Article
Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas.
PloS one - 1 Jan 2012
Hersmus Remko, Stoop Hans, van de Geijn Gert Jan, Eini Ronak, Biermann Katharina, Oosterhuis J Wolter, Dhooge Catharina, Schneider Dominik T, Meijssen Isabelle C, Dinjens Winand N M, Dubbink Hendrikus Jan, Drop Stenvert L S, Looijenga Leendert H J
Abstract excerpt
Activating c-KIT mutations (exons 11 and 17) are found in 10-40% of testicular seminomas, the majority being missense point mutations (codon 816). Malignant ovarian dysgerminomas represent ~3% of all ovarian cancers in Western countries, resembling testicular seminomas, regarding chromosomal aberrations and c-KIT mutations. DSD patients with specific Y-sequences have an increased risk for Type II Germ Cell...
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