Lack of evidence for frequentMED12p.L1224F mutation in prostate tumours from Caucasian patients


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Abstract

Recently mutations in theMED12gene 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 recurrentSPOP,FOXA1andMED12mutations in prostate cancer.Nature Genet2012; 44: 685–689). In more than 70% of prostate tumours withMED12mutation, a recurrent p.L1224F mutation in exon 26 was found. In order to validate thisMED12p.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. TheMED12p.L1224F mutation could not be detected in any of the cases. So far, the recently reportedMED12p.L1224F mutation could not be validated in our unselected cohort of prostate tumours. Contrary to the findings of Barbieriet al, our data indicate either that the p.L1224F mutation in theMED12gene plays no role in prostate carcinogenesis or that this alteration is only relevant in a small subgroup of tumours.

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