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Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation
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2010 (Engelska)Ingår i: Familial Cancer, ISSN 1389-9600, E-ISSN 1573-7292, Vol. 9, nr 3, s. 413-421Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

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(INK4A)/p14(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(INK4A)/p14(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(INK4A) or p14(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(INK4A)/p14(ARF) and p53 mutations contribute significantly to familial glioma.

Ort, förlag, år, upplaga, sidor
2010. Vol. 9, nr 3, s. 413-421
Nyckelord [en]
p16INK4A/p14ARF, p53, mutation, familial glioma
Nationell ämneskategori
Cancer och onkologi
Identifikatorer
URN: urn:nbn:se:umu:diva-39280DOI: 10.1007/s10689-010-9346-5ISI: 000280922100024PubMedID: 20455025OAI: oai:DiVA.org:umu-39280DiVA, id: diva2:389995
Tillgänglig från: 2011-01-20 Skapad: 2011-01-20 Senast uppdaterad: 2018-06-08Bibliografiskt granskad

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Andersson, UlrikaMelin, Beatrice

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