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Open access

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

Elham Barazeghi, Per Hellman, Gunnar Westin, and Peter Stålberg

give rise to carcinoid syndrome as a major cause of morbidity and mortality in approximately 20% of SI-NET patients. To date, genetic and epigenetic alterations in SI-NETs are poorly studied. Massive DNA sequencing analysis on SI-NETs revealed that

Open access

K G Samsom, L M van Veenendaal, G D Valk, M R Vriens, M E T Tesselaar, and J G van den Berg

patients with sporadic SI-NETs, the determinant of genetic or epigenetic alterations and the outcomes of prognosis, survival or progression. Synonyms of SI-NETs and (epi)genetic alterations with the outcome described as prognosis, survival and progression

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

A H Ludwig-Slomczynska, S Borys, M T Seweryn, J Hohendorff, P Kapusta, B Kiec-Wilk, E Pitera, P P Wolkow, and M T Malecki

standard therapy ( 9 ). In light of this prior evidence of differential expression of several genes between the two treatment methods ( 9 ), it seemed strongly justified to test whether these can also be seen at the epigenetic level of gene methylation, a

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

Roberto Cosimo Melcangi, Livio Casarini, Marco Marino, Daniele Santi, Samantha Sperduti, Silvia Giatti, Silvia Diviccaro, Maria Grimoldi, Donatella Caruso, Guido Cavaletti, and Manuela Simoni

and gut microbiota composition ( 28 ). A possible hypothesis for the persistent side effects may be epigenetic modifications occurring in PFS patients. Indeed, downregulation and hypermethylation of 5α-R were observed in the rodent nervous system and

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

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.