Article
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors.
Scientific reports - 20 Oct 2015
Roversi Gaia, Picinelli Chiara, Bestetti Ilaria, Crippa Milena, Perotti Daniela, Ciceri Sara, Saccheri Fabiana, Collini Paola, Poliani Pietro L, Catania Serena, Peissel Bernard, Pagni Fabio, Russo Silvia, Peterlongo Paolo, Manoukian Siranoush, Finelli Palma
Abstract excerpt
Multiple primary malignant neoplasms are rare entities in the clinical setting, but represent an important issue in the clinical management of patients since they could be expression of a genetic predisposition to malignancy. A high resolution genome wide array CGH led us to identify the first case of a de novo constitutional deletion confined to the FBXW7 gene, a well known tumor suppressor, in a patient with a...
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