Survey of familial glioma and role of germline p16INK4A/p14 ARF and p53 mutation

Lindsay B. Robertson, Georgina N. Armstrong, Bianca D. Olver, Amy L. Lloyd, Sanjay Shete, Ching Lau, Elizabeth B. Claus, Jill Barnholtz-Sloan, Rose Lai, Dora Il'yasova, Joellen Schildkraut, Jonine L. Bernstein, Sara H. Olson, Robert B. Jenkins, Ping Yang, Amanda L. Rynerason, Margaret Wrensch, Lucie McCoy, John K. Wienkce, Bridget McCarthyFaith Davis, Nicholas A. Vick, Christoffer Johansenxs, Hanne Bødtcher, Siegal Sadetzki, Revital Bar Sade Bruchim, Galit Hirsh Yechezkel, Ulrika Andersson, Beatrice S. Melin, Melissa L. Bondy, Richard S. Houlston

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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 p16INK4A/p14ARF 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 p16INK4A/p14ARF and p53 to the disease we have analyzed a series of 101 index familial cases collected through the GLIOGENE Consortium (http://braintumor. 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 p16INK4A or p14ARF. 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 p16INK4A/p14 ARF and p53 mutations contribute significantly to familial glioma.

Original languageEnglish
Pages (from-to)413-421
Number of pages9
JournalFamilial Cancer
Issue number3
StatePublished - Sep 2010
Externally publishedYes


FundersFunder number
Bobby MooreC1298/A8362
Tug McGraw Foundation
National Institutes of HealthR01 CA119215 01
National Cancer InstituteR01CA052689
American Brain Tumor Association
National Brain Tumor Society
Cancer Research UK


    • Familial glioma
    • Mutation
    • P16INK4A/p14ARF
    • P53


    Dive into the research topics of 'Survey of familial glioma and role of germline p16INK4A/p14 ARF and p53 mutation'. Together they form a unique fingerprint.

    Cite this