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Biochemistry (Mosc) ; 89(4): 637-652, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38831501

RESUMEN

Molecular genetic analysis of tumor tissues is the most important step towards understanding the mechanisms of cancer development; it is also necessary for the choice of targeted therapy. The Hi-C (high-throughput chromatin conformation capture) technology can be used to detect various types of genomic variants, including balanced chromosomal rearrangements, such as inversions and translocations. We propose a modification of the Hi-C method for the analysis of chromatin contacts in formalin-fixed paraffin-embedded (FFPE) sections of tumor tissues. The developed protocol allows to generate high-quality Hi-C data and detect all types of chromosomal rearrangements. We have analyzed various databases to compile a comprehensive list of translocations that hold clinical importance for the targeted therapy selection. The practical value of molecular genetic testing is its ability to influence the treatment strategies and to provide prognostic insights. Detecting specific chromosomal rearrangements can guide the choice of the targeted therapies, which is a critical aspect of personalized medicine in oncology.


Asunto(s)
Formaldehído , Neoplasias , Adhesión en Parafina , Humanos , Neoplasias/genética , Neoplasias/patología , Formaldehído/química , Translocación Genética , Fijación del Tejido , Cromatina/genética , Cromatina/metabolismo , Cromatina/química
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