by Jun Gu  , Zhenya Tang  , Hui Chen  , Steven Sfamenos  and Katherine B Geiersbach

Received: 02 March 2020;  Published: 13 May 2020;  doi: 10.21926/obm.genet.2002109

Quantitative image analysis of the status of human epidermal growth factor receptor 2 (HER2) by both immunohistochemistry staining and fluorescent in situ hybridization (FISH) is important for the treatment of breast cancer. Guidelines of the American Society for Clinical Oncology and College of American Pathologists, for HER2 FISH, have evolved over time to improve test accuracy, and efforts have been made to better address the problems with the interpretation that are encountered with borderline-positive cases. S [...]

by Lorraine Cowley  and Mari Jones

Received: 30 December 2019;  Published: 26 April 2020;  doi: 10.21926/obm.genet.2002108

This paper explores views of healthcare professionals (HCPs) in genetics and foetal medicine settings on offering pre-natal diagnosis (PND) for adult onset cancer susceptibility (AOCS) genes. Study participants came from different disciplinary backgrounds and all had considered implications of offering PND for AOCS, directly or indirectly, from professional and personal perspectives. Foetal medicine and genetics teams are accustomed to offering PND with the possibility of terminating an affected foetus on the basis [...]

by Xi Chen  and Jianhua Xuan

Received: 19 October 2019;  Published: 07 April 2020;  doi: 10.21926/obm.genet.2002107

The analysis of gene networks and signalling pathways plays a key role in understanding gene functions, i.e., their effects on the development of a particular disease. Yet, for many heterogeneous diseases, the number of known disease-associated genes is limited. Identifying disease-associated genes is still an open challenge. To understand the functions of genes associated with a disease, we develop a Metropolis-Hastings sampling based SIGnificant NETwork (MSIGNET) identification approach. MSIGNET integrates diseas [...]

by Joun Park  , Xianzun Tao  and R. Grace Zhai

Received: 13 January 2020;  Published: 20 March 2020;  doi: 10.21926/obm.genet.2001106

By adjusting gene expression in response to environmental changes, cells can optimize fitness as needed. Alternative splicing is one of the most important post-transcriptional regulation steps, broadly involved in diverse physiological and pathological conditions. Here, we present 5 cases of alternative splicing conferring increased neuroprotection through diverse mechanisms. These examples highlight the enormous power of alternative splicing in maintaining viability of neurons. From pre-mRNA secondary structure al [...]

by Mohamed Zaiou

Received: 16 March 2020;  Published: 17 March 2020;  doi: 10.21926/obm.genet.2001105

by Yuri Shavrukov

Received: 03 March 2020;  Published: 04 March 2020;  doi: 10.21926/obm.genet.2001104

by Kwang Poo Chang  , Dennis K.P. Ng  , Chia-Kwung Fan  , Ramesh B. Batchu  and Bala K. Kolli

Received: 29 December 2019;  Published: 24 February 2020;  doi: 10.21926/obm.genet.2001103

The parasitic protozoa in the genus of Leishmania have exceptionally favorable attributes for exploitation as a vehicle for safe and effective delivery of transgenically incorporated vaccines against infectious and malignant diseases. A dual suicidal mechanism was installed in Leishmania via genetic and chemical engineering in vitro for accumulation of photosensitizers, rendering them sensitive to dim light for inactivation. Leishmania so inactivated are non-viable, but immunologically competent to deliver vaccines [...]

by Joep Geraedts

Received: 13 January 2020;  Published: 14 January 2020;  doi: 10.21926/obm.genet.2001102

At the beginning of a new year it is always good to look both backwards and forwards and to highlight a few items that are relevant with respect to the long-term development of our journal. As everybody knows, the principle of open access publishing is that the authors pay fees (the article‐processing charges or APCs) to publish in the journal rather than that the readers pay subscription costs for the journal. Three years ago, OBM Genetics started as an open access journal publishing its first papers totally free [...]

by Florence Dupré  , Ciro Comparetto  and Franco Borruto

Received: 15 July 2019;  Published: 12 December 2019;  doi: 10.21926/obm.genet.1904101

Background: Clinical or medical genetics deals with the study and diagnosis of genetic diseases. It is oriented to the formulation of the clinical diagnosis of genetic diseases and genetic counseling, in order to evaluate the possible reproductive risk for the patient and his family. The geneticist is also called to play a diagnostic and preventive role for some of the most frequent diseases, such as cardiovascular disease and cancer. Methods: State-of-the-art by literature review. Results: Genetic counseling is a [...]

by Kjeld C. Engvild

Received: 17 July 2019;  Published: 03 December 2019;  doi: 10.21926/obm.genet.1904100

The Hansemann-Boveri aneuploidy theory, the Warburg aerobic glycolysis theory, and the Knudson two-hit mutation theory can be seen as different aspects of a theory where the very common chromosome missegregation damage is mitigated by several quite different mechanisms. Cancer only occurs when all of these mechanisms have been inactivated in a single cell line, typically by mutation, for example by carcinogens. There are at least 5 different repair mechanisms which implies a multiple hit factor of at least 5. The r [...]