Details

Autor(en) / Beteiligte

• 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.

Titel

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

Ist Teil von

• Familial cancer, 2010-09, Vol.9 (3), p.413-421

Ort / Verlag

Dordrecht: Springer Netherlands

Erscheinungsjahr

2010

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.