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Identification of a novel RSPO1-NUMT insertion in a LUAD patient cohort and the challenges and insights into NUMT detection highlighting the importance of reference genomes and population databases

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Nuclear mitochondrial DNA sequences (NUMTs) represent mitochondrial DNA fragments integrated into the nuclear genome with potential clinical significance particularly in the pathology of cancer which have be identified in recent whole-genome sequencing (WGS) studies. Combining NUMT in silico analysi...

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Main Authors: Tietzová, Ilona (Author) , Sochorova, Dana (Author) , Triska, Petr (Author) , Rancourt, Rebecca C. (Author) , Omelka, Marek (Author) , Parobkova, Eva (Author) , Allgäuer, Michael (Author) , Schneider, Marc (Author) , Senghas, Karsten (Author) , Klotz, Laura Valentina (Author) , Tesarova, Marketa (Author)
Format: Article (Journal)
Language:English
Published: October 31, 2025
In: Translational Lung Cancer Research
Year: 2025, Volume: 14, Issue: 10, Pages: 4560-4570
ISSN:2226-4477
DOI:10.21037/tlcr-2025-586
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.21037/tlcr-2025-586
Verlag, lizenzpflichtig, Volltext: https://tlcr.amegroups.org/article/view/107285
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Author Notes:Ilona Tietzova, Dana Sochorova, Petr Triska, Rebecca C. Rancourt, Marek Omelka, Eva Parobkova, Michael Allgäuer, Marc A. Schneider, Karsten Senghas, Laura V. Klotz, Marketa Tesarova
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Epigenetic inactivation of the tumor suppressor IRX1 occurs frequently in lung sdenocarcinoma and its silencing is sssociated with impaired prognosis by Küster, Miriam M. (Author) , Schneider, Marc (Author) , Richter, Antje M. (Author) , Richtmann, Sarah (Author) , Winter, Hauke (Author) , Kriegsmann, Mark (Author) , Pullamsetti, Soni S. (Author) , Stiewe, Thorsten (Author) , Savai, Rajkumar (Author) , Muley, Thomas (Author) , Dammann, Reinhard H. (Author) ,


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Prognostic relevance of regional lymph-node distribution in patients with N1-positive non-small cell lung cancer: a retrospective single-center analysis by Eichhorn, Florian (Author) , Klotz, Laura Valentina (Author) , Muley, Thomas (Author) , Kobinger, Sonja (Author) , Winter, Hauke (Author) , Eichhorn, Martin E. (Author) ,


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