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

doi:https://doi.org/10.1111/j.1399-0004.2011.01635.x

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

Research output: Contribution to journal › Article › Academic › peer-review

23 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	243-255
Journal	Clinical genetics
Volume	80
Issue number	3
DOIs	https://doi.org/10.1111/j.1399-0004.2011.01635.x
Publication status	Published - 2011

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https://doi.org/10.1111/j.1399-0004.2011.01635.x

Cite this

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title = "Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations",

abstract = "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",

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

year = "2011",

doi = "https://doi.org/10.1111/j.1399-0004.2011.01635.x",

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T1 - Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations

AU - Johannesma, P. C.

AU - van der Klift, H. M.

AU - van Grieken, N. C. T.

AU - Troost, D.

AU - te Riele, H.

AU - Jacobs, M. A. J. M.

AU - Postma, T. J.

AU - Heideman, D. A. M.

AU - Tops, C. M. J.

AU - Wijnen, J. T.

AU - Menko, F. H.

PY - 2011

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AB - 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

U2 - https://doi.org/10.1111/j.1399-0004.2011.01635.x

DO - https://doi.org/10.1111/j.1399-0004.2011.01635.x

M3 - Article

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SN - 0009-9163

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SP - 243

EP - 255

JO - Clinical genetics

JF - Clinical genetics

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