Selected genetic factors increasing risk of neoplasia

Introduction: Neoplasia is defined as abnormal and excessive growth of selected tissue. Several factors, such as mutations in selected genes, can increase the risk of cancer expansion in human body. The aim of the article is to review the selected genetic factors which increase the risk of neoplasia and results of their presence in the human body. Material and methods: Articles in the Google Scholar, Pub Med database have been analysed using keywords: cancer, neoplasia, genetic factors, driver genes, cancer transformation, older people. Results: The aim of several genes is repairing damaged or dysfunctional DNA and preventing cells from abnormal or excessive. Mutations in selected genes cause inhibited production of the gene protein product or a change in its function, which increase the risk of neoplasia. The presence of mutated genes results in the initiation of the process leading to expansion of cancer cells in selected tissue. Moreover, a genetic mutation can lead to syndrome of tumors occurring in several organs. However, the increasement of cancer risk is related to numerous mutations, whereas the minority of carcinomas occur because of congenital gene defect and the majority is caused by environmental factors which contribute to creating various mutations. Conclusions: Thanks to the development of genetics in the field of medicine and introduction of genetic tests, the process of diagnosis of several tumors and syndromes is more efficient than in the past. The occurrence of mutation in genes, such as BRCA1, BRCA2, VHL, MSH2 and MLH1 and many more, relates to presence of selected tumors. By the introduction of pharmacogenetics, dozens of molecular-targeted drugs are used in the treatment of several types of cancers leading the achievement of therapeutic success. Nevertheless, the genetic background of many types of cancers is unknown and needs further study, as well as drugs targeting at selected genes mutations requires more development and guidelines in the treatment process. Keywords: cancer; neoplasia; genetic factors; driver genes; cancer transformation; older people

High-level rovibrational calculations on ketenimine

From an astrochemical point of view ketenimine (CH2CNH) is a complex organic molecule (COM) and therefore likely to be a building block for biologically relevant molecules. Since it has been detected in the star-forming region Sagittarius B2(N), it is of high relevance in this field. Although experimental data are available for certain bands, for some energy ranges such as above 1200 cm-1 reliable data virtually do not exist. In addition, high-level ab initio calculations are neither reported for ketenimine nor for one of its deuterated isotopologues. In this paper, we provide for the first time data from accurate quantum chemical calculations and a thorough analysis of the full rovibrational spectrum. Based on high-level potential energy surfaces obtained from explicitly correlated coupled-cluster calculations including up to 4-mode coupling terms, the (ro)vibrational spectrum of ketenimine has been studied in detail by variational calculations relying on rovibrational configuration interaction (RVCI) theory. Strong Fermi resonances were found for all isotopologues. Rovibrational infrared intensities have been obtained from dipole moment surfaces determined from the distinguishable cluster approximation. A comparison of the spectra of the CH2CNH molecule with experimental data validates our results, but also reveals new insight about the system, which shows very strong Coriolis coupling effects