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Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies.
BMC Cancer
January 2025
Medical and Translational Oncology, Department of Oncology, Azienda Ospedaliera Santa Maria, Viale Tristano Di Joannuccio 1, Terni, 05100, Italy.
Prostate cancer (PCa) ranks among the most prevalent malignancies in men, with notable associations to Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch Syndrome, both linked to germline likely pathogenetic variant/pathogenetic variant (LPV/PV) in genes involved in DNA repair. Among these genes, BRCA2 in PCa patients is the most frequently altered. Despite progresses, challenges in BRCA carriers detection persist, with a quarter of PCa cases lacking family history.
View Article and Find Full Text PDFRegulatory non-coding somatic mutations as drivers of neuroblastoma.
Br J Cancer
January 2025
University of Naples Federico II, Department of Molecular Medicine and Medical Biotechnology, Naples, Italy.
Background: Emerging evidence suggests that non-coding somatic single nucleotide variants (SNVs) in cis-regulatory elements (CREs) contribute to cancer by disrupting gene expression networks. However, the role of non-coding SNVs in cancer, particularly neuroblastoma, remains largely unclear.
Methods: SNVs effect on CREs activity was evaluated by luciferase assays.
Exploring Cervical Adenocarcinoma: Epidemiological Insights, Diagnostic and Therapeutic Challenges, and Pathogenetic Mechanisms.
Cancer Med
January 2025
Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.
Background: Cervical cancer poses a significant threat to women's health and encompasses various histological types, including squamous cell carcinoma (SCC), cervical adenocarcinoma (CA), and adenosquamous carcinoma. CA, in particular, presents a formidable challenge in clinical management due to its low early detection rate, pronounced aggressiveness, high recurrence rate, and mortality, compounded by the complexities associated with late-stage treatment. There is limited understanding of the similarities and differences in the pathogenesis mechanisms between CA and SCC, such as tumor heterogeneity and the tumor immune microenvironment (TME).
View Article and Find Full Text PDFThe impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.
Expert Opin Drug Metab Toxicol
January 2025
EuroEspes Biomedical Research Center, International Center of Neuroscience and Genomic Medicine, Bergondo, Corunna, Spain.
Introduction: Genetic load influences the therapeutic response to conventional drugs in Alzheimer's disease (AD). Pharmacogenetics (PGx) is the best option to reduce drug-drug interactions and adverse drug reactions in patients undergoing polypharmacy regimens. However, there are important limitations that make it difficult to incorporate pharmacogenetics into routine clinical practice.
View Article and Find Full Text PDFAn immunosenescent CD8+ T cell subset in patients with axial Spondyloarthritis and Psoriatic Arthritis links spontaneous motility to telomere shortening and dysfunction.
Arthritis Rheumatol
January 2025
Department of Biology and Biotechnologies "Charles Darwin", Sapienza University of Rome, Rome, Italy.
Objective: A pathogenetic role of CD8+ T lymphocytes in radiographic axial spondyloarthritis (r-axSpA) and other spondyloarthritis (SpA) is sustained by genome-wide association studies (GWAS) and by the expansion of public T cell clonotypes in the target tissues. This study investigates the migration of CD8+ T cells, along with their phenotype and functions in patients with r-axSpA and psoriatic arthritis (PsA).
Methods: Peripheral blood CD8+ and CD4+ T cells were isolated from r-axSpA (n= 128), PsA (n= 60) and rheumatoid arthritis (RA, n= 74) patients and healthy donors (HD, n= 79).
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