NDLI: Survey of familial glioma and role of germline p16 INK4A /p14 ARF and p53 mutation

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Survey of familial glioma and role of germline p16 INK4A /p14 ARF and p53 mutation

Content Provider	Springer Nature Link
Author	Robertson, Lindsay B. Armstrong, Georgina N. Olver, Bianca D. Lloyd, Amy L. Shete, Sanjay Lau, Ching Claus, Elizabeth B. Barnholtz Sloan, Jill Lai, Rose Il’yasova, Dora Schildkraut, Joellen Bernstein, Jonine L. Olson, Sara H. Jenkins, Robert B. Yang, Ping Rynerason, Amanda L. Wrensch, Margaret McCoy, Lucie Wienkce, John K. McCarthy, Bridget Davis, Faith Vick, Nicholas A. Johansen, Christoffer Bødtcher, Hanne Sadetzki, Siegal Bruchim, Revital Bar Sade Yechezkel, Galit Hirsh Andersson, Ulrika Melin, Beatrice S. Bondy, Melissa L. Houlston, Richard S.
Copyright Year	2010
Abstract	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.
Starting Page	413
Ending Page	421
Page Count	9
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	9
Issue Number	3
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2010-05-09
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	p16INK4A/p14ARF p53 Mutation Familial glioma Biomedicine general Epidemiology Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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Erratum to: Survey of familial glioma and role of germline p16 INK4A/p14 ARF and p53 mutation

Erratum to: Survey of familial glioma and role of germline p16 INK4A /p14 ARF and p53 mutation

Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation

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Survey of familial glioma and role of germline p16 INK4A /p14 ARF and p53 mutation

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