Sökning: onr:"swepub:oai:DiVA.org:umu-39280" > Survey of familial ...
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000 | 04129naa a2200721 4500 | |
001 | oai:DiVA.org:umu-39280 | |
003 | SwePub | |
008 | 110120s2010 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-392802 URI |
024 | 7 | a https://doi.org/10.1007/s10689-010-9346-52 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Robertson, Lindsay B4 aut |
245 | 1 0 | a Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation |
264 | c 2010-05-09 | |
264 | 1 | b 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 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a 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 | |
700 | 1 | a Armstrong, Georgina N4 aut |
700 | 1 | a Olver, Bianca D4 aut |
700 | 1 | a Lloyd, Amy L4 aut |
700 | 1 | a Shete, Sanjay4 aut |
700 | 1 | a Lau, Ching4 aut |
700 | 1 | a Claus, Elizabeth B4 aut |
700 | 1 | a Barnholtz-Sloan, Jill4 aut |
700 | 1 | a Lai, Rose4 aut |
700 | 1 | a Il'yasova, Dora4 aut |
700 | 1 | a Schildkraut, Joellen4 aut |
700 | 1 | a Bernstein, Jonine L4 aut |
700 | 1 | a Olson, Sara H4 aut |
700 | 1 | a Jenkins, Robert B4 aut |
700 | 1 | a Yang, Ping4 aut |
700 | 1 | a Rynearson, Amanda Lynn4 aut |
700 | 1 | a Wrensch, Margaret4 aut |
700 | 1 | a McCoy, Lucie4 aut |
700 | 1 | a Wienkce, John K4 aut |
700 | 1 | a McCarthy, Bridget4 aut |
700 | 1 | a Davis, Faith4 aut |
700 | 1 | a Vick, Nicholas A4 aut |
700 | 1 | a Johansen, Christoffer4 aut |
700 | 1 | a Bødtcher, Hanne4 aut |
700 | 1 | a Sadetzki, Siegal4 aut |
700 | 1 | a Bruchim, Revital Bar-Sade4 aut |
700 | 1 | a Yechezkel, Galit Hirsh4 aut |
700 | 1 | a Andersson, Ulrikau Umeå universitet,Onkologi4 aut0 (Swepub:umu)ulan0002 |
700 | 1 | a Melin, Beatriceu Umeå universitet,Onkologi4 aut0 (Swepub:umu)bema0010 |
700 | 1 | a Bondy, Melissa L4 aut |
700 | 1 | a Houlston, Richard S4 aut |
710 | 2 | a Umeå universitetb Onkologi4 org |
773 | 0 | t Familial Cancerd : Springer Science and Business Media LLCg 9:3, s. 413-421q 9:3<413-421x 1389-9600x 1573-7292 |
856 | 4 | u https://europepmc.org/articles/pmc2922430?pdf=render |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-39280 |
856 | 4 8 | u https://doi.org/10.1007/s10689-010-9346-5 |
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