RESUMO
The increasing commercialization of new gene panels based on next-generation sequencing for clinical research has significantly improved our understanding of breast cancer genetics and has led to the discovery of new mutation variants. The study included 16 unselected Moroccan breast cancer patients tested with multi-gene panel (HEVA screen panel) using Illumina Miseq, followed by Sanger sequencing to validate the most relevant mutation. Mutational analysis revealed the presence of 13 mutations (11 single-nucleotide polymorphisms [SNPs] and 2 indels), and 6 of 11 identified SNPs were predicted as pathogenic. One of the 6 pathogenic mutations was c.7874G>C, a heterozygous SNP in HD-OB domain of BRCA2 gene, which led to the arginine to threonine change at codon 2625 of the protein. This work describes the first case of a patient with breast cancer harboring this pathogenic variant and analyzes its functional impact using molecular docking and molecular dynamics simulation. Further experimental investigations are needed to validate its pathogenicity and to verify its association with breast cancer.
RESUMO
Breast cancer is one of the main global priorities in terms of public health. It remains the most frequent cancer in women and is the leading cause of their death. The human microbiome plays various roles in maintaining health by ensuring a dynamic balance with the host or in the appearance of various pathologies including breast cancer. In this study, we performed an analysis of bacterial signature differences between tumor and adjacent tissues of breast cancer patients in Morocco. Using 16S rRNA gene sequencing, we observed that adjacent tissue contained a much higher percentage of the Gammaproteobacteria class (35.7%) while tumor tissue was characterized by a higher percentage of Bacilli and Actinobacteria classes, with about 18.8% and 17.2% average abundance, respectively. Analysis of tumor subtype revealed enrichment of genus Sphingomonodas in TNBC while Sphingomonodas was predominant in HER2. The LEfSe and the genus level heatmap analysis revealed a higher abundance of the Rothia genus in tumor tissues. The identified microbial communities can therefore serve as potential biomarkers for prognosis and diagnosis, while also helping to develop new strategies for the treatment of breast cancer patients.
RESUMO
Purpose: Caregivers in radiation oncology are exposed to a high risk of burnout which sometimes causes serious consequences for their health, which can in turn affect patient care. In this study, we investigated the prevalence of burnout and its psychological impact on health professionals and determined the factors that predispose to the risk of burnout. Methods and materials: A cross-sectional survey was conducted with descriptive and analytical purposes among the different teams within the oncology and radiotherapy departments in different hospitals (CHU and regional hospitals) in Morocco, through an online self-questionnaire composed of sociodemographic data, professional data, working conditions, an assessment of interfering factors, the Maslach Burnout Inventory (MBI), the Generalised Anxiety Disorder-7 (GAD-7) scale and the Patient Health Questionnaire-9 (PHQ-9) scale. Results: One hundred and eighteen caregivers participated in this evaluation. 62.7% were physicians, 75.4% worked in university hospitals and 53.4% were in radiotherapy departments. Analysis of the three dimensions of the Maslach Burnout Inventory - Human Services Survey (MBI-HSS) score found high scores in the dimensions of emotional exhaustion (81.4%) and depersonalisation (79.7%), and low scores in decreased personal accomplishment (46.6%). The evaluation of the impacts of burnout in the latter found a mean of the Patient Health Questionnaire-9 (PHQ-9) at 12.45 + 7.84 and the mean of the GAD-7 at 9.73 + 5.98. Conclusion: Our results are in line with those found in the literature, hence the need for screening and active prevention of burnout among radiation oncology caregivers.