Dataset Information

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

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.

SUBMITTER: Robertson LB

PROVIDER: S-EPMC2922430 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature

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

Robertson Lindsay B LB Armstrong Georgina N GN Olver Bianca D BD Lloyd Amy L AL Shete Sanjay S Lau Ching C Claus Elizabeth B EB Barnholtz-Sloan Jill J Lai Rose R Il'yasova Dora D Schildkraut Joellen J Bernstein Jonine L JL Olson Sara H SH Jenkins Robert B RB Yang Ping P Rynearson Amanda Lynn AL Wrensch Margaret M McCoy Lucie L Wienkce John K JK McCarthy Bridget B Davis Faith F Vick Nicholas A NA Johansen Christoffer C Bødtcher Hanne H Sadetzki Siegal S Bruchim Revital Bar-Sade RB Yechezkel Galit Hirsh GH Andersson Ulrika U Melin Beatrice S BS Bondy Melissa L ML Houlston Richard S RS

Familial cancer 20100901 3

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 anal ...[more]

PMID: 20455025

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Dataset Information

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

Publications

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

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