Ontology highlight
ABSTRACT:
SUBMITTER: Cronin JC
PROVIDER: S-EPMC2728363 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
Cronin Julia C JC Wunderlich John J Loftus Stacie K SK Prickett Todd D TD Wei Xiaomu X Ridd Katie K Vemula Swapna S Burrell Allison S AS Agrawal Neena S NS Lin Jimmy C JC Banister Carolyn E CE Buckhaults Phillip P Rosenberg Steven A SA Bastian Boris C BC Pavan William J WJ Samuels Yardena Y
Pigment cell & melanoma research 20090429 4
Microphthalmia-associated transcription factor (MITF) is involved in melanocyte cell development, pigmentation and neoplasia. To determine whether MITF is somatically mutated in melanoma, we compared the sequence of MITF from primary and metastatic lesions to patient-matched normal DNA. In the 50 metastatic melanoma tumor lines analysed, we discovered four samples that had genomic amplifications of MITF and four that had MITF mutations in the regions encoding the transactivation, DNA binding or ...[more]