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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004129naa a2200721 4500
001oai:DiVA.org:umu-39280
003SwePub
008110120s2010 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-392802 URI
0247 a https://doi.org/10.1007/s10689-010-9346-52 DOI
040 a (SwePub)umu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Robertson, Lindsay B4 aut
2451 0a Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation
264 c 2010-05-09
264 1b Springer Science and Business Media LLC,c 2010
338 a print2 rdacarrier
500 a Erratum: Robertson, L.B., Armstrong, G.N., Olver, B.D. et al. Erratum to: Survey of familial glioma and role of germline p16 INK4A/p14 ARF and p53 mutation. Familial Cancer 9, 423–424 (2010). DOI: 10.1007/s10689-010-9353-6
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
653 a p16INK4A/p14ARF
653 a p53
653 a mutation
653 a familial glioma
7001 a Armstrong, Georgina N4 aut
7001 a Olver, Bianca D4 aut
7001 a Lloyd, Amy L4 aut
7001 a Shete, Sanjay4 aut
7001 a Lau, Ching4 aut
7001 a Claus, Elizabeth B4 aut
7001 a Barnholtz-Sloan, Jill4 aut
7001 a Lai, Rose4 aut
7001 a Il'yasova, Dora4 aut
7001 a Schildkraut, Joellen4 aut
7001 a Bernstein, Jonine L4 aut
7001 a Olson, Sara H4 aut
7001 a Jenkins, Robert B4 aut
7001 a Yang, Ping4 aut
7001 a Rynearson, Amanda Lynn4 aut
7001 a Wrensch, Margaret4 aut
7001 a McCoy, Lucie4 aut
7001 a Wienkce, John K4 aut
7001 a McCarthy, Bridget4 aut
7001 a Davis, Faith4 aut
7001 a Vick, Nicholas A4 aut
7001 a Johansen, Christoffer4 aut
7001 a Bødtcher, Hanne4 aut
7001 a Sadetzki, Siegal4 aut
7001 a Bruchim, Revital Bar-Sade4 aut
7001 a Yechezkel, Galit Hirsh4 aut
7001 a Andersson, Ulrikau Umeå universitet,Onkologi4 aut0 (Swepub:umu)ulan0002
7001 a Melin, Beatriceu Umeå universitet,Onkologi4 aut0 (Swepub:umu)bema0010
7001 a Bondy, Melissa L4 aut
7001 a Houlston, Richard S4 aut
7102 a Umeå universitetb Onkologi4 org
7730 t Familial Cancerd : Springer Science and Business Media LLCg 9:3, s. 413-421q 9:3<413-421x 1389-9600x 1573-7292
8564 u https://europepmc.org/articles/pmc2922430?pdf=render
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-39280
8564 8u https://doi.org/10.1007/s10689-010-9346-5

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