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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Genome Med
January 2025
Hereditary Cancer Group, Oncobell Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Av. Gran Via 199-203, L'Hospitalet del Llobregat, 08908, Spain.
Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).
View Article and Find Full Text PDFClade 2.3.4.4b but not historical clade 1 HA replicating RNA vaccine protects against bovine H5N1 challenge in mice.
Nat Commun
January 2025
Laboratory of Virology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rocky Mountain Laboratories, Hamilton, MT, USA.
The ongoing circulation of influenza A H5N1 in the United States has raised concerns of a pandemic caused by highly pathogenic avian influenza. Although the United States has stockpiled and is prepared to produce millions of vaccine doses to address an H5N1 pandemic, currently circulating H5N1 viruses contain multiple mutations within the immunodominant head domain of hemagglutinin (HA) compared to the antigens used in stockpiled vaccines. It is unclear if these stockpiled vaccines will need to be updated to match the contemporary H5N1 strains.
View Article and Find Full Text PDFPhantom evaluation of feasibility and applicability of artificial intelligence based pulmonary nodule detection in chest radiographs.
Medicine (Baltimore)
November 2024
Department of Radiology, Kantonsspital Baden, affiliated Hospital for Research and Teaching of the Faculty of Medicine of the University of Zurich, Baden, Switzerland.
The aim of our study was to evaluate the specific performance of an artificial intelligence (AI) algorithm for lung nodule detection in chest radiography for a larger number of nodules of different sizes and densities using a standardized phantom approach. A total of 450 nodules with varying density (d1 to d3) and size (3, 5, 8, 10 and 12 mm) were inserted in a Lungman phantom at various locations. Radiographic images with varying projections were acquired and processed using the AI algorithm for nodule detection.
View Article and Find Full Text PDFDual-path neural network extracts tumor microenvironment information from whole slide images to predict molecular typing and prognosis of Glioma.
Comput Methods Programs Biomed
January 2025
School of Information Science and Technology, Fudan University, Shanghai, 200433, China; Key Laboratory of Medical Imaging, Computing and Computer Assisted Intervention, Shanghai, 200433, China. Electronic address:
Background And Objective: Utilizing AI to mine tumor microenvironment information in whole slide images (WSIs) for glioma molecular subtype and prognosis prediction is significant for treatment. Existing weakly-supervised learning frameworks based on multi-instance learning have potential in WSIs analysis, but the large number of patches from WSIs challenges the effective extraction of key local patch and neighboring patch microenvironment info. Therefore, this paper aims to develop an automatic neural network that effectively extracts tumor microenvironment information from WSIs to predict molecular typing and prognosis of glioma.
View Article and Find Full Text PDFOptimizing the NGS-based discrimination of multiple lung cancers from the perspective of evolution.
NPJ Precis Oncol
January 2025
Department of Thoracic Surgery, Peking University People's Hospital, Beijing, 100044, China.
Next-generation sequencing (NGS) offers a promising approach for differentiating multiple primary lung cancers (MPLC) from intrapulmonary metastasis (IPM), though panel selection and clonal interpretation remain challenging. Whole-exome sequencing (WES) data from 80 lung cancer samples were utilized to simulate MPLC and IPM, with various sequenced panels constructed through gene subsampling. Two clonal interpretation approaches primarily applied in clinical practice, MoleA (based on shared mutation comparison) and MoleB (based on probability calculation), were subsequently evaluated.
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