Familial Cancer

, Volume 9, Issue 3, pp 413–421

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

Authors

  • Lindsay B. Robertson
    • Section of Cancer GeneticsInstitute of Cancer Research (ICR)
  • Georgina N. Armstrong
    • Department of EpidemiologyM.D. Anderson Cancer Center (MDACC), The University of Texas
  • Bianca D. Olver
    • Section of Cancer GeneticsInstitute of Cancer Research (ICR)
  • Amy L. Lloyd
    • Section of Cancer GeneticsInstitute of Cancer Research (ICR)
  • Sanjay Shete
    • Department of EpidemiologyM.D. Anderson Cancer Center (MDACC), The University of Texas
  • Ching Lau
    • Baylor College of MedicineTexas Children’s Cancer Center (TCH)
  • Elizabeth B. Claus
    • Department of Epidemiology and Public HealthYale University School of Medicine
    • Department of NeurosurgeryBrigham and Women’s Hospital Boston (BW)
  • Jill Barnholtz-Sloan
    • Case Comprehensive Cancer CenterCase Western Reserve University School of Medicine
  • Rose Lai
    • The Neurological Institute of Columbia University
  • Dora Il’yasova
    • Cancer Control and Prevention Program, Department of Community and Family MedicineDuke University Medical Center
  • Joellen Schildkraut
    • Cancer Control and Prevention Program, Department of Community and Family MedicineDuke University Medical Center
  • Jonine L. Bernstein
    • Department of Epidemiology and BiostatisticsMemorial Sloan-Kettering Cancer Centre (MSK)
  • Sara H. Olson
    • Department of Epidemiology and BiostatisticsMemorial Sloan-Kettering Cancer Centre (MSK)
  • Robert B. Jenkins
    • Mayo Comprehensive Clinic CancerMayo Clinic
  • Ping Yang
    • Mayo Comprehensive Clinic CancerMayo Clinic
  • Amanda L. Rynerason
    • Mayo Comprehensive Clinic CancerMayo Clinic
  • Margaret Wrensch
    • Department of Neurological SurgeryUniversity of California, San Francisco (UCSF)
  • Lucie McCoy
    • Department of Neurological SurgeryUniversity of California, San Francisco (UCSF)
  • John K. Wienkce
    • Department of Neurological SurgeryUniversity of California, San Francisco (UCSF)
  • Bridget McCarthy
    • Division of Epidemiology and BiostatisticsUniversity of Illinois at Chicago (UIC)
  • Faith Davis
    • Division of Epidemiology and BiostatisticsUniversity of Illinois at Chicago (UIC)
  • Nicholas A. Vick
    • Department of NeurologyNorthShore University HealthSystem
  • Christoffer Johansen
    • Institute of Cancer EpidemiologyDanish Cancer Society
  • Hanne Bødtcher
    • Institute of Cancer EpidemiologyDanish Cancer Society
  • Siegal Sadetzki
    • Cancer and Radiation Epidemiology UnitGertner Institute, Chaim Sheba Medical Center
  • Revital Bar-Sade Bruchim
    • Department of NeurosurgeryTel-Aviv Sourasky Medical Center
  • Galit Hirsh Yechezkel
    • Sackler School of MedicineTel-Aviv University
  • Ulrika Andersson
    • Department of Radiation Sciences OncologyUmeå University
  • Beatrice S. Melin
    • Department of Radiation Sciences OncologyUmeå University
  • Melissa L. Bondy
    • Department of EpidemiologyM.D. Anderson Cancer Center (MDACC), The University of Texas
    • Section of Cancer GeneticsInstitute of Cancer Research (ICR)
Article

DOI: 10.1007/s10689-010-9346-5

Cite this article as:
Robertson, L.B., Armstrong, G.N., Olver, B.D. et al. Familial Cancer (2010) 9: 413. doi:10.1007/s10689-010-9346-5

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 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.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 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/p14ARF and p53 mutations contribute significantly to familial glioma.

Keywords

p16INK4A/p14ARFp53MutationFamilial glioma

Supplementary material

Copyright information

© Springer Science+Business Media B.V. 2010