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Survey of familial glioma and role of germline p16 INK4A /p14 ARF and p53 mutation
There is increasing recognition of familial propensity to glioma as a distinct clinical entity beyond a few rare syndromes; however its genetic basis is poorly understood. The role of p16 ^sup ^sup INK4A^^ /p14 ^sup ^sup ARF^^ and p53 mutations in sporadic glioma provides a strong rationale for inve...
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Published in: | Familial cancer 2010-09, Vol.9 (3), p.413-421 |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format: | Article |
Language: | English |
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Online Access: | Get full text |
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Summary: | There is increasing recognition of familial propensity to glioma as a distinct clinical entity beyond a few rare syndromes; however its genetic basis is poorly understood. The role of p16 ^sup ^sup INK4A^^ /p14 ^sup ^sup ARF^^ and p53 mutations in sporadic glioma provides a strong rationale for investigating germline mutations in these genes as a cause of familial glioma. To survey the familial glioma phenotype and examine the contribution of germline mutation in p16 ^sup ^sup INK4A^^ /p14 ^sup ^sup ARF^^ and p53 to the disease we have analyzed a series of 101 index familial cases collected through the GLIOGENE Consortium (http://braintumor.epigenetic.org/). There was little evidence for within family correlations for tumour histology, suggesting generic susceptibility to glial tumors. We did not detect any functional mutations in p16 ^sup ^sup INK4A^^ or p14 ^sup ^sup ARF^^. One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome. Our findings provide no evidence that p16 ^sup ^sup INK4A^^ /p14 ^sup ^sup ARF^^ and p53 mutations contribute significantly to familial glioma.[PUBLICATION ABSTRACT] Erratum DOI: |
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ISSN: | 1389-9600 1573-7292 |
DOI: | 10.1007/s10689-010-9346-5 |