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Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Hum Genomics
January 2025
Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia.
Background: TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays. However, absence of comprehensive splicing assay data for TP53 confounds the classification of the subset of predicted missense and synonymous variants that are also predicted to alter splicing. Our study aimed to generate and apply splicing assay data for a prioritised group of 59 TP53 predicted missense or synonymous variants that are also predicted to affect splicing by either SpliceAI or MaxEntScan.
View Article and Find Full Text PDFDevelopment of a prognostic nomogram and risk stratification system for elderly patients with esophageal squamous cell carcinoma undergoing definitive radiotherapy: a multicenter retrospective analysis (3JECROG R-03 A).
BMC Cancer
January 2025
Department of Radiation Oncology, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital, No. 420, Fuma Road, Jinan District, Fuzhou City, Fujian Province, People's Republic of China.
Background: Our goal is to develop a nomogram model to predict overall survival (OS) for elderly esophageal squamous cell carcinoma (ESCC) patients receiving definitive radiotherapy (RT) or concurrent chemoradiotherapy (CRT), aiding clinicians in personalized treatment planning with a risk stratification system.
Methods: A retrospective study was conducted on 718 elderly ESCC patients treated with RT or CRT at 10 medical centers (3JECROG) from January 2004 to November 2016. We identified independent prognostic factors using univariate and multifactorial Cox regression to construct a nomogram model.
Parental acceptance of school-based universal depression screening for children and adolescents in primary and secondary school in China.
BMC Public Health
January 2025
Department of Maternal, Child & Adolescent Health, School of Public Health, Anhui Medical University, 81th Meishan Road, Hefei, 230032, Anhui Province, China.
Introduction: School-based universal depression screening (SBUDS) is an effective method for early identification of depression. As parents are the primary decision-makers for their children's acceptance of healthcare services, this study aims to examine rural and urban parental acceptance of SBUDS.
Methods: The study assessed parental acceptance of SBUDS for their children and its association with self-reported parental perception of depression (i.
Identification of cancer cell-intrinsic biomarkers associated with tumor progression and characterization of SFTA3 as a tumor suppressor in lung adenocarcinomas.
BMC Cancer
January 2025
Department of Immunology, Medical School of Nantong University, 19 Qixiu Road, Nantong, 226000, China.
Background: Recent advancements in contemporary therapeutic approaches have increased the survival rates of lung cancer patients; however, the long-term benefits remain constrained, underscoring the pressing need for novel biomarkers. Surfactant-associated 3 (SFTA3), a long non-coding RNA predominantly expressed in normal lung epithelial cells, plays a crucial role in lung development. Nevertheless, its function in lung adenocarcinoma (LUAD) remains inadequately understood.
View Article and Find Full Text PDFEvaluation of clinical risk stratification to determine benefit from long-term versus short-term androgen deprivation in high-risk localized prostate cancer.
Prostate Cancer Prostatic Dis
January 2025
South Australian Immunogenomics Cancer Institute, University of Adelaide, Adelaide, Australia.
Background: Patients treated with RT and long-term androgen deprivation therapy (ltADT) for high-risk localized prostate cancer (HRLPC) with 1 high-risk factor (any of Gleason ≥8, PSA > 20 ng/mL, ≥cT3; "high-risk") have better outcomes than those with 2-3 factors and/or cN1 disease ("very high risk"). We evaluated whether this risk stratification could determine benefit from ltADT versus short-term (stADT).
Methods: The Intermediate Clinical Endpoints in Cancer of the Prostate (ICECaP) repository of randomized trials was queried to identify eligible patients and trials.
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