by Ilaria Scarpelli  , Fabienne Marcelli  , Francesca Mattioli  and Jacqueline Schoumans

Received: 01 April 2019;  Published: 09 August 2019;  doi: 10.21926/obm.genet.1903088

With the advent of next-generation sequencing (NGS), genomic profiling of tumors has been gradually introduced into the clinical setting and has become a standard in cancer care. NGS allows convenient, rapid, and inexpensive sequencing and the commercially available NGS panels enable the detection of single or global genomic alterations of germline and somatic origin. Today, genomic mutation profiling using NGS is indispensable for disease evaluation and prediction of prognosis or responsiveness to cancer therapy. [...]

by M. Robyn Andersen  , Kelsey Afdem  , Marcia Gaul  , Shelly Hager  , Erin Sweet  and Leanna J. Standish

Received: 27 February 2019;  Published: 26 July 2019;  doi: 10.21926/obm.genet.1903087

Patients’ lay theories about the cause of their cancer may influence patient behavior and adjustment, they have also been found to differ substantially from scientific evidence of cancer risk factors. This report describes beliefs about genetic causes of breast cancer, among 522 recently diagnosed breast cancer survivors participating in an observational study. Patients were asked to respond to an open-ended question about the cause of their cancer. Causes mentioned included family history, genetics, lifestyl [...]

by Melania Formisano  and Giandomenico Corrado

Received: 11 June 2019;  Published: 23 July 2019;  doi: 10.21926/obm.genet.1903086

Background: DNA typing has revolutionized not only diagnostics and forensics but also how we can analyze food. A number of techniques have been successfully applied for DNA analysis of plant-derived food. However, unlike forensics, a universally employed method has not yet emerged. Methods: A keyword-based search was performed using the ISI-Web of Science database to look for research articles on DNA testing in agri-food chain. After screening and eligibility check, a Systematic Review was compiled focusing on the [...]

by Hanane Merhmi  , Maria Zerkaoui  , Abdelhafid Natiq  , Aziza Sbiti  , Thonas Liehr  and Abdelaziz Sefiani

Received: 25 July 2018;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903085

Background: A report of two new Moroccan cases with polymalformative syndrome, in which we identified similar but not identical sSMCs derived from chromosome 14. Methods: Conventional karyotype and MULTI-FISH. Results: +del(14)(q21.1) in the first case and +del(14)(q21.2) in the second. Conclusions: Constitutional partial trisomy 14 has an expanded clinical spectrum as one case from the literature was associated with gonadal tumor development. Similar cases, including the ones reported here, need to be carefully fo [...]

by Georgia Kakourou  , Thalia Mamas  , Christina Vrettou  and Jan Traeger-Synodinos

Received: 03 June 2019;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903084

Preimplantation Genetic Testing for HLA-matching (PGT-HLA) has been one of the most controversial PGT applications, first reported in 2001. The procedure aims to identify an embryo that is not only healthy but also HLA-matched with a sibling in the family in need of haematopoietic stem cell transplantation (HSCT), considering that sibling HSCT stands the highest chance of success in comparison to alternative approaches. HLA-typing can be performed with or without PGT-M for the exclusion of a single-gene disorder. T [...]

by Luis Delaye

Received: 05 May 2019;  Published: 11 July 2019;  doi: 10.21926/obm.genet.1903083

Background: Phylogenetic analysis shows that Pneumocystis have coevolved with their mammalian hosts for millions of years. As a result, infection by Pneumocystis is species specific (i.e. a given Pneumocystis species can infect only a single species of host). This specificity suggests the existence of a Red-Queen dynamic between Pneumocystis and its host. Evidence of this dynamic is provided by the molecular diversity and the elevated rate of non-synonymous versus synonymous (dN/dS) codon substitutions among Pneumo [...]

by Theresa Mayo  , Barbara Schuster  , Anna Ellmann  , Manfred Schmidt  , Rainer Fietkau  and Luitpold V. Distel

Received: 27 July 2018;  Published: 26 June 2019;  doi: 10.21926/obm.genet.1902082

Background: It is well known that radiosensitivity varies substantially from individual to individual. This may influence the tumor response and also cause side effects in normal tissues following the radiotherapy treatment for cancers. Therefore, we aimed to analyze the sensitivity of a lung cancer cohort to see whether patients display similar radiosensitivity distribution as compared to healthy individuals. Methods: Blood samples of healthy individuals (n = 244) and a small group of lung cancer patients (n= 38) [...]

by Walid AL-ACHKAR  , Manar As’sad  , Thomas Liehr  , Adnan Ikhtiar  and Abdulsamad Wafa

Received: 14 August 2018;  Published: 20 June 2019;  doi: 10.21926/obm.genet.1902081

Background: The aggressive T-cell acute lymphoblastic leukemia (T-ALL) is one of the frequently occurring malignancies of the thymocytes. T-ALL is observed in 15% and 25% of all new diagnosed ALL cases in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males than in females. In nearly half of T-ALL cases, structural and/or numerical chromosomal abnormalities are detected, which have an important prognostic significance. A well-known genetic subtype of B-ALL, high hyperdiploidy (He [...]

by Laurence Pougnet  , Gilles Nevez  and Solène Le Gal

Received: 17 December 2018;  Published: 22 May 2019;  doi: 10.21926/obm.genet.1902080

Pneumocystis pneumonia (PCP) is the most frequent AIDS-defining disease among HIV-infected individuals in developed countries, and also affects immunocompromised non-HIV patients. Experimental studies on rodent models carried out in the early eighties have shown that Pneumocystis spp. can be transmitted via the airborne route. Unfortunately, this mode of acquisition and transmission has long been overlooked by physicians because PCP in immunosuppressed patients was considered to result from reactivation of a latent [...]

by Boel De Paepe

Received: 28 February 2019;  Published: 16 May 2019;  doi: 10.21926/obm.genet.1902079

In order to successfully recover from damage, skeletal muscle tissue requires proper activation of a tightly orchestrated repair program. Non-coding RNAs actively participate in this complex process of demolition and rebuilding. In this review, the contribution of dysregulated non-coding RNA expression to disease-associated pathological changes is explored in hereditary muscular dystrophies and idiopathic inflammatory myopathies. Disturbances in spatiotemporal expression of non-coding RNAs appear to be key factors [...]