European Journal of Dermatology
MENUUnpigmented nodule with loss of BAP1 expression in a medium-sized congenital nevus Volume 25, numéro 2, April 2015
Illustrations
1 Département de biopathologie,
- DOI : 10.1684/ejd.2014.2514
- Page(s) : 201-2
- Année de parution : 2015
BRCA-1-associated protein 1 (BAP1) is a tumor suppressor gene located at chromosome position 3p21.1. It encodes a nuclear protein involved in multiple cellular activities: transcriptional regulation, chromatin modulation and DNA repair [1]. Germline mutations in BAP1 are responsible for a tumor predisposition syndrome (OMIM database #614327) [2]. Carriers are at greater risk of developing cutaneous and ocular melanomas, clear-cell renal cancer, mesothelioma and multiple basal cell carcinomas [3]. [...]