Familial Colorectal Cancer Type X.

Abstract:

:The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to localize new FCCTX genes, along with an overview of the genes and chromosomal areas that possibly relate to FCCTX. FCCTX is a heterogeneous group, mainly comprising cases caused by single high-penetrance genes, or by multiple low-penetrance genes acting together, and sporadic CRC cases. FCCTX differs in clinical, morphological and molecular genetic characteristics compared to LS, including a later age of onset, distal location of tumours in the colon, lower risk of developing extracolonic tumours and a higher adenoma/carcinoma ratio, which indicates a slower progression to CRC. Certain characteristics are shared with sporadic CRC, e.g. similarities in gene expression and a high degree of CIN+, with significanly increased 20q gain in FCCTX. Other molecular characteristics of FCCTX include longer telomere length and hypomethylation of LINE-1, both being a possible explanation for CIN+. Some genes in FCCTX families (RPS20, BMPR1A, SEMA4A) have been identified by using a combination of linkage analysis and sequencing. Sequencing strategies and subsequent bioinformatics are improving fast. Exome sequencing and whole genome sequencing are currently the most promising tools. Finally, the involvement of CNV's and regulatory sequences are widely unexplored and would be interesting for further investigation in FCCTX.

journal_name

Curr Genomics

journal_title

Current genomics

authors

Zetner DB,Bisgaard ML

doi

10.2174/1389202918666170307161643

subject

Has Abstract

pub_date

2017-08-01 00:00:00

pages

341-359

issue

4

eissn

1389-2029

issn

1875-5488

pii

CG-18-341

journal_volume

18

pub_type

杂志文章,评审
  • EGFR Intron Recombination in Human Gliomas: Inappropriate Diversion of V(D)J Recombination?

    abstract::The epidermal growth factor receptor (EGFR) is a membrane-bound, 170 kDa, protein tyrosine kinase that plays an important role in tumorigenesis. The EGFR gene, which is composed of over 168 kb of sequence, including a 123-kb first intron, is frequently amplified and rearranged in malignant gliomas leading to the expre...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920207780833838

    authors: Fenstermaker RA,Ciesielski MJ

    更新日期:2007-05-01 00:00:00

  • Transcriptional Regulation of Telomeric Expression Sites and Antigenic Variation in Trypanosomes.

    abstract:Introduction:Trypanosoma brucei uses antigenic variation to evade the host antibody clearance by periodically changing its Variant Surface Glycoprotein (VSGs) coat. T. brucei encode over 2,500 VSG genes and pseudogenes, however they transcribe only one VSG gene at time from one of the 20 telomeric Expression Sites (ESs...

    journal_title:Current genomics

    pub_type: 杂志文章,评审

    doi:10.2174/1389202918666170911161831

    authors: Cestari I,Stuart K

    更新日期:2018-02-01 00:00:00

  • Genetic alterations in poorly differentiated and undifferentiated thyroid carcinomas.

    abstract::Thyroid gland presents a wide spectrum of tumours derived from follicular cells that range from well differentiated, papillary and follicular carcinoma (PTC and FTC, respectively), usually carrying a good prognosis, to the clinically aggressive, poorly differentiated (PDTC) and undifferentiated thyroid carcinoma (UTC)...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920211798120853

    authors: Soares P,Lima J,Preto A,Castro P,Vinagre J,Celestino R,Couto JP,Prazeres H,Eloy C,Máximo V,Sobrinho-Simões M

    更新日期:2011-12-01 00:00:00

  • Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders.

    abstract::Genomic disorders are a clinically diverse group of conditions caused by gain, loss or re-orientation of a genomic region containing dosage-sensitive genes. One class of genomic disorder is caused by hemizygous deletions resulting in haploinsufficiency of a single or, more usually, several genes. For example, the hete...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920208784340795

    authors: O'Driscoll M

    更新日期:2008-05-01 00:00:00

  • CENPA a genomic marker for centromere activity and human diseases.

    abstract::Inheritance of genetic material requires that chromosomes segregate faithfully during cell division. Failure in this process can drive to aneuploidy phenomenon. Kinetochores are unique centromere macromolecular protein structures that attach chromosomes to the spindle for a proper movement and segregation. A unique ty...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920209788920985

    authors: Valdivia MM,Hamdouch K,Ortiz M,Astola A

    更新日期:2009-08-01 00:00:00

  • The Genetics of Papillary Microcarcinomas of the Thyroid: Diagnostic and Prognostic Implications.

    abstract::Papillary microcarcinoma of the thyroid (mPTC) is defined by the WHO as a papillary thy-roid cancer measuring 10mm or less in diameter and it is nowadays a topic of intense debate among the members of the medical community due to its apparent "epidemic" rise. Although these tumors follow almost always an indolent clin...

    journal_title:Current genomics

    pub_type: 杂志文章,评审

    doi:10.2174/1389202918666170105094459

    authors: Rodrigues AC,Penna G,Rodrigues E,Castro P,Sobrinho-Simões M,Soares P

    更新日期:2017-06-01 00:00:00

  • WITMSG: Large-scale Prediction of Human Intronic m6A RNA Methylation Sites from Sequence and Genomic Features.

    abstract:Introduction:N6-methyladenosine (m6A) is one of the most widely studied epigenetic modifications. It plays important roles in various biological processes, such as splicing, RNA localization and degradation, many of which are related to the functions of introns. Although a number of computational approaches have been p...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/1389202921666200211104140

    authors: Liu L,Lei X,Meng J,Wei Z

    更新日期:2020-01-01 00:00:00

  • Application of genomic tools in plant breeding.

    abstract::Plant breeding has been very successful in developing improved varieties using conventional tools and methodologies. Nowadays, the availability of genomic tools and resources is leading to a new revolution of plant breeding, as they facilitate the study of the genotype and its relationship with the phenotype, in parti...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920212800543084

    authors: Pérez-de-Castro AM,Vilanova S,Cañizares J,Pascual L,Blanca JM,Díez MJ,Prohens J,Picó B

    更新日期:2012-05-01 00:00:00

  • Mapping the microRNA Expression Profiles in Glyoxalase Over-expressing Salinity Tolerant Rice.

    abstract::In the recent years, glyoxalase pathway has been an active area of research in both human and plants. This pathway is reported to confer stress tolerance in plants, by modulating the glutathione homeostasis to achieve detoxification of a potent cytotoxic and mutagenic compound, methylglyoxal. The microRNAs (miRNAs) ar...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/1389202918666170228134530

    authors: Tripathi A,Chacon O,Singla-Pareek SL,Sopory SK,Sanan-Mishra N

    更新日期:2018-01-01 00:00:00

  • miR-15b and miR-21 as Circulating Biomarkers for Diagnosis of Glioma.

    abstract::Malignant gliomas are lethal primary intracranial tumors. To date, little information on the role of deregulated genes in gliomas have been identified. As the involvement of miRNAs in the carcinogenesis is well known, we carried out a pilot study to identify, as potential biomarkers, differentially expressed microRNAs...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/1389202916666150707155610

    authors: Ivo D'Urso P,Fernando D'Urso O,Damiano Gianfreda C,Mezzolla V,Storelli C,Marsigliante S

    更新日期:2015-10-01 00:00:00

  • Overview of Genomic Tools for Circular Visualization in the Next-generation Genomic Sequencing Era.

    abstract::After human genome sequencing and rapid changes in genome sequencing methods, we have entered into the era of rapidly accumulating genome-sequencing data. This has derived the development of several types of methods for representing results of genome sequencing data. Circular genome visual-ization tools are also criti...

    journal_title:Current genomics

    pub_type: 杂志文章,评审

    doi:10.2174/1389202920666190314092044

    authors: Parveen A,Khurana S,Kumar A

    更新日期:2019-02-01 00:00:00

  • Single-cell RNA Sequencing: In-depth Decoding of Heart Biology and Cardiovascular Diseases.

    abstract:Background:The cardiac system is a combination of a complex structure, various cells, and versatile specified functions and sophisticated regulatory mechanisms. Moreover, cardiac diseases that encompass a wide range of endogenous conditions, remain a serious health burden worldwide. Recent genome-wide profiling techniq...

    journal_title:Current genomics

    pub_type: 杂志文章,评审

    doi:10.2174/1389202921999200604123914

    authors: Chen Z,Wei L,Duru F,Chen L

    更新日期:2020-12-01 00:00:00

  • Crosstalk Between DNA and Histones: Tet's New Role in Embryonic Stem Cells.

    abstract::Embryonic stem (ES) cells are characterized by the expression of an extensive and interconnected network of pluripotency factors which are downregulated in specialized cells. Epigenetic mechanisms, including DNA methylation and histone modifications, are also important in maintaining this pluripotency program in ES ce...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920212803759730

    authors: Sui X,Price C,Li Z,Chen J

    更新日期:2012-12-01 00:00:00

  • Genomics of Metal Stress-Mediated Signalling and Plant Adaptive Responses in Reference to Phytohormones.

    abstract:Introduction:As a consequence of a sessile lifestyle, plants often have to face a number of life threatening abiotic and biotic stresses. Plants counteract the stresses through morphological and physiological adaptations, which are imparted through flexible and well-coordinated network of signalling and effector molecu...

    journal_title:Current genomics

    pub_type: 杂志文章,评审

    doi:10.2174/1389202918666170608093327

    authors: Shukla A,Srivastava S,Suprasanna P

    更新日期:2017-12-01 00:00:00

  • Recent Advances in Understanding the Molecular Mechanisms Regulating the Root System Response to Phosphate Deficiency in Arabidopsis.

    abstract::Phosphorus (P) is an essential macronutrient for plant growth and development. Inorganic phosphate (Pi) is the major form of P taken up from the soil by plant roots. It is well established that under Pi deficiency condition, plant roots undergo striking morphological changes; mainly a reduction in primary root length ...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/1389202917666160331201812

    authors: Bouain N,Doumas P,Rouached H

    更新日期:2016-08-01 00:00:00

  • Microarray-based gene expression analysis of hepatocellular carcinoma.

    abstract::Microarray studies have successfully shed light on various aspects of the molecular mechanisms behind the development of hepatocellular carcinoma (HCC), such as the identification of novel molecular subgroups and the genetic profiles associated with metastasis and venous invasion. These experiments, mainly comprising ...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920210791233063

    authors: Maass T,Sfakianakis I,Staib F,Krupp M,Galle PR,Teufel A

    更新日期:2010-06-01 00:00:00

  • MicroRNAs in Lung Cancer Oncogenesis and Tumor Suppression: How it Can Improve the Clinical Practice?

    abstract:Background:Lung cancer (LC) development is a process that depends on genetic mutations. The DNA methylation, an important epigenetic modification, is associated with the expression of non-coding RNAs, such as microRNAs. MicroRNAs are particularly essential for cell physiology, since they play a critical role in tumor s...

    journal_title:Current genomics

    pub_type: 杂志文章,评审

    doi:10.2174/1389202921999200630144712

    authors: Pozza DH,De Mello RA,Araujo RLC,Velcheti V

    更新日期:2020-08-01 00:00:00

  • The Relation Between Promoter Chromatin Status, Xyr1 and Cellulase Ex-pression in Trichoderma reesei.

    abstract::The ascomycete Trichoderma reesei is used for the production of plant cell wall-degrading enzymes in industrial scale. The interplay of the transactivator Xyr1 and the repressor Cre1 mainly regulates the expression of these enzymes. During induc-ing conditions, such as in the presence of sophorose, the transcription o...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/1389202917666151116211812

    authors: Mello-de-Sousa TM,Rassinger A,Derntl C,Poças-Fonseca MJ,Mach RL,Mach-Aigner AR

    更新日期:2016-04-01 00:00:00

  • Array-based approaches for the identification of epigenetic silenced tumor suppressor genes.

    abstract::Carcinogenesis involves the inactivation or inhibition of genes that function as tumor suppressors. Deletions, mutations, or epigenetic silencing of tumor suppressor genes can lead to altered growth, differentiation, and apoptosis. DNA methylation and histone modifications are important epigenetic mechanisms of gene r...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920208783884892

    authors: Takai N,Narahara H

    更新日期:2008-03-01 00:00:00

  • Do mtDNA Mutations Participate in the Pathogenesis of Sporadic Parkinson's Disease?

    abstract::The pathogenesis of sporadic Parkinson's disease (PD) remains enigmatic. Mitochondrial complex-I defects are known to occur in the substantia nigra (SN) of PD patients and are also debated in some extracerebral tissues. Early sequencing efforts of the mitochondrial DNA (mtDNA) did not reveal specific mutations, but a ...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920209789503879

    authors: Kirches E

    更新日期:2009-12-01 00:00:00

  • Remodeling of Proteostasis Upon Transition to Adulthood is Linked to Reproduction Onset.

    abstract::Protein folding and clearance networks sense and respond to misfolded and aggregation-prone proteins by activating cytoprotective cell stress responses that safeguard the proteome against damage, maintain the health of the cell, and enhance lifespan. Surprisingly, cellular proteostasis undergoes a sudden and widesprea...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/1389202915666140221005023

    authors: Shai N,Shemesh N,Ben-Zvi A

    更新日期:2014-04-01 00:00:00

  • Application of functional genomics and proteomics to plant cryopreservation.

    abstract::Plant cryobiology has primarily emerged from the classical fields of cryobiology and plant stress physiology. Cryopreservation tools are now available to geneticists for germplasm preservation and the field itself is advancing significantly through the use of molecular techniques. Long-term preservation of vegetativel...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920210790217945

    authors: Volk GM

    更新日期:2010-03-01 00:00:00

  • Estrogen Regulation of MicroRNA Expression.

    abstract::Women outlive men, but life expectancy is not influenced by hormone replacement (estrogen + progestin) therapy. Estrogens appear to protect brain, cardiovascular tissues, and bone from aging. Estrogens regulate genes directly through binding to estrogen receptors alpha and beta (ERalpha and ERbeta) that are ligand-act...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920209788185289

    authors: Klinge CM

    更新日期:2009-05-01 00:00:00

  • Genomic and epigenomic instability, fragile sites, schizophrenia and autism.

    abstract::Increasing evidence links genomic and epigenomic instability, including multiple fragile sites regions to neuropsychiatric diseases including schizophrenia and autism. Cancer is the only other disease associated with multiple fragile site regions, and genome and epigenomic instability is a characteristic of cancer. Re...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920210793176001

    authors: Smith CL,Bolton A,Nguyen G

    更新日期:2010-09-01 00:00:00

  • Mechano-regulation of alternative splicing.

    abstract::Alternative splicing contributes to the complexity of proteome by producing multiple mRNAs from a single gene. Affymetrix exon arrays and experiments in vivo or in vitro demonstrated that alternative splicing was regulated by mechanical stress. Expression of mechano-growth factor (MGF) which is the splicing isoform of...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920213804999156

    authors: Liu H,Tang L

    更新日期:2013-03-01 00:00:00

  • Prostate Cancer Gene Regulatory Network Inferred from RNA-Seq Data.

    abstract:Background:Cancer is a complex disease with a lucid etiology and in understanding the causation, we need to appreciate this complexity. Objective:Here we are aiming to gain insights into the genetic associations of prostate cancer through a network-based systems approach using the BC3Net algorithm. Methods:Specifical...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/1389202919666181107122005

    authors: Moore D,Simoes RM,Dehmer M,Emmert-Streib F

    更新日期:2019-01-01 00:00:00

  • A Comprehensive Investigation of Potential Novel Marine Psychrotolerant Actinomycetes sp. Isolated from the Bay-of-Bengal.

    abstract:BACKGROUND:This study was carried out to classify the diversity of the deep marine psychrotolerant actinomycetes sp. nov., in the Bay of Bengal and exploit the production of cold-active industrial and pharmaceutical biomolecules. OBJECTIVE:1) Characterization, optimum the growth conditions and classify the diversity o...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/1389202921666200330150642

    authors: Ghosh M,Gera M,Singh J,Prasad R,Pulicherla KK

    更新日期:2020-05-01 00:00:00

  • Expression and function of bcl-2 proteins in melanoma.

    abstract::Bcl-2 proteins are critical regulators of mitochondrial membrane permeability and the proapoptotic mitochondrial pathway. The family encloses pro- and antiapoptotic factors encoded by over 15 genes, which frequently give rise to alternative splice products. Antiapoptotic, proapoptotic multidomain, and proapoptotic BH3...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920208785699571

    authors: Eberle J,Hossini AM

    更新日期:2008-09-01 00:00:00

  • Genome-scale studies of aging: challenges and opportunities.

    abstract::Whole-genome studies involving a phenotype of interest are increasingly prevalent, in part due to a dramatic increase in speed at which many high throughput technologies can be performed coupled to simultaneous decreases in cost. This type of genome-scale methodology has been applied to the phenotype of lifespan, as w...

    journal_title:Current genomics

    pub_type: 杂志文章

    doi:10.2174/138920212803251454

    authors: McCormick MA,Kennedy BK

    更新日期:2012-11-01 00:00:00

  • Post-translational Modifications are Required for Circadian Clock Regulation in Vertebrates.

    abstract::Circadian clocks are intrinsic, time-tracking systems that bestow upon organisms a survival advantage. Under natural conditions, organisms are trained to follow a 24-h cycle under environmental time cues such as light to maximize their physiological efficiency. The exact timing of this rhythm is established via cell-a...

    journal_title:Current genomics

    pub_type: 杂志文章,评审

    doi:10.2174/1389202919666191014094349

    authors: Okamoto-Uchida Y,Izawa J,Nishimura A,Hattori A,Suzuki N,Hirayama J

    更新日期:2019-08-01 00:00:00