Ontology highlight
ABSTRACT:
SUBMITTER: Garcia-Linares C
PROVIDER: S-EPMC3151547 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Garcia-Linares Carles C Fernández-Rodríguez Juana J Terribas Ernest E Mercadé Jaume J Pros Eva E Benito Llúcia L Benavente Yolanda Y Capellà Gabriel G Ravella Anna A Blanco Ignacio I Kehrer-Sawatzki Hildegard H Lázaro Conxi C Serra Eduard E
Human mutation 20110101 1
Dermal neurofibromas (dNFs) are benign tumors of the peripheral nervous system typically associated with Neurofibromatosis type 1 (NF1) patients. Genes controlling the integrity of the DNA are likely to influence the number of neurofibromas developed because dNFs are caused by somatic mutational inactivation of the NF1 gene, frequently evidenced by loss of heterozygosity (LOH). We performed a comprehensive analysis of the prevalence and mechanisms of LOH in dNFs. Our study included 518 dNFs from ...[more]