Article
BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.
Clinical genetics - 1 Jun 2024
West Elizabeth Casey, Chiappetta Marco, Mattingly Aubrey Anne, Congedo Maria Teresa, Evangelista Jessica, Campanella Annalisa, Sassorossi Carolina, Flamini Sara, Rossi Teresa, Pistoni Mariaelena, Abenavoli Ludovico, Margaritora Stefano, Lococo Filippo, Boccuto Luigi
Abstract excerpt
The BAP1 tumor suppressor gene encodes a deubiquitinase enzyme involved in several cellular activities, including DNA repair and apoptosis. Germline pathogenic variants in BAP1 have been associated with heritable conditions including BAP1 tumor predisposition syndrome 1 (BAP1-TPDS1) and a neurodevelopmental disorder known as Kury-Isidor syndrome (KURIS). Both these conditions are caused by monoallelic, dominant...
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