Background Hereditary cancer predisposition syndromes are responsible for approximately 5–10% of all diagnosed cancer cases. In the past, single-gene analysis of specific high risk genes was used for the determination of the genetic cause of cancer heritability in certain families. The application of Next Generation Sequencing (NGS) technology has facilitated multigene panel analysis and is widely used in clinical practice, for the identification of individuals with cancer predisposing gene variants. The purpose of this study was to investigate the extent and nature of variants in genes implicated in hereditary cancer predisposition in individuals referred for testing in our laboratory. Methods In total, 1197 individuals from Greece, Romania and Turkey were referred to our laboratory for genetic testing in the past 4 years. The majority of referrals included individuals with personal of family history of breast and/or ovarian cancer. The analysis of genes involved in hereditary cancer predisposition was performed using a NGS approach. Genomic DNA was enriched for targeted regions of 36 genes and sequencing was carried out using the Illumina NGS technology. The presence of large genomic rearrangements (LGRs) was investigated by computational analysis and Multiplex Ligation-dependent Probe Amplification (MLPA). Results A pathogenic variant was identified in 264 of 1197 individuals (22.1%) analyzed while a variant of uncertain significance (VUS) was identified in 34.8% of cases. Clinically significant variants were identified in 29 of the 36 genes analyzed. Concerning the mutation distribution among individuals with positive findings, 43.6% were located in the BRCA1/2 genes whereas 21.6, 19.9, and 15.0% in other high, moderate and low risk genes respectively. Notably, 25 of the 264 positive individuals (9.5%) carried clinically significant variants in two different genes and 6.1% had a LGR. Conclusions In our cohort, analysis of all the genes in the panel allowed the identification of 4.3 and 8.1% additional pathogenic variants in other high or moderate/low risk genes, respectively, enabling personalized management decisions for these individuals and supporting the clinical significance of multigene panel analysis in hereditary cancer predisposition. Electronic supplementary material The online version of this article (10.1186/s12885-019-5756-4) contains supplementary material, which is available to authorized users.
Summary:Purpose: To assess familiarity, understanding, and attitude toward epilepsy in Greece and identification of negative predictive factors.Methods: A 19-item questionnaire was administered to 750 adults. The magnitude of social stigma toward epileptic people with epilepsy was measured with a quantitative scale of social rejection. Statistical analysis with chi-square and multiple regression analysis were used to identify factors associated with negative attitudes.Results: Of our respondents 38.8% knew someone with epilepsy and 50.8% had witnessed a seizure. Ninteen percent believed that epilepsy is a type of mental retardation, 15% believed it is a type of insanity, 91.8% considered epilepsy as a brain disorder while 5.2% considered it as a supernatural phenomenon. Seventy-seven percent considered epilepsy as a curable disease while 57.5% believed that the risk of inheriting it is very high.Regarding marriage to a patient with epilepsy 45.4% rejected it while regarding his employment 37.7% were positive, 47.8% were skeptical while 12.8% were against it. The Greek public's rejection tendency toward epileptic people was generally low. Negative predictive factors were older age, low educational level, unfamiliarity with epilepsy, and erroneous beliefs about epilepsy.Conclusions: The Greek public is familiar with epilepsy but has a suboptimal level of appropriate understanding of essential aspects of the disease. The overall public's level of rejection toward people with epilepsy is low but certain groups of people are highly rejective. Information campaigns targeting specific population subgroups are necessary in Greece in order to improve the public's understanding of epilepsy and tolerance toward people with epilepsy.
Biodiesel can be produced by domestic resources like straight vegetable oil, animal oil/fats, tallow and waste cooking oil. Its use, instead of the conventional diesel, contributes to the reduction of the CO 2 emissions. Production of biodiesel occurring from base catalyzed transesterification of the oil, direct acid catalyzed transesterification of the oil and/or conversion of the oil to its fatty acids and then to biodiesel. Two types of catalytic mechanisms can be used for the biodiesel production. These are the homogenous and heterogeneous catalytic processes. However, heterogeneous catalysis can be identified as solid and enzymatic. In addition solid heterogeneous catalysts can be classified as acid or base. Ηeterogeneous solid acid catalysts are of a great importance for biodiesel production. The most known catalysts of this type are zeolites, mixed oxides, sulfonic acid group catalysts, sulfonic acid modified mesoporus silica, heteropoly acids and polyoxonetalates, supported and substituted heteropoly acids and solid acids catalysts based in waste carbon. The major advantages of this type of catalysts are their reusability, their non-toxic and non-corrosive attributes as well as decrement of the biodiesel production cost.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.