Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.

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作者： Lara,Sanoguera-Miralles ^[1] ; Inés,Llinares-Burguet ^[1] ; Elena,Bueno-Martínez ^[1] ; Lobna,Ramadane-Morchadi ^[2] ; Cristiana,Stuani ^[3] ; Alberto,Valenzuela-Palomo ^[1] ; Alicia,García-Álvarez ^[1] ; Pedro,Pérez-Segura ^[2] ; Emanuele,Buratti ^[3] ; Miguel,de la Hoya ^[2] ; Eladio A,Velasco-Sampedro ^[1]

作者单位： Splicing and Genetic Susceptibility to Cancer, Unidad de Excelencia Instituto de Biomedicina y Genética Molecular de Valladolid (IBGM), Consejo Superior de Investigaciones Científicas - Universidad de Valladolid (CSIC-UVa), Valladolid, Spain. ^[1] Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain. ^[2] Molecular Pathology Lab. International Centre of Genetic Engineering and Biotechnology, Trieste, Italy. ^[3]

关键词 CHEK2 VUS aberrant splicing hereditary breast cancer minigenes splicing splicing enhancers splicing regulatory elements splicing silencers susceptibility genes variant classification

主题词人类(Humans);RNA剪接(RNA Splicing);外显子(Exons);选择性剪接(Alternative Splicing)

DOI 10.1002/path.6243

PMID 38332730

发布时间 2024-04-04

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