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Background Cancer represents a global concern as the second-leading cause of mortality worldwide. It is defined as a genetic disease that develops as a result of several genetic abnormalities and changes to specific genes. Thus, early preventive measures and clinical interventions can be implemented with impressive results using genetic testing and screening for hereditary susceptibility. Objectives The present study assessed the knowledge of cancer genetics and of the importance of genetic testing among the general population in Saudi Arabia's Makkah Province. Methods A descriptive cross-sectional study was conducted among the general population in Makkah Province. The data were collected through an online questionnaire from November 2022 through December 2022. Results The study recruited 1,329 participants, the largest group of whom were 21-30 years old (n=524, 39.4%). About 60.1% of the respondents were female. The findings reveal that 52.52% of the respondents had poor knowledge, while only 4.82% exhibited good knowledge. Conclusion Approximately half the total participants possessed an inadequate understanding of cancer genetics and the importance of genetic testing. This indicates the need for awareness campaigns and programs to improve the general population's understanding of the genetic predisposition to cancer.
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http://dx.doi.org/10.7759/cureus.43016 | DOI Listing |
J Neural Transm (Vienna)
September 2025
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, 40139, Italy.
Multisystem proteinopathy 1 (MSP1) is a rare autosomal dominant disorder caused by mutations in the valosin-containing protein (VCP) gene typically presenting with inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). Parkinsonism is a rare feature of MSP1, occurring in 3-4% of cases, with limited post-mortem evidence suggesting neuronal synucleinopathy. We report a case of VCP-related parkinsonism providing the first in vivo demonstration of phosphorylated alpha-synuclein deposition in skin biopsy, a highly sensitive and specific in vivo biomarker of synucleinopathy.
View Article and Find Full Text PDFImmunol Res
September 2025
Department of Immunology and Allergy, Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye.
Background: Variants of uncertain significance (VUS) represent a major diagnostic challenge in the interpretation of genetic testing results, particularly in the context of inborn errors of immunity such as severe combined immunodeficiency (SCID). The inconsistency among computational prediction tools often necessitates expensive and time-consuming wet-lab analyses.
Objective: This study aimed to develop disease-specific, multi-class machine learning models using in silico scores to classify SCID-associated genetic variants and improve the interpretation of VUS.
BMJ Case Rep
September 2025
Diabetes and Endocrinology, North West Anglia NHS Foundation Trust, Peterborough, Cambridgeshire, UK
Familial hypocalciuric hypercalcaemia (FHH) is a rare disorder that represents a minute but important part of the differential diagnosis of hypercalcaemia. We describe a man in his 60s who was re-referred to endocrinology because of hypercalcaemia thought to be due to primary hyperparathyroidism (PHPT) that had not been followed up for 13 years. In his early 50s, the hypercalcaemia was accompanied by normal serum parathyroid hormone (PTH) levels, normal 24-hour urinary calcium excretion and normal bone density and kidney imaging, and no parathyroid adenoma was demonstrated on neck imaging.
View Article and Find Full Text PDFPract Neurol
September 2025
Neurology Department, Croydon University Hospital, London, England, UK
A 22-year-old woman had an 8-year history of progressive bilateral vision loss and of diabetes mellitus. Her mother had diabetes and two first cousins had severe congenital deafness. On examination, her visual acuities were 6/36 bilaterally, with absent colour vision and gross optic disc pallor.
View Article and Find Full Text PDFSci Justice
September 2025
School of Life Sciences, University of KwaZulu-Natal, Private Bag X54001, Westville, Durban 4000, South Africa. Electronic address:
A compound marker integrates two or more genetic markers into a single assay. The application of compound markers enhances the predictive accuracy of genetic testing by leveraging the strengths of different genetic variations while mitigating the limitations of individual markers. Compound markers include SNP-SNPs, SNP-STRs, DIP-SNPs, DIP-STRs, Multi-In/Dels, CpG-SNPs, CpG-STRs/CpG-In/Del, and Methylation-Microhaplotypes.
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