Leiden University Scholarly Publications

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Johannesma, P.C.; Klift, H.M. van der; Grieken, N.C.T. van; Troost, D.; Riele, H. te; Jacobs, M.A.J.M.; ... ; Menko, F.H. (2011)

Childhood Brain Tumours Due To Germline Bi-Allelic Mismatch Repair Gene Mutations

Article / Letter to editor
Childhood brain tumours may be due to germline bi-allelic mismatch repair 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 mismatch repair 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.
All authors
Johannesma, P.C.; Klift, H.M. van der; Grieken, N.C.T. van; Troost, D.; Riele, H. te; Jacobs, M.A.J.M.; Postma, T.J.; Heideman, D.A.M.; Tops, C.M.J.; Wijnen, J.T.; Menko, F.H.
Date
2011-01-24
DOI
doi:10.1111/j.1399-0004.2011.01635.x