Article
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.
American journal of medical genetics. Part A - 1 Aug 2025
Rigotti Laura, Rebellato Stefano, Lettieri Antonella, Castiglioni Silvia, Mariani Milena, Totaro Simona, Saitta Claudia, Gervasini Cristina, Fazio Grazia, Massa Valentina, Cazzaniga Giovanni, Selicorni Angelo
Abstract excerpt
The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear. Here, we aimed to assess the prevalence of oncological events in CdLSp...
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