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Erika Urbano Lima, Ileana G S Rubio, Joaquim Custodio Da Silva, Ana Luiza Galrão, Danielle Pêssoa, Taise Cerqueira Oliveira, Fabiane Carrijo, Igor Silva Campos, Luciano Fonseca Espinheira, Luiz Jose Sampaio, Claudio Rogerio Lima, Janete Maria Cerutti and Helton Estrela Ramos

technologies such as DNA microarray, proteomic techniques and epigenetic profile analysis ( 3 ) which have ushered in the discovery of novel biomarkers and targets for drug design. More specifically, thyroid carcinogenesis and progression has been shown to be

Open access

Jairo Arturo Pinzón-Cortés, Angelina Perna-Chaux, Nicolás Steven Rojas-Villamizar, Angélica Díaz-Basabe, Diana Carolina Polanía-Villanueva, María Fernanda Jácome, Carlos Olimpo Mendivil, Helena Groot and Valeriano López-Segura

at the population level. This environmental influence can also be explained from an epigenetic perspective. For example, the fetus and neonate development conditions have a significant influence on the onset of T2DM and obesity without inducing

Open access

Huguette S Brink, Aart Jan van der Lely and Joke van der Linden

obesity and T2DM ( 7 , 8 ). Long-term maternal risks include T2DM and cardiovascular disease ( 9 ). Currently, the GD diagnosis is made during the late second trimester, possibly exposing the infant to intrauterine metabolic alterations and epigenetic

Open access

Magnolia Ariza-Nieto, Joshua B Alley, Sanjay Samy, Laura Fitzgerald, Francoise Vermeylen, Michael L Shuler and José O Alemán

physiologically active and the concept of adiponectin insensitivity is well accepted ( 3 ). Adiponectin secretion has been suggested to be regulated by epigenetic mechanisms ( 4 ), and interventions that activate its physiological secretion levels hold promise for

Open access

E T Aristizabal Prada and C J Auernhammer

over the last few years. Hallmarks of gastrointestinal NET development have been defined ( 9 , 10 ) and our understanding of genetics ( 11 , 12 , 13 ), epigenetics ( 14 , 15 ), tumourigenesis ( 9 ), angiogenesis ( 9 ), novel biomarkers ( 10 ) and

Open access

Kris Giulia Samsom, Linde M van Veenendaal, Gerlof D. Valk, Menno R. Vriens, Margot Tesselaar and Jose G van den Berg

Background: Small intestinal neuroendocrine tumours (SI-NETs) represent a heterogeneous group of rare tumours. In recent years, basic research in SI-NETs has attempted to unravel the molecular events underlying SI- NET tumorigenesis.

Aim: We aim to provide an overview of the current literature regarding prognostic and predictive molecular factors in patients with SI-NETs.

Method: A PubMed search was conducted on (epi)genetic prognostic factors in SI-NETs from 2000 until 2019.

Results: The search yielded 1522 articles of which 18 reviews and 35 original studies were selected for further evaluation. SI-NETs are mutationally quiet tumours with a different genetic make-up compared to pancreatic NETs. Loss of heterozygosity at chromosome 18 is the most frequent genomic aberration (44-100%) followed by mutations of CDKN1B in 8%. Prognostic analyses were performed in 16 studies, of which 8 found a significant (epi)genetic association for survival or progression. Loss of heterozygosity at chromosome 18, gains of chromosome 4,5, 7, 14 and 20p, copy gain of the SRC gene and low expression of RASSF1A and P16 were associated with poorer survival. In comparison with genetic mutations, epigenetic alterations are significantly more common in SI-NETs and may represent more promising targets in the treatment of SI-NETs.

Conclusion: SI-NETs are mutationally silent tumours. No biomarkers have been identified yet that can easily be adopted into current clinical decision making. SI-NETs may represent a heterogeneous disease and larger international studies are warranted to translate molecular findings into precision oncology.

Open access

T P McVeigh, R J Mulligan, U M McVeigh, P W Owens, N Miller, M Bell, F Sebag, C Guerin, D S Quill, J B Weidhaas, M J Kerin and A J Lowery


MicroRNAs (miRNAs) are small noncoding RNA molecules that exert post-transcriptional effects on gene expression by binding with cis-regulatory regions in target messenger RNA (mRNA). Polymorphisms in genes encoding miRNAs or in miRNA–mRNA binding sites confer deleterious epigenetic effects on cancer risk. miR-146a has a role in inflammation and may have a role as a tumour suppressor. The polymorphism rs2910164 in the MIR146A gene encoding pre-miR-146a has been implicated in several inflammatory pathologies, including cancers of the breast and thyroid, although evidence for the associations has been conflicting in different populations. We aimed to further investigate the association of this variant with these two cancers in an Irish cohort.


The study group comprised patients with breast cancer (BC), patients with differentiated thyroid cancer (DTC) and unaffected controls. Germline DNA was extracted from blood or from saliva collected using the DNA Genotek Oragene 575 collection kit, using crystallisation precipitation, and genotyped using TaqMan-based PCR. Data were analysed using SPSS, v22.


The total study group included 1516 participants. This comprised 1386 Irish participants; 724 unaffected individuals (controls), 523 patients with breast cancer (BC), 136 patients with differentiated thyroid cancer (DTC) and three patients with dual primary breast and thyroid cancer. An additional cohort of 130 patients with DTC from the South of France was also genotyped for the variant. The variant was detected with a minor allele frequency (MAF) of 0.19 in controls, 0.22 in BC and 0.27 and 0.26 in DTC cases from Ireland and France, respectively. The variant was not significantly associated with BC (per allele odds ratio = 1.20 (0.98–1.46), P = 0.07), but was associated with DTC in Irish patients (per allele OR = 1.59 (1.18–2.14), P = 0.002).


The rs2910164 variant in MIR146A is significantly associated with DTC, but is not significantly associated with BC in this cohort.

Open access

Djeda Belharazem, Matthias Kirchner, Franziska Geissler, Peter Bugert, Martin Spahn, Burkhard Kneitz, Hubertus Riedmiller, Christian Sauer, Stefan Küffer, Lutz Trojan, Christian Bolenz, Maurice Stephan Michel, Alexander Marx and Philipp Ströbel

men over 65 years (3) . Age dependence in cancers could be the result of accumulation of DNA damage (4) or epigenetic changes (5) in somatic cells. Imprinting is one mechanism of epigenetic gene regulation. Imprinted genes carry epigenetic marks

Open access

André Marques-Pinto and Davide Carvalho

below). As programming of the hypothalamus–pituitary–gonadal (HPG) axis occurs during this period, ED exposure may determine fertility in the adulthood (79) . Epigenetic modifications may have an important role in the observed ED effects in

Open access

Legh Wilkinson, Nicolette J D Verhoog and Ann Louw

expression GRα protein expression References Epigenetic DNA methylation of GRα gene • Rodents: exon 1 7 • Humans: exon 1 F , exon 1 C , exon 1 B , exon 1 H , exon 1D Rodent Human Reduced Reduced Reduced Reduced ( 30