The recent data on the phenomenon of the induced germline genomic instability at mini- and microsatellites in animals were considered. Natural hypervariability of the minisatellites and microsatellites and their abundance in eukaryotic genome provide it's utility as the useful genetic markers for evaluation of the germline mutation frequency induced by treatment with different type of genotoxic factors at the low doses. High sensitivity of assays and possibility for direct determinations of the mutations, without the necessity to use extrapolation, are ensured. Some discussion is presented on the role of non-targeted mechanisms for the radiation-prone DNA lesions in the induction of germline genomic instability and also on the involving in this process the recombination events upon meiosis or during the early development stages of embryos. It is proposed that quantitative determination of germline genomic instability rate may be used as an acceptable variant for the genetic risk assessment and as indicator of increased probability for cancer and other pathologies at the offspring born to irradiated parents.
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Sci Rep
January 2025
Department of Oncology, The First Affiliated Hospital of Yangtze University, Jingzhou, Hubei, China.
Exploring the potential of advanced artificial intelligence technology in predicting microsatellite instability (MSI) and Ki-67 expression of endometrial cancer (EC) is highly significant. This study aimed to develop a novel hybrid radiomics approach integrating multiparametric magnetic resonance imaging (MRI), deep learning, and multichannel image analysis for predicting MSI and Ki-67 status. A retrospective study included 156 EC patients who were subsequently categorized into MSI and Ki-67 groups.
View Article and Find Full Text PDFNat Commun
January 2025
Sorbonne Université, CNRS, Laboratory of Computational and Quantitative Biology, LCQB, Paris, France.
Telomere shortening ultimately causes replicative senescence. However, identifying the mechanisms driving replicative senescence in cell populations is challenging due to the heterogeneity of telomere lengths and the asynchrony of senescence onset. Here, we present a mathematical model of telomere shortening and replicative senescence in Saccharomyces cerevisiae which is quantitatively calibrated and validated using data of telomerase-deficient single cells.
View Article and Find Full Text PDFZhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
To investigate whether the immunohistochemical results of two markers PMS2 and MSH6 (2-MMR) could replace the four markers MLH1, PMS2, MSH2 and MSH6 (4-MMR) to detect mismatch repair deficient (dMMR) cancers. A retrospective analysis was conducted with summary of immunohistochemical data from 7 867 cases of gastric cancer, colorectal cancer, endometrial cancer, and other diseases in the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China, from March 2018 to March 2023. The consistency of 2-MMR and 4-MMR results was examined.
View Article and Find Full Text PDFLab Invest
January 2025
Université de Caen Normandie, INSERM U1086 ANTICIPE, Caen, France; UNICANCER, Comprehensive Cancer Center François Baclesse, Caen, France; Université de Caen Normandie, US PLATON- ORGAPRED core facility, Caen, France; Université de Caen Normandie, US PLATON, UNICANCER, Comprehensive Cancer Center François Baclesse- Biological Resource Center 'OvaRessources', Caen, France. Electronic address:
PARP inhibitors (PARPi) have been shown to improve progression-free survival, particularly in homologous recombination deficient (HRD) ovarian cancers. Identifying patients eligible to PARPi is currently based on next-generation sequencing (NGS), but the persistence of genomic scars in tumors after restoration of HR or epigenetic changes can be a limitation. Functional assays could thus be used to improve this profiling and faithfully identify HRD tumors.
View Article and Find Full Text PDFJ Stomatol Oral Maxillofac Surg
January 2025
Department of Pathology, School of Medical Sciences, Universidade Estadual de Campinas (UNICAMP), Campinas, São Paulo, Brazil. Electronic address:
Background: This review aimed to emphasize the implications of DNA content in head and neck squamous cell carcinoma (HNSCC), focusing on its predictive value, role in patient stratification, and potential as a therapeutic target for this malignancy.
Methods: A narrative review of the literature was conducted through electronic database searches.
Results: In conventional HNSCC, aneuploid tumors are associated with increased lymph node metastasis, locoregional recurrences, poor response to radiotherapy and chemotherapy, and worse prognosis.
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