormalities with cancer cells and with normal cells from individuals with various syndromes predisposing to cancer suggests that karyotypic instability as a phenotype can be transmitted through the germline and underlies a substantial fraction of the changes required for cancer expression. (nih.gov)

Synthesis of daughter strands starts at discrete sites, termed replication origins, and proceeds in a bidirectional manner until all genomic DNA is replicated. (wikipedia.org)
Further functional analyses revealed increased genomic instability upon replication stress, as represented by mitotic bulky and ultrafine DNA bridges. (mdrresearch.nl)

This PA, DNA Damage, Genomic Instability and Breast Cancer, is related to the priority area of cancer. (nih.gov)
By utilising a non-invasive approach to sample collection and through statistical modelling, the researchers have found that levels of genomic instability can be predicted by combining BMI status, vitamin D levels in saliva and measurements of DNA damage in urine. (bariatricnews.net)
The aberrant upregulation of FOXM1 serves as a 'first hit' where cells acquire genomic instability which in turn predisposes cells to a 'second hit' whereby DNA-damage checkpoint response (eg. (qmul.ac.uk)
DNA damage, or genomic instability, can result from many factors, such as sun damage to the skin. (dior.science)
Genomic damage can result from many external and internal factors, such as UV, oxidative stress, and incomplete cell division. (dior.science)
Protecting DNA from genomic damage could, therefore, help to reduce this detrimental aging process. (dior.science)
Limited mitochondrial permeabilization causes DNA damage and genomic instability in the absence of cell death. (bvsalud.org)

Prior to joining ECHB, Dr. Wong was a research fellow at the Division of Cancer Epidemiology and Genetics, National Cancer Institute, where he investigated the influence of occupational/environmental exposure to air pollutants on various biomarkers of genomic instability, with a focus on telomere length, as well as identifying risk factors for lung cancer among special populations (e.g., unique or high-exposure, minority, or geographic location). (nih.gov)

AKS a frequent AIDS tumor is associated with HHV8, but is controversial whether clonal with recurrent genomic changes or mostly reactive proliferation. (biomedcentral.com)

The Oncomine Comprehensive Assay Plus is a targeted, next-generation sequencing assay that provides comprehensive genomic profiling for FFPE tissues from solid tumors, including small and degraded samples. (oncomine.com)

Genomic instability is a hallmark of cancer cells primarily effecting cell division. (medium.com)
A hallmark of cancer is genomic instability. (mdanderson.org)

Objectives The goal of this PA is to encourage research on human breast cancer using molecular, biochemical and cytogenetic techniques to determine whether or not a genomic instability in non-tumorigenic cells is associated with familial breast cancer family members both with and without cancer. (nih.gov)
The research projects proposed in this SPORE address genomic instability in breast cancer. (mskcc.org)
Extensive studies of genomic R-loops have shown them to play both positive roles in regulation of transcription and harmful roles leading to DNA breakage, mutagenesis and cancer. (nih.gov)
Spatial and temporal diversity in genomic instability processes defines lung cancer evolution. (cam.ac.uk)
Spatial and temporal dissection of the genomic changes occurring during the evolution of human non-small cell lung cancer (NSCLC) may help elucidate the basis for its dismal prognosis. (cam.ac.uk)
A study led by the University of Westminster has found greater evidence of genomic instability, a well-recognised enabler of cancer, in children and adolescents with obesity than those with a normal range body mass index (BMI). (bariatricnews.net)
Yao Y, Dai W. Genomic Instability and Cancer. (medium.com)
The role of emerin in coupling Wnt/beta-catenin signalling to genomic instability in cancer. (mpg.de)
Genomic instability ( GIN ) is a central feature of cancer and ageing that if prevented would lead to disease improvement thus representing an important therapeutic avenue. (ox.ac.uk)
Chronic hypoxia is associated with transcriptomic reprogramming and increased genomic instability in cancer cells. (ncbs.res.in)

The Y deletion and upregulation of Chk2 in early KS indicates genomic instability from early stage of KS. (biomedcentral.com)

Here, we describe these recent findings which place RECQL4 at the crossroads of genomic instability and aging processes. (nih.gov)

Therefore identification of the cellular compartment which displays genomic instability may have a significant Thiolutin impact on future therapeutic modalities. (bioerc-iend.org)

Conclusion We hypothesise that prolonged and repeated UVB exposure selects for skin cells bearing stable FOXM1 protein causes aberrant cell cycle checkpoint thereby allowing ectopic cell cycle entry and subsequent genomic instability. (qmul.ac.uk)
We systematically analyzed the expression of retrotransposons and performed genomic sequencing of different cell and tissue types with telomeres of varying lengths due to telomerase deficiency. (nature.com)
The genomic instability provides individuals a shorter cell cycle and/or an advantage of bypassing intracellular and immunological control systems. (medium.com)

Genomic DNA was isolated from the microdissected FFPE sections using the QIAamp DNA FFPE Tissue kit (Qiagen) which will be referred to as U-SQ (Unstained slides, Scraped harvest method, Qiagen extraction column). (medscape.com)

Given the potentially serious sequelae of significant atlantoaxial dysfunction, patients with defined instability are restricted from participating in contact sports and in sports requiring significant cervical flexion or extension. (medscape.com)

This suggests that genomic instability phenotypes other than karyotypic instability also may exist. (nih.gov)

Experimental Design: Tissue samples from 43 human primary endometrioid endometrial adenocarcinomas (EACs) were analyzed for CI and MI status using comparative genomic hybridization and 11 microsatellite loci, respectively. (elsevierpure.com)

Anatomy23

Organisms5

Diseases32

Chemicals and Drugs58

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Phenomena and Processes136

Disciplines and Occupations4

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Health Care2

Chromosomal7

Microsatellite instability3

Genome9

Mutations10

Showed increased genomic instability1

Result in genomic instability1

Significance of genomic instability1

Mutation8

Maintenance of genomic stability2

Alterations3

Stability8

Oxidative DNA damage2

Gene3

Mechanisms3

Chromosome1

Progression4

Colorectal1

Loss of heterozygos1

Genes2

Embryonic2

Somatic1

Inflammation3

Tumorigenesis3

Genetic instability1

Accumulation1

Phenotype1

Replication2

DAMAGE7

Telomere1

Recurrent1

Tumors1

Hallmark2

Cancer10

Upregulation1

Processes1

Cellular1

Cell3

FFPE1

Dysfunction1

Suggests1

Human1