by Mary J. Lotesto  and Stacey L. Raimondi

Received: 26 June 2020;  Published: 07 October 2020;  doi: 10.21926/obm.genet.2004117

Estrogen-based cancers affect a substantial portion of the female population in the United States. While multiple studies have examined the effect of estrogen receptor alpha (ERα/ESR1) in cancer, the effects of ERβ/ESR2 are not as well understood in tumor tissues. Furthermore, there are few studies examining the role of specific binding partners of the estrogen receptors, such as early B-cell factor 1 (EBF1). EBF1 has been shown to have a role in B cell development and differentiation and is also know [...]

by Jiankang Jin  , Shumei Song  and Jaffer A. Ajani

Received: 30 June 2020;  Published: 16 September 2020;  doi: 10.21926/obm.genet.2003116

Gastric adenocarcinoma (GAC) is among the three most common cancers in the world. The majority of GAC patients are diagnosed in an advanced stage and have a median survival of ~9 months. There are limited effective therapeutic strategies available in the clinic and currently U.S. Food and Drug Administration (FDA) approved immune therapy is programmed death-1 (PD-1) antibodies (e.g. pembrolizumab) but only a few patients seem to benefit. Transformation to cancer occurs when multiple genes and cellular pathways are [...]

by Fawzy Georges

Received: 21 April 2020;  Published: 13 August 2020;  doi: 10.21926/obm.genet.2003115

The challenges which face the world today can be summed up in a few words: An increasingly congested world with dwindling areas of viable cultivated land and accelerating climate instability. The combined effect of these realities, together with the trend of striving to extend the average human life, puts the world on the path toward future catastrophe. This situation makes it imperative to seek realistic and practical solutions, which must be able to address food shortages and climate problems in a timely manner. [...]

by Ugo Testa  , Germana Castelli  and Elvira Pelosi

Received: 27 May 2020;  Published: 06 August 2020;  doi: 10.21926/obm.genet.2003114

Cancer is characterized by sequential and progressive genetic and epigenetic alterations in key proto-oncogenes and tumor suppressor genes, which ultimately lead to tumor development. Advances in the technology of analysis of molecular mechanisms have increased the efficiency of clinical management of cancer patients. Recent years have witnessed a progressive development in technologies that enable the detection of specific molecular abnormalities associated with various types of solid tumors in body fluids, a proc [...]

by Steve Liebich

Received: 16 March 2020;  Published: 02 July 2020;  doi: 10.21926/obm.genet.2003113

Multicellularity has gained the advantage over the unicellular world by expanding the number of increasingly more complex tissues that achieve advanced and specific functions. This same event gave rise to the most evolved group of organisms, namely mammals. Even though the complexity of multicellular organisms does not necessarily provide them with excellent adaptation modes performed by unicellular and prokaryotic organisms, this complexity per se stands as one of the greatest phenomena in biology. However, there [...]

by Alvin Ho Kwan Cheung  , Nancy Bo-Yin Tsui  , William Chi Shing Cho  , Xiao-Meng Pei  , Yin-Kwan Evelyn Wong  , Hin-Fung Andy Tsang  , Gilberto Ka-Kit Leung  and Sze-Chuen Cesar Wong

Received: 02 May 2020;  Published: 28 June 2020;  doi: 10.21926/obm.genet.2002112

Background: Vestibular schwannoma is an intracranial tumor which can lead to devastating neurological deficit and is prone to recurrence after surgery. Patients with inherited neurofibromatosis type 2 (NF2) syndrome are particularly susceptible to bilateral and aggressive schwannomas. However, the genome of vestibular schwannomas is not well known. There is an imminent need of developing effective chemotherapeutic agents either as a primary treatment modality or as adjuvant therapy for these patients. Methods: Here [...]

by Joep Geraedts

Received: 02 May 2020;  Published: 23 June 2020;  doi: 10.21926/obm.genet.2002111

This article reviews the genetic testing of infertility disorders. Genetic abnormalities can lead to disturbances of sexual development and hamper reproduction by influencing gamete production and maturation, fertilization, and embryonic development. Until now, the vast majority of detectable genetic abnormalities causing infertility were chromosomal abnormalities in both males and females. However, the number of monogenetic disorders, which play a role in disturbing fertility, such as single gene defects or comple [...]

by Yi Song  , Carlos Rivera  , Jiayu Mai  , Annie Sun  and Weihan Li

Received: 23 March 2020;  Published: 22 May 2020;  doi: 10.21926/obm.genet.2002110

The majority of the secretory and transmembrane proteins are folded in the endoplasmic reticulum (ER). When unfolded proteins accumulate in the ER, a collective of signalling pathways, termed the unfolded protein response (UPR), are activated to restore the ER protein folding homeostasis. The most evolutionarily conserved branch of UPR is mediated by the kinase/endoribonuclease Ire1. Ire1 mediates a cytosolic non-conventional mRNA splicing reaction of HAC1 mRNA in yeast and XBP1 mRNA in mammalian cells. The spliced [...]

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 [...]