• and (3) Rapp-Hodgkin syndrome, all of which are caused by mutations in the TP63 gene. (medscape.com)
  • PTEN hamartoma syndrome encompasses hamartomatous disorders characterized by genetic mutations in the PTEN tumor suppressor gene, including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome. (wikipedia.org)
  • Familial adenomatous polyposis (FAP) is a familial cancer syndrome caused by mutations in the APC gene. (wikipedia.org)
  • Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in the genes TSC1 and TSC2. (wikipedia.org)
  • Mutations in the MEN1 gene have been found in some cases of familial isolated hyperparathyroidism, a condition characterized by overactivity of the parathyroid glands (primary hyperparathyroidism). (medlineplus.gov)
  • Many of the mutations in the MEN1 gene that are associated with familial isolated hyperparathyroidism change single protein building blocks (amino acids) in the menin protein. (medlineplus.gov)
  • Familial isolated hyperparathyroidism caused by MEN1 gene mutations may be an early or mild form of multiple endocrine neoplasia type 1. (medlineplus.gov)
  • More than 1,300 mutations in the MEN1 gene have been found to cause multiple endocrine neoplasia type 1. (medlineplus.gov)
  • Most of the MEN1 gene mutations that cause multiple endocrine neoplasia type 1 lead to the production of an abnormally short, inactive version of menin or an unstable protein that is rapidly broken down. (medlineplus.gov)
  • As a result of these mutations, one copy of the MEN1 gene in each cell makes no functional protein. (medlineplus.gov)
  • Some gene mutations are acquired during a person's lifetime and are present only in certain cells. (medlineplus.gov)
  • Children born with germline mutations tend to have bilateral tumors. (molvis.org)
  • During cancer initiation, transcription factors can exhibit somatic mutations including point mutations in regulatory domains or undergo copy number variations due to genetic deletion. (centenary.org.au)
  • To understand the impact of somatic mutations on key regulatory genes in cancer, we are performing cell growth and DNA-binding assays, loss- or gain-of-function studies, examining protein-protein interactions and transcriptomics. (centenary.org.au)
  • Molecular characterization and identification of mutations have important implications for predictive, preventive, and personalized medicine, including genetic counseling and development of specific treatment protocols. (eurjbreasthealth.com)
  • The most common cause of hereditary breast cancer is because of inherited germline mutations in the high-penetrant cancer predisposition genes BRCA1 and BRCA2 . (eurjbreasthealth.com)
  • Germline TP53 mutations are associated with Li-Fraumeni syndrome, a rare autosomal dominant genetic disorder. (eurjbreasthealth.com)
  • Although germline TP53 mutations are rare and seen in approximately 1% of all breast cancers, the lifetime risk of breast cancer in TP53 mutation carriers is nearly 80-90%, considerably greater than for other genes (4). (eurjbreasthealth.com)
  • Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. (cancerindex.org)
  • PJS is autosomal-dominant condition caused by mutations of STK11, characterized by gastrointestinal polyposis, mucocutaneous pigmentation, and predisposition to a range of epithelial cancers: including colorectal, gastric, pancreatic, breast, ovarian cancers and sex cord tumors with annular tubules). (cancerindex.org)
  • Mutations of the LKB1 and SMAD4 genes have been shown recently to cause a number of PJS and JPS cases respectively, but there remains considerable uncharacterized genetic heterogeneity in these syndromes, particularly JPS. (ox.ac.uk)
  • Mutations of the VHL gene are associated with Von Hippel-Lindau disease. (standardofcare.com)
  • The disease is caused by mutations of the VHL gene on the short arm of the third chromosome (3p26-p25). (standardofcare.com)
  • In VHL disease, genetic mutations cause alterations to the pVHL protein, usually to the HIF1α binding site. (standardofcare.com)
  • We analysed 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA. (nih.gov)
  • The heterogeneity of mutations, coupled with the large size of the gene, indicates that clinical application of BRCA1 mutation testing will be technically challenging. (nih.gov)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • These are as follows: sustained proliferative signalling, cell death resistance, replicative immortality, genome instability and increased mutations, tumour-promoted inflammation, insensibility to growth repressors, deregulation of cellular energetics, evasion of immune destruction, induction of metastasis, and promotion of angiogenesis. (hindawi.com)
  • One clear group of people identified in this analysis is men with mutations in a gene called FOXA1 . (mskcc.org)
  • Men with FOXA1 mutations in their tumor have a worse prognosis than men without these mutations. (mskcc.org)
  • Germline mutations in the VHL gene predispose individuals to a variety of tumors, including renal carcinoma, CNS hemangioblastoma, islet cell tumors of the pancreas, and pheochromocytoma. (nih.gov)
  • We have recently developed an improved method of detecting germline mutations in the von Hippel-Lindau disease tumor suppressor gene. (nih.gov)
  • Genetic changes that are characteristic of EBVaGC include frequent mutations in PIK3CA and ARID1A and amplification of JAK2 and PD-L1/L2. (spandidos-publications.com)
  • Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. (lu.se)
  • Germline mutations in the NOTCH1 , NOTCH2 and NOTCH3 genes cause Adams-Oliver syndrome, Alagille syndrome and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, respectively ( 4 ), and DLL4-NOTCH3 signaling in human vascular organoids induces basement membrane thickening and drives vasculopathy in the diabetic microenvironment ( 5 ). (spandidos-publications.com)
  • Of the most frequently mutated genes in SCLC, mutations in the CREB binding protein ( CREBBP ) gene can be found in 15-17% of patients. (fredhutch.org)
  • There is thus the assumption that in solid tumors such as SCLC that almost invariably harbor TP53 mutations, CREBBP cannot act through this mechanism to exert tumor suppressor function. (fredhutch.org)
  • Chromosome 21 gene dosage effects and truncating mutations of the X-chromosomal transcription factor GATA1 synergize to trigger TMD and AMKL in most patients. (embl.de)
  • Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. (nih.gov)
  • APC gene mutations on chromosome 5q21. (pdfcookie.com)
  • We observed gain of functions in VHL mutations, thereby stabilizing HIF2α protein and reprograming HIF2α genome-wide target gene transcriptional programs. (biomedcentral.com)
  • Cancer arises from the consecutive acquisition of genetic alterations that, in general, can be recognized as the combination of the loss of function or transcriptional down-regulation of particular genes (tumor suppressor genes) and the activation or transcriptional up-regulation of other genes (oncogenes) [ 3 ]. (biomedcentral.com)
  • The normal versions of genes in the first group are called proto-oncogenes. (cancerquest.org)
  • The mutated or otherwise damaged versions of these genes are called oncogenes. (cancerquest.org)
  • A useful analogy to consider when thinking about tumor suppressors and oncogenes is an automobile. (cancerquest.org)
  • We have two copies of each gene and for oncogenes, a single defective copy is enough to cause a cell to divide. (cancerquest.org)
  • Numerous genes have been identified as proto-oncogenes. (cancerquest.org)
  • As stated in the introduction to this section, the defective versions of these genes, known as oncogenes, can cause a cell to divide in an unregulated manner. (cancerquest.org)
  • The tumor suppressor genes are inactivated, and the oncogenes are dominant during the formation of the tumor [ 9 ]. (hindawi.com)
  • The aberrant transcription of key oncogenes is driven by super-enhancers (SEs), which are characterized by large clusters of enhancers with significantly high density of transcription factors, cofactors, and epigenetic modulatory proteins. (ijbs.com)
  • The multistep transformation of normal cells into malignant cells involves genetic and epigenetic alterations that promote the aberrant expression of critical oncogenes and tumor suppressor genes [ 1 , 2 ]. (ijbs.com)
  • This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. (cancerindex.org)
  • The protein functions as a tumor suppressor. (standardofcare.com)
  • Our study is the first to provide demonstrate that KLF6 functions as a tumor suppressor gene and prevents the metastasis of oral cancer cells. (medsci.org)
  • KLF6 functions as a tumor suppressor gene and increases p21 expression via p53-independent pathway [ 3 ]. (medsci.org)
  • Using several genetic models, Dr. David MacPherson and members of his laboratory (Human Biology Division), along with collaborators from the University of Virginia, showed that CREBBP indeed functions as a tumor suppressor independent of p53 in SCLC. (fredhutch.org)
  • Many types of benign tumors have the potential to become cancerous (malignant) through a process known as tumor progression. (wikipedia.org)
  • We assessed a methylation panel of 5 genes to study their association to GC progression and microsatellite instability (MSI), and studied the role of RUNX3 in GC pathogenesis and the tumor immune microenvironment. (oncotarget.com)
  • Hypermethylation of tumour suppressors and other aberrations of DNA methylation in tumours play a significant role in cancer progression. (ipmnet.ru)
  • BACKGROUND: Ferroptosis is related to the immunosuppression of tumors and plays a critical role in cancer progression. (bvsalud.org)
  • The VHL syndrome, generally caused by hereditary allele inactivation plus a tissue somatic mutation, is characterized by the occurrence of malignancies and increased expression of oncogenic genes, including VEGF, that allow tumor development and progression. (standardofcare.com)
  • Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
  • The loss of KLF6 expression is also correlated with cancer progression, tumor recurrence, and short survival time in head and neck carcinomas [ 7 ]. (medsci.org)
  • Although the identification of tumor pathways and specific mediators of OS progression, novel approaches for targeting OS are being developed. (ijofb.org)
  • Breast cancer is a heterogeneous disease, but the identification of shared mechanisms that drive tumor progression has significantly improved patients' treatment in the last decades. (biomedcentral.com)
  • In order to accomplish this, a more thorough understanding of the relationship between oxidative stress and the steps of prostate tumor progression is needed. (pharmaceuticalintelligence.com)
  • Its occurrence, development, and progression are a critical process involving multiple factors and steps [ 2 ]. (hindawi.com)
  • Furthermore, while overexpression of ITCH expression in breast cells is associated with increased incidence of mammary tumor formation and progression, its knockdown inhibited breast cancer cell tumorigenicity and metastasis. (oncotarget.com)
  • Aberrant epigenetic modifications play a vital role in the progression of digestive system tumors. (ijbs.com)
  • We highlight the role of SE-driven genes, enhancer RNAs (eRNAs), lncRNAs, and miRNAs in the digestive system tumor growth and progression. (ijbs.com)
  • Aberrant changes in epigenetic mechanisms regulating DNA methylation, histone methylation and acetylation, expression of noncoding RNAs, and mRNA methylation are associated with the initiation, growth, and progression of digestive system tumors [ 2 , 4 ]. (ijbs.com)
  • This leads to the activation of genes and the production of proteins that increase cell growth. (wikipedia.org)
  • Menin interacts with many other proteins, including several transcription factors. (medlineplus.gov)
  • Researchers are working to identify the proteins that interact with menin and determine its specific role as a tumor suppressor. (medlineplus.gov)
  • The multifunctional regulator nuclear factor erythroid 2-related factor (Nrf2) is considered not only as a cytoprotective factor regulating the expression of genes coding for anti-oxidant, anti-inflammatory and detoxifying proteins, but it is also a powerful modulator of species longevity. (springer.com)
  • The major characteristics of Nrf2 are to some extent mimicked by Nrf2-dependent genes and their proteins including heme oxygenase-1 (HO-1), which besides removing toxic heme, produces biliverdin, iron ions and carbon monoxide. (springer.com)
  • This heterodimer of HIF activates genes that encode for proteins such as vascular endothelial growth factor (VEGF) and erythropoietin, proteins that are both involved in angiogenesis. (standardofcare.com)
  • Here, we determine the coordinated function of cancer gene products (i.e., proteins encoded by differentially expressed genes in tumors relative to healthy tissue counterparts, hereafter referred to as "CGPs") defined as their topological properties and organization in the interactome network. (biomedcentral.com)
  • In order to develop a systems-level understanding of cellular transformation it would therefore be necessary to determine the properties and organization of CGPs (proteins encoded by differentially expressed genes in tumors relative to healthy tissue counterparts) in cellular networks. (biomedcentral.com)
  • And the LEF / TCF family transcription factor, along with other proteins, binds to DNA and inhibits gene expression. (researchsquare.com)
  • Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
  • Krüppel-like factors (KLFs) are highly conserved zinc-finger proteins that regulate cellular transcription machinery [ 1 , 2 ]. (medsci.org)
  • This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. (cancerindex.org)
  • In order to further study the function of the VHL gene, additional studies of VHL-associated proteins have been carried out. (nih.gov)
  • Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. (lu.se)
  • The STAT proteins (Signal Transducers and Activators of Transcription), were identified in the last decade as transcription factors which were critical in mediating virtually all cytokine driven signaling. (nih.gov)
  • These proteins are latent in the cytoplasm and become activated through tyrosine phosphorylation which typically occurs through cytokine receptor associated kinases (JAKs) or growth factor receptor tyrosine kinases. (nih.gov)
  • In contrast, in many cancerous cell lines and tumors, where growth factor dysregulation is frequently at the heart of cellular transformation, the STAT proteins (in particular Stats 1, 3 and 5) are persistently tyrosine phosphorylated or activated. (nih.gov)
  • Finally, we discuss clinical significance of the CRISPR-Cas9 gene editing system and inhibitors of SE-related proteins such as BET and CDK7 as potential cancer therapeutics. (ijbs.com)
  • Transcription factors may regulate gene expression through direct or indirect, histone-mediated interaction with DNA methyltransferases, which seem to be unaffected by the interaction with other types of proteins. (epigenie.com)
  • Specialized cell structures called ribosomes are the cellular organelles that actually synthesize the proteins (RNA transcription). (cdc.gov)
  • Inactivation of the APC gene leads to the buildup of a protein called β-catenin. (wikipedia.org)
  • Inactivation of the TSC tumor suppressors causes an increase in mTOR activity. (wikipedia.org)
  • Epigenetic alterations, such as DNA methylation are considered pivotal in the inactivation of tumor-related genes. (oncotarget.com)
  • Recent research has classified lung adenocarcinoma patients with KRAS mutation into three subtypes by co-occurring genetic events in TP53 (KP subgroup), STK11/LKB1 (KL subgroup) and CDKN2A/B inactivation plus TTF-1 low expression (KC subgroup). (cancerindex.org)
  • Inactivation of Von Hippel-Lindau Tumour Suppressor gene (VHL) by genetic or epigenetic events, which also induces aberrant activation of HIF1A, is the most common driver event for renal cancer. (ipmnet.ru)
  • Together, our results reveal that ITCH pro-tumorigenic functions in breast cancer are mediated, at least in part, through inactivation of the Hippo tumor suppressor pathway. (oncotarget.com)
  • Mutational inactivation of APC causes disruption of tight linkage between cells may promote invasive tumour growth. (pdfcookie.com)
  • Von Hippel-Lindau disease is a dominantly inherited cancer syndrome that significantly increases the risk of various tumors. (wikipedia.org)
  • HIF-1α is known to be mainly post-transcriptionally regulated by protein ubiquitination and interaction with the Von Hippel-Lindau tumour suppressor protein, and then degraded by the proteasome. (biomedcentral.com)
  • The Von Hippel-Lindau tumor suppressor also known as pVHL is a protein that, is encoded by the VHL gene. (standardofcare.com)
  • The VHL tumor suppressor gene is the gene for both von Hippel-Lindau disease as well as sporadic, clear-cell renal carcinoma. (nih.gov)
  • Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic neoplastic disorder caused by germline mutation or deletion of the VHL gene, characterized by the tendency to develop multisystem benign or malignant tumors. (biomedcentral.com)
  • HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
  • Breast tumors can be divided into subtypes using two parameters: (I) At the molecular level based on the protein expression of three receptors: estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) [ 2 ]. (biomedcentral.com)
  • Gene ID: 5925, OMIM 614041 ) gene, which encodes a tumor suppressor protein. (molvis.org)
  • TP53 is a tumor suppressor gene that encodes tumor protein p53, a transcription factor. (eurjbreasthealth.com)
  • This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. (cancerindex.org)
  • This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. (nih.gov)
  • Cancer precision medicine implies identification of tumor-specific vulnerabilities associated with defined oncogenic pathways. (xenbase.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • In addition, correlations between FANCD2 expression and the dryness index, tumor mutational burden, microsatellite instability (MSI), immune pathways, genes involved in iron metabolism, and sorafenib chemotherapeutic response were analyzed. (bvsalud.org)
  • Here, we review the role of ferroptosis in p53-mediated tumor suppression, with a focus on what cellular factors are critical for p53-dependent ferroptosis during tumor suppression and how p53 modulates both the canonical (GPX4-dependent) and the non-canonical (GPX4-independent) ferroptosis pathways. (nature.com)
  • Cellular transformation therefore requires dynamic interconnectedness, where specific changes in the information circuitry primarily dictated by up- or down-regulated genes activate or deactivate pathways and, finally, change the cell phenotype. (biomedcentral.com)
  • These abnormalities result in significant alterations in gene expression related to cell proliferation, apoptosis, migration and immune signaling pathways. (spandidos-publications.com)
  • We also studied RUNX3 expression by immunohistochemistry (IHC) in 40 samples, and validated differences in methylation levels between tumor, normal, and immune tissue in 14 additional samples. (oncotarget.com)
  • Methylation profile of the promoter CpG islands of 14 "drug-resistance" genes in hepatocellular carcinoma. (wjgnet.com)
  • To establish the DNA methylation patterns of the promoter CpG islands of 14 "drug-resistance" genes in hepatocellular carcinoma (HCC). (wjgnet.com)
  • The methylation specific polymerase chain reaction in conjunction with sequencing verification was used to establish the methylation patterns of the 14 genes in the liver tissues of four healthy liver donors, as well as tumor and the paired non-cancerous tissues of 30 HCC patients. (wjgnet.com)
  • Abnormal methylation of Grainyhead-like 2 (GRHL2) is associated with a substantial role in the malignant phenotype of tumor patients. (hindawi.com)
  • research shows that about 90% of the blood system of malignant tumors with at least the height of single gene methylation is closely related since this is a reversible process of genetic modification can be through to handle to restore the normal expression of gene methylation, to achieve the purpose of prevention and treatment of tumor [ 10 ]. (hindawi.com)
  • In addition, we performed genome-wide stratified and interaction analyses by gender, smoking and airway obstruction status, and assessed associations between gene expression and methylation for genome-wide significant CpGs (n=2802). (bmj.com)
  • 0.05) associated with differential DNA methylation of 31 CpGs annotated to 29 genes. (bmj.com)
  • Chapter 5.5 discusses the continually evolving area of epigenetic research involving methylation regulation at specific gene loci. (epigenie.com)
  • DNA methylation is working in concert with histone biochemistry, with specific post-translational modification of histones exposing or protecting gene promoters from DNA methyltransferases. (epigenie.com)
  • Epigenetic control of miRNAs might be achieved through methylation of the CpG islands found in the proximity of their coding regions or indirectly by methylating the promoters of transcription factors involved in their regulation. (epigenie.com)
  • Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. (cancerindex.org)
  • Hypoxia-inducible factor 1 (HIF-1) is a master transcriptional regulator of genes regulating oxygen homeostasis. (biomedcentral.com)
  • The response to hypoxia is mainly achieved through activation of the transcriptional program associated with HIF1A transcription factor. (ipmnet.ru)
  • We showed that global genome hypermethylation in VHL mutants can be explained by transcriptional changes in MDH and L2HGDH genes that cause the accumulation of 2-hydroxyglutarate - a metabolite that inhibits DNA demethylation by TET enzymes. (ipmnet.ru)
  • Furthermore, post-transcriptional gene expression regulation by cellular and/or EBV-derived microRNAs has attracted considerable attention. (spandidos-publications.com)
  • Furthermore, we discuss recent findings on EBV associated gastric carcinogenesis by focusing on the roles of latent genes, epigenetic abnormalities, genomic alterations, and post-transcriptional regulation by cellular and viral microRNAs (miRNAs). (spandidos-publications.com)
  • The p53 tumor suppressor protein plays a critical role in orchestrating the genomic response to various stress signals by acting as a master transcriptional regulator. (escholarship.org)
  • JMJD2B induction attenuates the transcription of key p53 transcriptional targets including p21, PIG3 and PUMA, and this modulation is dependent on the catalytic capacity of JMJD2B. (escholarship.org)
  • CREBBP is involved in the transcriptional coactivation of many different transcription factors, important for influencing critical processes such as embryonic development, cell growth control and homeostasis by coupling chromatin remodeling to transcription factor binding. (fredhutch.org)
  • CREBBP expression in neuroendocrine tumor cells promotes a cellular adhesion related transcriptional program, where E-CADHERIN (CDH1) was of particular interest. (fredhutch.org)
  • Phosphorylated STATs form homo- or hetero-dimers, enter the nucleus and working coordinately with other transcriptional co-activators or transcription factors lead to increased transcriptional initiation. (nih.gov)
  • In the post-genomic era, the cancer research is focused on the dysregulation of transcriptional dysregulation mediated by epigenetic modifications in the enhancer, SE, and gene promoter regions of key tumor suppressor and tumor-promoting genes [ 5 , 6 ]. (ijbs.com)
  • However, there is a bidirectional effect, with miRNAs also having post-transcriptional effects on DNA methyltransferases and their recruiting DNA binding factors. (epigenie.com)
  • Transcription factors (TFs) are critical for B-cell differentiation, affecting gene expression both by repres- sion and transcriptional activation. (lu.se)
  • The roles played by genetic and epigenetic alterations in causing GC are being increasingly recognized, but currently only HER2 overexpression is used as a marker for target-based therapy [ 2 ]. (oncotarget.com)
  • These VHL alterations lead to a predisposition to a somatic second hit, causing of a variety of tumors and fluid filled cysts, sporadic tumors, such as cerebellar hemangioblastoma, pheochromocytoma, clear cell renal cell carcinoma, familial erythrocytosis type two, that result in increased expression of HIF target genes. (standardofcare.com)
  • Cancer arises from the consecutive acquisition of genetic alterations. (biomedcentral.com)
  • Epigenetics indicates the alterations of gene expression levels mediated by nongene sequence changes. (hindawi.com)
  • By contrast, somatic alterations in the genes encoding Notch signaling components drive various types of human cancer, such as breast cancer, small-cell lung cancer (SCLC) and T-cell acute lymphoblastic leukemia (T-ALL) ( 6 - 9 ). (spandidos-publications.com)
  • the majority of these genetic alterations are not easily druggable, neither have they been validated for their role in SCLC pathogenesis. (fredhutch.org)
  • Direct and indirect ionization of DNA is ultimately responsible for the DNA alterations that adversely affect the structural and genetic integrity of the system. (cdc.gov)
  • The immune system consists of a large number of molecules and processes, and immunodeficiencies can therefore be caused by genetic alterations at many loci. (lu.se)
  • Despite the differences in their normal roles, these genes all contribute to unregulated cell division if they are present in a mutant (oncogenic) form. (cancerquest.org)
  • A murine CRC model, engineered with an inducible transgene encoding oncogenic mutant KRAS G12D and conditional null alleles of Apc and Trp53 tumor suppressors (designated iKAP), revealed higher metastases and worse outcomes specifically in males with oncogenic mutant KRAS (KRAS*) CRC. (tmc.edu)
  • Previous studies have shown that some EBV latent genes have oncogenic properties. (spandidos-publications.com)
  • The Notch signaling network exerts oncogenic and tumor‑suppressive effects in a cancer stage‑ or (sub)type‑dependent manner. (spandidos-publications.com)
  • Furthermore, we discuss the oncogenic roles and regulatory mechanisms of SEs in the digestive system tumors. (ijbs.com)
  • Deep study of RUNX3 inflammation signaling could help in understanding inflammation and immune activation in the tumor microenvironment. (oncotarget.com)
  • Notch signaling cascades crosstalk with fibroblast growth factor and WNT signaling cascades in the tumor microenvironment to maintain cancer stem cells and remodel the tumor microenvironment. (spandidos-publications.com)
  • This approach has the potential to reduce treatment adaptation while at the same time providing therapeutic anti-cancer benefits such as reducing tumor growth and metastatic potential. (bvsalud.org)
  • Gastric cancer (GC) pathogenesis involves genetic, epigenetic and environmental factors. (oncotarget.com)
  • This process is mediated by various enzymes modifying chromatin structures to achieve the diversity of epigenetic space and the intricacy in gene expression files. (frontiersin.org)
  • Recent advances in genome-wide and comprehensive molecular analyses have demonstrated that both genetic and epigenetic changes contribute to EBVaGC carcinogenesis. (spandidos-publications.com)
  • Global CpG island hypermethylation, which induces epigenetic silencing of tumor suppressor genes, is also a unique feature of EBVaGC and is considered to be crucial for its carcinogenesis. (spandidos-publications.com)
  • It is believed that the occurrence of leukemia is the result of genetic and epigenetic changes in protooncogene and tumor suppressor genes [ 8 ]. (hindawi.com)
  • The SEs consist of critical epigenetic regulatory elements, which modulate the biological characteristics of digestive system tumors including tumor cell identity and differentiation, tumorigenesis, environmental response, immune response, and chemotherapeutic resistance. (ijbs.com)
  • Epigenetic modifications alter cellular plasticity, differentiation, and reprogramming without changing the primary DNA sequence or the genetic code of organisms [ 3 ]. (ijbs.com)
  • SEs are defined as large clusters of active enhancers in large clusters that are enriched with high levels of transcription factors (TFs), master co-factors, mediator complexes, RNA polymerase II (RNA pol II), and epigenetic modifications [ 5 , 7 ]. (ijbs.com)
  • Genomic Imprinting is a classic epigenetic topic because of its unusual role in creating uni-parental gene expression for establishing complex traits and it's apparent environmental sensitivity. (epigenie.com)
  • Increasing evidence shows that noncoding RNAs can bind chromatin modifying enzymes directly or interact with specific sites of the DNMT1, 3A and 3B genes, thus acting through alternative mechanisms as important epigenetic controllers. (epigenie.com)
  • The epigenetic regulation of gene expression is based upon a concerted interaction of specialized enzymes, transcription factors and miRNAs which coexist in a reciprocal, self-regulating system. (epigenie.com)
  • Benign tumor growth causes a mass effect that can compress neighboring tissues. (wikipedia.org)
  • The aim of this study was to determine the frequency of germline variants in BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 in patients admitted to a medical genetics clinic with breast cancer and to assess these identified variants according to published genetic, surgical and oncological perspectives. (eurjbreasthealth.com)
  • The exonic regions and exon-intron junctions in BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 genes were sequenced. (eurjbreasthealth.com)
  • Beside these genes, advances in DNA sequencing techniques, such as next generation sequencing, have helped to identify additional breast cancer susceptibility genes, including TP53, CDH1, PALB2 and PTEN and various rare gene variants have also been reported to increase the risk of developing breast cancer. (eurjbreasthealth.com)
  • Tumor protein p53 ( TP53 ) is one of the most mutated genes in cancer, including breast cancer. (eurjbreasthealth.com)
  • The tumor suppressor TP53 (also called p53) has been among the most extensively studied genes since its discovery in 1979 [ 1 , 2 ]. (nature.com)
  • These studies provide new insights into the regulatory effect exerted by JMJD2B on tumor growth through the modulation of p53 target genes. (escholarship.org)
  • Both of these mechanisms prevent YAP and TAZ translocation to the nucleus and binding to TEAD transcription factors, thereby inhibiting transcription of downstream target genes implicated in proliferation, anti-apoptosis and EMT [ 9 ]. (oncotarget.com)
  • encoded by Nfe2l2 gene) is a transcription factor responsible for the regulation of cellular redox balance and protective antioxidant and phase II detoxification responses in mammals [ 1 , 2 ]. (springer.com)
  • This receptor is found in moderate levels on some normal cells and as the gene's name implies, it is involved in cellular responses to growth factors. (cancerquest.org)
  • Krüppel-like factors can bind to specific DNA motifs and regulate various cellular functions, such as metabolism, cell proliferation, and differentiation. (medsci.org)
  • The cellular transcription factor Elongin (SIII) has been identified as a functional target of the VHL protein. (nih.gov)
  • Canonical Notch signaling activates the transcription of BMI1 proto‑oncogene polycomb ring finger, cyclin D1, CD44, cyclin dependent kinase inhibitor 1A, hes family bHLH transcription factor 1, hes related family bHLH transcription factor with YRPW motif 1, MYC, NOTCH3, RE1 silencing transcription factor and transcription factor 7 in a cellular context‑dependent manner, while non‑canonical Notch signaling activates NF‑κB and Rac family small GTPase 1. (spandidos-publications.com)
  • To dissect the molecular underpinnings of the relationship between CREBBP and CDH1, the authors showed that histone acetylation may be the method by which CREBBP is regulating the expression of CDH1 and other cellular adhesion genes. (fredhutch.org)
  • The essential chromatin organising protein and tumour suppressor gene CTCF is central to our research focus. (centenary.org.au)
  • Differential gene activity is controlled by transcription factors but also dependent on the underlying chromatin structure, especially on covalent histone modifications. (escholarship.org)
  • This information is embedded at multiple levels - in the regulatory information of individual genes, in the partitioning of that sequence into chromatin domains, and in the spatial segregation of these domains into functionally distinct regions of the nucleus. (yale.edu)
  • Using existing datasets containing super-enhancer-associated genes identified in breast tumors and public databases comprising genomic and clinical information for breast cancer patients, we investigated whether highly expressed super-enhancer-associated genes correlate to breast cancer patients' poor prognosis and to patients' poor response to therapy. (biomedcentral.com)
  • To grasp the most important trends, we use global genomic technologies to investigate many genes simultaneously. (yale.edu)
  • Recently, pol III and core components of the pol III complex such as TFIIIC have been demonstrated to establish boundaries between genomic domains, and regulate gene expression within those domains. (yale.edu)
  • [ 8 ] Other classification systems categorize the ectodermal dysplasias based on defects in cell-cell communication and signaling, adhesion, transcription regulation, or development. (medscape.com)
  • Gene regulation is frequently dysregulated in cancer. (centenary.org.au)
  • Thus, upregulation of Y chromosome KDM5D in cancer cells and immune cells collaboratively contributes to the sex differences in CRC via its disruption of cancer cell adhesion properties and regulation of tumor immunity, providing an actionable therapeutic strategy for metastasis risk reduction for men afflicted with KRAS* CRC. (tmc.edu)
  • It also modulates gene transcription and recombination [ 7 ]. (hindawi.com)
  • The most studied target of VHL is hypoxia inducible factor 1a (HIF1a), a transcription factor that induces the expression of a number of angiogenesis related factors. (standardofcare.com)
  • As the cancer volume increases, the cancer may release angiogenesis factors, such as vascular endothelial growth factor (VEGF), which promote formation of new blood vessels that are required for further growth. (msdmanuals.com)
  • Hyperactivation of the Wnt/β-catenin signaling pathway via truncation of Apc or constitutive activation of β-catenin induces desmoid tumors in X. tropicalis. (xenbase.org)
  • CDH1 is also a tumor suppressor, and the authors showed that reduced expression of CDH1 induces a partial EMT program when CREBBP is inactivated. (fredhutch.org)
  • Our methodology CRISPR/Cas9 selection-mediated identification of dependencies (CRISPR-SID) uses calculated deviations between experimentally observed gene editing outcomes and deep -learning-predicted double-strand break repair patterns to identify genes under negative selection during tumorigenesis. (xenbase.org)
  • Sanger sequencing of a dissected desmoid tumor demonstrates base pair edits culminating in amino acid changes corresponding the human S45F mutation in CTNNB1 associated with sporadic desmoid tumorigenesis. (xenbase.org)
  • In mouse models of leukemia and lymphoma, CREBBP has been shown to function as a tumor suppressor, where the loss of CREBBP-mediated acetylation and activation of p53 drives tumorigenesis. (fredhutch.org)
  • Given these in vivo data, the authors reasoned that Crebbp loss cooperates with Rb1/Trp53 deletion to drive tumorigenesis in neuroendocrine tumors through gene expression, and compared the transcriptomes of tumors with and without Crebbp deletion. (fredhutch.org)
  • Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. (cancerindex.org)
  • These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
  • Although menin appears to be necessary for preventing tumor formation, researchers have not determined how a lack of this protein leads to the specific tumors characteristic of multiple endocrine neoplasia type 1. (medlineplus.gov)
  • A benign tumor is a mass of cells (tumor) that does not invade neighboring tissue or metastasize (spread throughout the body). (wikipedia.org)
  • Benign tumors have relatively well differentiated cells. (wikipedia.org)
  • This protein acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. (medlineplus.gov)
  • Without normal menin function, cells likely divide too frequently, leading to the formation of tumors involving the parathyroid glands. (medlineplus.gov)
  • Without menin, these cells can divide too frequently and form a tumor. (medlineplus.gov)
  • In vitro models of patient desmoid tumor cells revealed a direct effect of Tazemetostat on Wnt pathway activity. (xenbase.org)
  • Single cells and organisms may adapt to harmful oxidative stress conditions, through stress-activated factors. (springer.com)
  • Also, Quantitative RT-PCR was used to evaluate the mRNA expression level of genes related to the Wnt signal pathway in treated cancer cells and control groups. (researchsquare.com)
  • Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
  • Integrated cross-species molecular and transcriptomic analyses identified Y-chromosome gene histone demethylase KDM5D as a transcriptionally up-regulated gene driven by KRAS*-mediated activation of the STAT4 transcription factor in cancer cells. (tmc.edu)
  • Conversely, iAP mice engineered with a Kdm5d transgene to provide constitutive Kdm5d expression specifically in iAP cancer cells exhibited an increased propensity for more invasive tumors in vivo . (tmc.edu)
  • Our computational findings were experimentally confirmed in breast cancer cells by pharmacological SE disruption and gene silencing techniques. (biomedcentral.com)
  • Finally, we showed that decreasing NSMCE2 gene expression increases breast cancer cells' sensitivity to chemotherapy treatment. (biomedcentral.com)
  • Our scientists pursue every aspect of cancer research-from exploring the biology of genes and cells, to developing immune-based treatments, uncovering the causes of metastasis, and more. (mskcc.org)
  • The uniformity of the numbers of terminal repeats (TRs) among EBV positive carcinoma cells reflects the clonal origin of a tumor and suggests that EBV is a causative virus for gastric carcinoma ( 6 ). (spandidos-publications.com)
  • Functionally, exogenous expression of JMJD2B enhanced subcutaneous tumor growth of colon cancer cells in a p53-dependent manner, and genetic inhibition of JMJD2B impaired tumor growth in vivo. (escholarship.org)
  • We wish to understand how germ cells protect their DNA, while turning different genes on and off at the right times to make functional sperm and eggs. (yale.edu)
  • Because the genes in C. elegans are related to those in higher organisms, the results from our studies should help us to understand how germ cells function in humans as well. (yale.edu)
  • Additionally, the tumor suppressor activity of CREBBP was also demonstrated in other neuroendocrine tumors such as pituitary and thyroid tumors using genetic mouse models where Rb1 , Tpr53 and Crebbp genes are deleted in neuroendocrine cells. (fredhutch.org)
  • Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. (nih.gov)
  • Many factors are involved in causing and permitting the unregulated proliferation of cells that occurs in cancer. (msdmanuals.com)
  • Initial exponential tumor growth is followed by a plateau phase when cell death nearly equals the rate of formation of daughter cells. (msdmanuals.com)
  • Small tumors have a greater percentage of actively dividing cells than do large tumors. (msdmanuals.com)
  • GEP analyses were performed on highly purified, flow-cytometry sorted tumor-cells from eight subgroups of BCLs. (lu.se)
  • This enabled identification of TFs that can be uniquely associated to the tumor cells of chronic lymphocytic leukemia (CLL), diffuse large B-cell lymphoma (DLBCL), follicular lymphoma (FL), hairy cell leukemia (HCL), and mantle cell lymphoma (MCL). (lu.se)
  • Basal cell carcinoma (BCC) is a nonmelanocytic skin cancer (ie, an epithelial tumor) that arises from basal cells (ie, small, round cells found in the lower layer of the epidermis). (medscape.com)
  • For example, unlike most benign tumors elsewhere in the body, benign brain tumors can be life-threatening. (wikipedia.org)
  • CRISPR-SID: Identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping. (xenbase.org)
  • Desmoid tumors are soft- tissue neoplasms strictly driven by Wnt signaling network hyperactivation. (xenbase.org)
  • This revealed EZH2 and SUZ12 , both encoding polycomb repressive complex 2 components, and the transcription factor CREB3L1 as genetic dependencies for desmoid tumors. (xenbase.org)
  • A) X. tropicalis carrying a germline heterozygous 1-base pair deletion in the MCR of the apc gene (c.4120del, apcMCR-Δ1/+) develop desmoid tumors with a 100% penetrance at 3 y of age (Left). (xenbase.org)
  • The desmoid tumors present as T2 hyperintense foci on MRI (Middle, intersection of the crosshairs) and are characterized by classical desmoid tumor histopathology of long sweeping fascicles composed of uniform and slender fibroblasts/myofibroblasts (Right). (xenbase.org)
  • B) apc CRISPR/Cas9 injections in the vegetal-dorsal blastomere leads to mosaic mutant animals that manifest several desmoid tumors. (xenbase.org)
  • These desmoid tumors exhibit active and high Wnt signaling activity as demonstrated by GFP expression using a Wnt reporter line (WntREs:dEGFP) (15) (Middle). (xenbase.org)
  • Classical histopathology of desmoid tumors with long sweeping fascicles of bland fibroblasts/myofibroblasts exhibiting, in this case, local invasion into musculature (Right). (xenbase.org)
  • C) Injection of a BE3 cytosine base editor with a ctnnb1 gRNA leads to development of desmoid tumors. (xenbase.org)
  • Penetrance of desmoid tumors by 3 mo of age is 100% for apc CRISPR/Cas9-injected animals and 87.5% for ctnnb1 base-edited animals (Scale bar in histology picture, 100 µm). (xenbase.org)
  • Assessing and classifying editing outcomes at CRISPR/Cas9 target sites of candidate dependency genes in apc mutant desmoid tumors. (xenbase.org)
  • Desmoid tumors were dissected from 3-mo-old postmetamorphic animals, and both CRISPR/Cas9 target sites were subjected to targeted amplicon sequencing to determine gene editing outcomes. (xenbase.org)
  • B) Indels and allelic status at the suspected dependency CRISPR/Cas9 target sites in dissected desmoid tumors. (xenbase.org)
  • Phase III clinical trials of Rova‑T for patients with small‑cell lung cancer and a phase III clinical trial of nirogacestat for patients with desmoid tumors are ongoing. (spandidos-publications.com)
  • Postoperative radiation can also be a useful adjunct when patients have aggressive tumors that were treated surgically or when surgery has failed to clear the margins of the tumor. (medscape.com)
  • In vivo EZH2 inhibition by Tazemetostat induced partial regression of established autochthonous tumors. (xenbase.org)
  • CRISPR-SID represents a potent approach for in vivo mapping of tumor vulnerabilities and drug target identification. (xenbase.org)
  • We address these questions in vivo with unprecedented cell specificity and comprehensiveness, utilizing innovative methods to investigate how genome structure and organization influences gene expression specifically in the C. elegans germ line. (yale.edu)
  • Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. (lu.se)
  • Hereditary nonpolyposis colorectal cancer (HNPCC) - Mutation in genes involved in repairing DNA mismatches occurring during DNA replication. (pdfcookie.com)
  • Further analysis of independent cohorts of patients with renal carcinoma revealed specific HIF2α gene expression signatures in the context of VHL Ser65Pro or Ser65Trp mutation, showing high correlations with hypoxia and epithelial-mesenchymal transition signaling activities and strong associations with poor prognosis. (biomedcentral.com)
  • Early identification affected individuals with asymptomatic VHL disease-associated tumors and mutation carriers via genetic recognition and rational medical interventions would improve patients' survival rates and quality of life. (biomedcentral.com)
  • Germline heterozygous mutation of the VHL tumor suppressor gene, located on 3p25.3, encoding VHL tumor suppressor protein (pVHL), has been identified as the leading cause of VHL disease. (biomedcentral.com)
  • Cowden syndrome is an autosomal dominant genetic disorder characterized by multiple benign hamartomas (trichilemmomas and mucocutaneous papillomatous papules) as well as a predisposition for cancers of multiple organs including the breast and thyroid. (wikipedia.org)
  • We have also recently identified a new phenotype associated with complete deletion of the VHL gene and are studying the somatic events associated with the development of cancer in this syndrome. (nih.gov)
  • In breast cancers HIF-1α splice variant levels were compared to clinicopathological parameters including tumour microvessel density and metastasis-free survival. (biomedcentral.com)
  • Li XP, Qu J, Teng XQ, Zhuang HH, Dai YH, Yang Z, Qu Q. The Emerging Role of Super-enhancers as Therapeutic Targets in The Digestive System Tumors. (ijbs.com)
  • B-cell lymphomas (BCLs) constitute a diverse set of tially identify new functional, diagnostic, and therapeutic tumors, both morphologically and clinically, that are mainly targets. (lu.se)
  • Here, we aimed to identify novel super-enhancer dysregulated genes highly associated with breast cancer patients' poor prognosis and negative response to treatment. (biomedcentral.com)
  • We bioinformatically identified two novel super-enhancer-associated genes - NSMCE2 and MAL2 - highly upregulated in breast tumors, for which high RNA levels significantly and specifically correlate with breast cancer patients' poor prognosis. (biomedcentral.com)
  • Through in-vitro pharmacological super-enhancer disruption assays, we confirmed that super-enhancers upregulate NSMCE2 and MAL2 transcriptionally, and, through bioinformatics, we found that high levels of NSMCE2 strongly associate with patients' poor response to chemotherapy, especially for patients diagnosed with aggressive triple negative and HER2 positive tumor types. (biomedcentral.com)
  • Sex exerts a profound impact on cancer incidence, spectrum and outcomes, yet the molecular genetic bases of such sex differences are ill-defined and presumptively ascribed to X-chromosome genes and sex hormones. (tmc.edu)
  • Loss of heterozygosity at a locus on chromosome 8 in a high percentage of tumors from patients with prostate carcinoma has been detected and the area of minimal deletion on chromosome 8p12-21 determined. (nih.gov)
  • A tumour suppressor gene on chromosome 5q21. (pdfcookie.com)
  • Compared to malignant (cancerous) tumors, benign tumors generally have a slower growth rate. (wikipedia.org)
  • Common examples of benign tumors include moles and uterine fibroids. (wikipedia.org)
  • Some forms of benign tumors may be harmful to health. (wikipedia.org)
  • The health effects of benign tumor growth may be more prominent if the tumor is contained within an enclosed space such as the cranium, respiratory tract, sinus, or bones. (wikipedia.org)
  • For this reason and other possible harms, some benign tumors are removed by surgery. (wikipedia.org)
  • When removed, benign tumors usually do not return. (wikipedia.org)
  • Bowel intussusception can occur with various benign colonic tumors. (wikipedia.org)
  • These factors cause the upregulation of many genes involved in cell proliferation, differentiation, migration and apoptosis (programmed cell death), causing the growth of benign tumors. (wikipedia.org)
  • This disorder presents with many benign hamartomatous tumors including angiofibromas, renal angiomyolipomas, and pulmonary lymphangiomyomatosis. (wikipedia.org)
  • Using real-time quantitative reverse transcription PCR assays, we measured mRNA concentrations of total HIF-1α and 4 variants in breast tissue specimens in a series of 29 normal tissues or benign lesions (normal/benign) and 53 primary carcinomas. (biomedcentral.com)
  • Resolving the Pathogenesis of Anaplastic Wilms Tumors through Spatial Mapping of Cancer Cell Evolution. (lu.se)
  • Furthermore, our mouse models of those genetic lesions that result in genetic haploinsufficiency are helping us to understand cancer causation in various tissues and organs and their impact on normal gene regulatory homeostasis. (centenary.org.au)
  • The etiology of breast cancer is multifactorial and complex, and most cases are sporadic, although genetic factors play an important role. (eurjbreasthealth.com)
  • The results were validated both by gene expression analysis and immunohistochemistry study in an independent 55 clinical samples from Fudan University Shanghai Cancer Center. (cancerindex.org)
  • Marked variation in rates of prostate cancer among populations in different parts of the world suggests the involvement of genetic factors. (medscape.com)
  • METHODS: The expression of FANCD2 in Hepatitis B-related HCC was explored using The Cancer Genome Atlas (TCGA) and validated using the Gene Expression Omnibus (GEO) database. (bvsalud.org)
  • HIF transcription factor distribution in kidney cancer is of major importance in determining the outcome of the patients. (standardofcare.com)
  • As a consequence of genetic and molecular analyses, the sequence of events that contributes to certain types of human cancer, for example colorectal cancer [ 2 ], is relatively well characterized. (biomedcentral.com)
  • Identification of a minimum number of genes to predict triple-negative breast cancer subgroups from gene expression profiles. (fondazionetempia.org)
  • A diagram showing the major cancer genes for some cancers. (cancerquest.org)
  • The larger the gene name, the more frequently that gene is defective in that cancer type. (cancerquest.org)
  • These genes have been found to be either malfunctioning or non-functioning in many different kinds of cancer. (cancerquest.org)
  • Despite today's advances in the treatment of cancer, breast cancer-related mortality remains high, in part due to the lack of effective targeted therapies against breast tumor types that do not respond to standard treatments. (biomedcentral.com)
  • MSK cancer researchers Elizabeth Adams, Charles Sawyers, and Rohit Bose are studying the underlying biology of prostate cancer tumors in order to develop better treatments. (mskcc.org)
  • That is the message emerging from gene-sequencing projects like The Cancer Genome Atlas , which sought to map the mutational landscape of the most common cancers. (mskcc.org)
  • How changes in this gene lead to cancer is currently unknown. (mskcc.org)
  • However, much of the genetic contribution to breast cancer risk remains unknown. (cancerindex.org)
  • The identical genetic loss has been shown to be associated with prostate intraepithelial neoplasia (PIN), a precursor lesion in prostate cancer. (nih.gov)
  • In collaboration with scientists in the Laboratory of Pathology , a technique for recovering and analyzing RNA from microdissected prostate cancer and by differential gene expression analysis has been developed, and a novel zinc finger gene upregulated in prostate cancer has been identified. (nih.gov)
  • Loss of expression of the homeobox transcription factor NKX3.1 in the prostate is frequently associated with human prostate cancer. (pharmaceuticalintelligence.com)
  • Tumour like growths which can develop into "full blown" cancer. (pdfcookie.com)
  • Digestive system tumors including esophageal cancer, colorectal cancer, gastric cancer, pancreatic cancer, hepatic cancer, cholangiocarcinoma, and gallbladder carcinoma are associated with significantly high mortality and morbidity rates [ 1 ]. (ijbs.com)
  • Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. (cancerindex.org)
  • A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study. (nih.gov)
  • HIF1A binds upstream of majorly good prognosis genes, while HIF2A binds upstream to majorly poor prognosis genes. (standardofcare.com)
  • The term acute myeloid leukemia (AML) collectively refers to a mixture of distinct diseases that differ with regard to their pathogenetic evolution, genetic abnormalities, clinical features, response to therapy, and prognosis. (ashpublications.org)
  • We investigated the expression of genes of interest using quantitative reverse transcription PCR. (molvis.org)
  • Transcription factors bind to specific areas of DNA and help control whether particular genes are turned on or off. (medlineplus.gov)
  • Although the conventional activities of p53 such as cell cycle arrest, senescence, and apoptosis are well accepted as the major checkpoints in stress responses, accumulating evidence implicates the importance of other tumor suppression mechanisms. (nature.com)
  • Is p53-dependent ferroptosis sufficient for tumor suppression in the absence of cell cycle arrest, senescence, and apoptosis? (nature.com)
  • To date, various mechanisms have been suggested to explain the powerful tumor-suppressive effect of p53, including the induction of cell cycle arrest, senescence, and apoptosis. (nature.com)
  • The Hippo kinase pathway is emerging as a conserved signaling pathway that controls cell proliferation, apoptosis, contact inhibition, cell migration, cell differentiation, stem cell self-renewal, genetic stability, and epithelial-to-mesenchymal transition (EMT). (oncotarget.com)
  • Krüppel-like factor 6 (KLF6), a member of this family, is downregulated in human cancers. (medsci.org)
  • Vascular tissue tumors can bleed, in some cases leading to anemia. (wikipedia.org)
  • Finally, the Normal-like classified tumors show high expression levels of many genes expressed by adipose tissue and other nonepithelial cell types and are characterized by gene expression patterns that are similar to those of normal breast tissue. (biomedcentral.com)
  • How does genome organization stabilize and instruct tissue-specific gene expression? (yale.edu)
  • However, most GEP studies have typically been performed on whole tissue samples, containing varying degrees of tumor cell content, which results in uncertainties in data analysis. (lu.se)
  • This protein activates two transcription factors: T-cell factor (TCF) and lymphoid enhancer factor (LEF). (wikipedia.org)
  • Some of these genes likely play a role in cell growth and division. (medlineplus.gov)
  • If the second copy of the MEN1 gene is also altered, the cell has no working copies of the gene and does not produce any functional menin. (medlineplus.gov)
  • We also demonstrated that the −657 to +411 DCT promoter fragment efficiently directs RB cell-specific transcription of the luciferase reporter gene in cell lines. (molvis.org)
  • The regulatory elements required for this cell-specific gene expression are likely located within its proximal promoter. (molvis.org)
  • The initiation and development of tumor cell is accompanied by elevated stresses, such as oncogene activation, DNA damage, genome instability, and reprogrammed tumor metabolism. (nature.com)
  • Therefore, we investigated the combined effect of Temozolomide (TMZ) and KC7F2 on cell survival and changes in gene expression in the Wnt signal pathway. (researchsquare.com)
  • The genes that have been identified to date have been categorized into two broad categories, depending on their normal functions in the cell. (cancerquest.org)
  • This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
  • Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
  • Many of these genes are responsible for providing the positive signals that lead to cell division. (cancerquest.org)
  • This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
  • As shown below, binding of the growth factor can lead to cell division. (cancerquest.org)
  • Osteosarcoma (OS), referred to as osteogenic sarcoma, is the most common primary malignant bone tumor excluding plasma cell tumors. (ijofb.org)
  • Such DNA damage may not necessarily give rise to a malignant cell as there are a number of tumor-suppressor mechanisms. (ijofb.org)
  • Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in. (lu.se)
  • Rather, NAC treatment increased epithelial cell proliferation and promoted the expression of a pro-proliferative gene signature. (pharmaceuticalintelligence.com)
  • Utilizing cell-based and mouse models of p53-deficient, Rb1-deficient SCLC, the authors showed that loss of CREBBP resulted in more aggressive tumor growth and increased death in mice, validating the ability of CREBBP to function as a tumor suppressor in SCLC. (fredhutch.org)
  • 2) a more complete definition of the sets of genes which are activated by different STATs and (3) how these sets of activated genes differ as a function of cell type. (nih.gov)
  • VHL disease encompasses various types of tumors, including retinal or central nervous system hemangioblastoma (RH or CNSH), clear cell renal cell carcinoma (RCC), pheochromocytoma (PHE), multiple pancreatic cysts or tumors (PCT), epididymal or broad ligament cystadenomas and endolymphatic sac tumor. (biomedcentral.com)
  • When the genetic information containing the "blueprint" for these substances is disrupted, cell homeostasis is disrupted, resulting in a wide-range of immediate and/or delayed toxicological effects. (cdc.gov)
  • The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)
  • Digestive system tumors include malignancies of the stomach, pancreas, colon, rectum, and the esophagus, and are associated with high morbidity and mortality. (ijbs.com)
  • Crebbp deletion accelerate tumor growth and animal deaths. (fredhutch.org)
  • Kaplan-Meier tumor-free survival curves of genetic mouse models of SCLC with and without Crebbp deletion. (fredhutch.org)
  • The present work highlights that DCT is one of the most RB-specific genes. (molvis.org)
  • Our approach offers a new avenue to identify a signature of tumor specific genes that are not frequently mutated but dysregulated by super-enhancers. (biomedcentral.com)
  • Tumors that express hormone receptors ER and PR belong to the ER + PR + subtype, while hormone receptor negative tumors with elevated HER2 levels belong to the HER2 + subtype. (biomedcentral.com)
  • A third subtype called Triple Negative (TN) includes tumors that do not express ER, PR and HER2. (biomedcentral.com)
  • Moreover, tumors of this subtype do not express ER, PR and HER2 genes just like TN classified subtypes. (biomedcentral.com)
  • In addition, the drug combination approach significantly inhibited tumor growth in the xenograft model and prolonged the median survival. (bvsalud.org)
  • Ferroptosis acts as an independent pathway for suppressing tumor growth and is tightly connected with metabolism and oxidative stress responses. (nature.com)
  • HIF is necessary for tumor growth. (standardofcare.com)
  • In the animation below, these signals would be represented by the the 'X' shaped growth factor and the foot in the video portion. (cancerquest.org)
  • This growth can occur in the absence of normal pro-growth signals such as those provided by growth factors. (cancerquest.org)
  • [4] However, the OS of jaws peaks one or two decades after adolescence which excludes rapid bone growth as the major etiologic factor. (ijofb.org)
  • The slowing in growth rate may be related to exhaustion of the supply of nutrients and oxygen for the rapidly expanding tumor. (msdmanuals.com)
  • The reason for this is that Helicobacter Pylori ( H. pylori ), discovered in 1983 by Marshall and Warren, and classified as a definite carcinogen by World Health Organization in 1994, has been regarded as the major factor in almost all gastric carcinomas worldwide ( 7 - 9 ). (spandidos-publications.com)
  • In addition, HER2-enriched tumors highly express several genes in the HER2 amplicon at 17q22.24 including HER2. (biomedcentral.com)
  • Whole exome sequencing of patients who experienced severe influenza reveals several genes, including scaffold protein AHNAK, with predicted loss-of-function variants that are also identified in our proteomic analyses. (cdc.gov)