title: Lack of evidence for frequent MED12 p.L1224F mutation in prostate tumours from Caucasian patients.
abstract: Recently mutations in the MED12 gene have been reported in 5.4% of prostate tumours from Caucasian patients analysed by exome sequencing (Barbieri CE, Baca SC, Lawrence MS, et al. Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. Nature Genet 2012; 44: 685-689). In more than 70% of prostate tumours with MED12 mutation, a recurrent p.L1224F mutation in exon 26 was found. In order to validate this MED12 p.L1224F mutation, an unselected cohort of prostate tumours from Caucasian patients was analysed by Sanger sequencing. Overall, 223 prostate tumours and three lymph node metastases were analysed. The MED12 p.L1224F mutation could not be detected in any of the cases. So far, the recently reported MED12 p.L1224F mutation could not be validated in our unselected cohort of prostate tumours. Contrary to the findings of Barbieri et al, our data indicate either that the p.L1224F mutation in the MED12 gene plays no role in prostate carcinogenesis or that this alteration is only relevant in a small subgroup of tumours.
authors: Institute of Pathology, University Hospital Erlangen, 91054, Erlangen, Germany. robert.stoehr@uk-erlangen.de
authors: Robert
authors: R
authors: Stoehr
authors: Helge
authors: H
authors: Taubert
authors: Nadine T
authors: NT
authors: Gaisa
authors: Daniela
authors: D
authors: Smeets
authors: Burkhard
authors: B
authors: Kneitz
authors: Johannes
authors: J
authors: Giedl
authors: Petra
authors: P
authors: Ruemmele
authors: Wolf F
authors: WF
authors: Wieland
authors: Tilman T
authors: TT
authors: Rau
authors: Arndt
authors: A
authors: Hartmann
mesh_terms: D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008207:Lymphatic Metastasis; D008297:Male; D056892:Mediator Complex / Q000235:genetics*; D009154:Mutation; D059645:Mutation Rate; D010641:Phenotype; D011471:Prostatic Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D044465:White People / Q000235:genetics*
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex
keywords: MED12; Sanger sequencing; microdissection; mutation analysis; prostate cancer