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

Publication ,  Journal Article
Robertson, LB; Armstrong, GN; Olver, BD; Lloyd, AL; Shete, S; Lau, C; Claus, EB; Barnholtz-Sloan, J; Lai, R; Il'yasova, D; Schildkraut, J ...
Published in: Fam Cancer
September 2010

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.

Duke Scholars

Published In

Fam Cancer

DOI

EISSN

1573-7292

Publication Date

September 2010

Volume

9

Issue

3

Start / End Page

413 / 421

Location

Netherlands

Related Subject Headings

  • Young Adult
  • Polymerase Chain Reaction
  • Pedigree
  • Oncology & Carcinogenesis
  • Middle Aged
  • Male
  • Humans
  • Glioma
  • Germ-Line Mutation
  • Genetic Predisposition to Disease
 

Citation

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Robertson, L. B., Armstrong, G. N., Olver, B. D., Lloyd, A. L., Shete, S., Lau, C., … Houlston, R. S. (2010). Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. Fam Cancer, 9(3), 413–421. https://doi.org/10.1007/s10689-010-9346-5
Robertson, Lindsay B., Georgina N. Armstrong, Bianca D. Olver, Amy L. Lloyd, Sanjay Shete, Ching Lau, Elizabeth B. Claus, et al. “Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation.Fam Cancer 9, no. 3 (September 2010): 413–21. https://doi.org/10.1007/s10689-010-9346-5.
Robertson LB, Armstrong GN, Olver BD, Lloyd AL, Shete S, Lau C, et al. Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. Fam Cancer. 2010 Sep;9(3):413–21.
Robertson, Lindsay B., et al. “Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation.Fam Cancer, vol. 9, no. 3, Sept. 2010, pp. 413–21. Pubmed, doi:10.1007/s10689-010-9346-5.
Robertson LB, Armstrong GN, Olver BD, Lloyd AL, Shete S, Lau C, Claus EB, Barnholtz-Sloan J, Lai R, Il’yasova D, Schildkraut J, Bernstein JL, Olson SH, Jenkins RB, Yang P, Rynearson AL, Wrensch M, McCoy L, Wienkce JK, McCarthy B, Davis F, Vick NA, Johansen C, Bødtcher H, Sadetzki S, Bruchim RB-S, Yechezkel GH, Andersson U, Melin BS, Bondy ML, Houlston RS. Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. Fam Cancer. 2010 Sep;9(3):413–421.
Journal cover image

Published In

Fam Cancer

DOI

EISSN

1573-7292

Publication Date

September 2010

Volume

9

Issue

3

Start / End Page

413 / 421

Location

Netherlands

Related Subject Headings

  • Young Adult
  • Polymerase Chain Reaction
  • Pedigree
  • Oncology & Carcinogenesis
  • Middle Aged
  • Male
  • Humans
  • Glioma
  • Germ-Line Mutation
  • Genetic Predisposition to Disease