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: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^*

^*Corresponding author for this work

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

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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
Number of pages	13
Journal	Clinical Genetics
Volume	80
Issue number	3
DOIs	https://doi.org/10.1111/j.1399-0004.2011.01635.x
Publication status	Published - Sept-2011
Externally published	Yes

Keywords

Adenoma/diagnosis
Adenosine Triphosphatases/genetics
Age of Onset
Brain Neoplasms/diagnosis
Child
Colorectal Neoplasms/diagnosis
DNA Mismatch Repair
DNA Mutational Analysis
DNA Repair Enzymes/genetics
DNA-Binding Proteins/genetics
Female
Germ-Line Mutation
Glioma/diagnosis
Heterozygote
Humans
Male
Microsatellite Repeats
Mismatch Repair Endonuclease PMS2
Pedigree
Siblings
Syndrome
Young Adult

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Childhood brain tumours due to germline bi-allelic mismatch repair gene mutationsFinal publisher's version, 1.44 MBLicence: Taverne

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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.",

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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

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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.

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KW - Adenosine Triphosphatases/genetics

KW - Age of Onset

KW - Brain Neoplasms/diagnosis

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KW - Colorectal Neoplasms/diagnosis

KW - DNA Mismatch Repair

KW - DNA Mutational Analysis

KW - DNA Repair Enzymes/genetics

KW - DNA-Binding Proteins/genetics

KW - Female

KW - Germ-Line Mutation

KW - Glioma/diagnosis

KW - Heterozygote

KW - Humans

KW - Male

KW - Microsatellite Repeats

KW - Mismatch Repair Endonuclease PMS2

KW - Pedigree

KW - Siblings

KW - Syndrome

KW - Young Adult

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DO - 10.1111/j.1399-0004.2011.01635.x

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SN - 0009-9163

VL - 80

SP - 243

EP - 255

JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

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

Abstract

Keywords

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