Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations

P. C. Johannesma, H. M. van der Klift, N. C. T. van Grieken, D. Troost, H. te Riele, M. A. J. M. Jacobs, T. J. Postma, D. A. M. Heideman, C. M. J. Tops, J. T. Wijnen, F. H. Menko

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Childhood brain tumours may be due to germline bi-allelic mismatch repair (MMR) gene mutations in MLH1, MSH2, MSH6 or PMS2. These mutations can also lead to colorectal neoplasia and haematological malignancies. Here, we review this syndrome and present siblings with early-onset rectal adenoma and papillary glioneural brain tumour, respectively, due to novel germline bi-allelic PMS2 mutations. Identification of MMR protein defects can lead to early diagnosis of this condition. In addition, assays for these defects may help to classify brain tumours for research protocols aimed at targeted therapies
Original languageEnglish
Pages (from-to)243-255
JournalClinical genetics
Issue number3
Publication statusPublished - 2011

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