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Lack of evidence for frequent MED12 p. L1224F mutation in prostate tumours from Caucasian patients
Author(s) -
Stoehr Robert,
Taubert Helge,
Gaisa Nadine T,
Smeets Daniela,
Kneitz Burkhard,
Giedl Johannes,
Ruemmele Petra,
Wieland Wolf F,
Rau Tilman T,
Hartmann Arndt
Publication year - 2013
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.4208
Subject(s) - sanger sequencing , exome sequencing , medicine , prostate cancer , mutation , prostate , exome , chromoplexy , gene , cancer , biology , genetics , pca3
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. Copyright © 2013 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.