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Childhood brain tumours due to germline bi‐allelic mismatch repair gene mutations
Author(s) -
Johannesma PC,
van der Klift HM,
van Grieken NCT,
Troost D,
te Riele H,
Jacobs MAJM,
Postma TJ,
Heideman DAM,
Tops CMJ,
Wijnen JT,
Menko FH
Publication year - 2011
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01635.x
Subject(s) - pms2 , msh6 , msh2 , germline mutation , germline , mlh1 , lynch syndrome , allele , genetics , dna mismatch repair , biology , cancer research , mutation , gene , dna repair
Johannesma PC, van der Klift HM, van Grieken NCT, Troost D, te Riele H, Jacobs MAJM, Postma TJ, Heideman DAM, Tops CMJ, Wijnen JT, Menko FH. Childhood brain tumours due to germline bi‐allelic mismatch repair gene mutations. 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.