Current Genomics - Volume 18, Issue 3, 2017

In eukaryotes, mitosis is tightly regulated to avoid the generation of numerical chromosome aberrations, or aneuploidies. The aneuploid phenotype is a consequence of chromosomal instability (CIN), i.e., an enhanced rate of chromosome segregation errors, which is frequently found in cancer cells and is associated with tumor aggressiveness and increased tumor cell survival potential. To avoid the generation of aneuploidies, c Read More

Prostate cancer (PC) is the most common uro-oncological disease in the global population and still requires a more efficient laboratory diagnosis. Point mutations of oncogenes and tumor suppressor genes are the most frequent molecular genetic events in carcinogenesis. The mutations are responsible, to a great extent, for the clonal evolution of cancer and can be considered as primary candidate molecular markers of PC. Read More

Papillary microcarcinoma of the thyroid (mPTC) is defined by the WHO as a papillary thyroid 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 clinical course and carry an excellent prognosis, it is known that a small subset may display a potentiall Read More

Sequence alterations of the mitochondrial DNA (mtDNA) have been identified in many tumor types. Their nature is not entirely clear. Somatic mutation or shifts of heteroplasmic mtDNA variants may play a role. These sequence alterations exhibit a sufficient frequency in all tumor types investigated thus far to justify their use as a tumor marker. This statement is supported by the high copy number of mtDNA, which facilit Read More

Background: Alternative splicing (AS) is a posttranscriptional process that produces different transcripts from the same gene and is important to produce diverse protein products in response to environmental stimuli. AS occurs at specific sites on the mRNA sequence, some of which have been defined. Multiple bioinformatics tools have been developed to detect AS from experimental data. Objectives: The goal of this revie Read More

Background: DNA transposons helitrons are mobile genetic elements responsible for major movements of the genetic material within and across different genomes. This ability makes helitrons suitable candidate elements for the development of new approaches of multilocus genotyping of livestock animals, along with the well-known microsatellite loci. Objective: We aimed to estimate the informativeness of helitron and mic Read More

Background: Relatively little cancer genome atlas data has been associated with clinically relevant stratifications of individual cancers. Results: Mutations in two subsets of a cytoskeletal related and adhesion-related protein coding region set (CAPCRs) were determined to have strong associations with a negative outcome for melanoma, including a subset constituted by: DSCAM, FAT3, MUC17 and PCDHGC5 (p < 0.0001 Read More

Background: Type 2 diabetes (T2D) is a common multi-factorial disease that is primarily accounted to ineffective insulin action in lowering blood glucose level and later escalates to impaired insulin secretion by pancreatic β cells. Deregulation in insulin signaling to its target organs is attributed to this disease phenotype. Various genome-wide microarray studies from multiple insulin responsive tissues have been conducted in pas Read More