Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
Clin Genet
; 80(3): 243-55, 2011 Sep.
Article
em En
| MEDLINE
| ID: mdl-21261604
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Encefálicas
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Neoplasias Colorretais
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Adenoma
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Adenosina Trifosfatases
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Mutação em Linhagem Germinativa
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Enzimas Reparadoras do DNA
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Proteínas de Ligação a DNA
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Glioma
Tipo de estudo:
Diagnostic_studies
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Guideline
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Prognostic_studies
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Screening_studies
Limite:
Adult
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Child
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article