Sökning: WFRF:(Hansen Karina K.) > A germline variant ...
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000 | 06732naa a2201573 4500 | |
001 | oai:DiVA.org:uu-246272 | |
003 | SwePub | |
008 | 150304s2011 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:123530967 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2462722 URI |
024 | 7 | a https://doi.org/10.1038/ng.9262 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1235309672 URI |
040 | a (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Stacey, Simon N4 aut |
245 | 1 0 | a A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. |
264 | c 2011-09-25 | |
264 | 1 | b Springer Science and Business Media LLC,c 2011 |
338 | a print2 rdacarrier | |
520 | a To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27). | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng |
700 | 1 | a Sulem, Patrick4 aut |
700 | 1 | a Jonasdottir, Aslaug4 aut |
700 | 1 | a Masson, Gisli4 aut |
700 | 1 | a Gudmundsson, Julius4 aut |
700 | 1 | a Gudbjartsson, Daniel F4 aut |
700 | 1 | a Magnusson, Olafur T4 aut |
700 | 1 | a Gudjonsson, Sigurjon A4 aut |
700 | 1 | a Sigurgeirsson, Bardur4 aut |
700 | 1 | a Thorisdottir, Kristin4 aut |
700 | 1 | a Ragnarsson, Rafn4 aut |
700 | 1 | a Benediktsdottir, Kristrun R4 aut |
700 | 1 | a Nexø, Bjørn A4 aut |
700 | 1 | a Tjønneland, Anne4 aut |
700 | 1 | a Overvad, Kim4 aut |
700 | 1 | a Rudnai, Peter4 aut |
700 | 1 | a Gurzau, Eugene4 aut |
700 | 1 | a Koppova, Kvetoslava4 aut |
700 | 1 | a Hemminki, Kari4 aut |
700 | 1 | a Corredera, Cristina4 aut |
700 | 1 | a Fuentelsaz, Victoria4 aut |
700 | 1 | a Grasa, Pilar4 aut |
700 | 1 | a Navarrete, Sebastian4 aut |
700 | 1 | a Fuertes, Fernando4 aut |
700 | 1 | a García-Prats, Maria D4 aut |
700 | 1 | a Sanambrosio, Enrique4 aut |
700 | 1 | a Panadero, Angeles4 aut |
700 | 1 | a De Juan, Ana4 aut |
700 | 1 | a Garcia, Almudena4 aut |
700 | 1 | a Rivera, Fernando4 aut |
700 | 1 | a Planelles, Dolores4 aut |
700 | 1 | a Soriano, Virtudes4 aut |
700 | 1 | a Requena, Celia4 aut |
700 | 1 | a Aben, Katja K4 aut |
700 | 1 | a van Rossum, Michelle M4 aut |
700 | 1 | a Cremers, Ruben G H M4 aut |
700 | 1 | a van Oort, Inge M4 aut |
700 | 1 | a van Spronsen, Dick-Johan4 aut |
700 | 1 | a Schalken, Jack A4 aut |
700 | 1 | a Peters, Wilbert H M4 aut |
700 | 1 | a Helfand, Brian T4 aut |
700 | 1 | a Donovan, Jenny L4 aut |
700 | 1 | a Hamdy, Freddie C4 aut |
700 | 1 | a Badescu, Daniel4 aut |
700 | 1 | a Codreanu, Ovidiu4 aut |
700 | 1 | a Jinga, Mariana4 aut |
700 | 1 | a Csiki, Irma E4 aut |
700 | 1 | a Constantinescu, Vali4 aut |
700 | 1 | a Badea, Paula4 aut |
700 | 1 | a Mates, Ioan N4 aut |
700 | 1 | a Dinu, Daniela E4 aut |
700 | 1 | a Constantin, Adrian4 aut |
700 | 1 | a Mates, Dana4 aut |
700 | 1 | a Kristjansdottir, Sjofn4 aut |
700 | 1 | a Agnarsson, Bjarni A4 aut |
700 | 1 | a Jonsson, Eirikur4 aut |
700 | 1 | a Barkardottir, Rosa B4 aut |
700 | 1 | a Einarsson, Gudmundur V4 aut |
700 | 1 | a Sigurdsson, Fridbjorn4 aut |
700 | 1 | a Moller, Pall H4 aut |
700 | 1 | a Stefansson, Tryggvi4 aut |
700 | 1 | a Valdimarsson, Trausti4 aut |
700 | 1 | a Johannsson, Oskar T4 aut |
700 | 1 | a Sigurdsson, Helgi4 aut |
700 | 1 | a Jonsson, Thorvaldur4 aut |
700 | 1 | a Jonasson, Jon G4 aut |
700 | 1 | a Tryggvadottir, Laufey4 aut |
700 | 1 | a Rice, Terri4 aut |
700 | 1 | a Hansen, Helen M4 aut |
700 | 1 | a Xiao, Yuanyuan4 aut |
700 | 1 | a Lachance, Daniel H4 aut |
700 | 1 | a O Neill, Brian Patrick4 aut |
700 | 1 | a Kosel, Matthew L4 aut |
700 | 1 | a Decker, Paul A4 aut |
700 | 1 | a Thorleifsson, Gudmar4 aut |
700 | 1 | a Johannsdottir, Hrefna4 aut |
700 | 1 | a Helgadottir, Hafdis T4 aut |
700 | 1 | a Sigurdsson, Asgeir4 aut |
700 | 1 | a Steinthorsdottir, Valgerdur4 aut |
700 | 1 | a Lindblom, Annikau Karolinska Institutet4 aut |
700 | 1 | a Sandler, Robert S4 aut |
700 | 1 | a Keku, Temitope O4 aut |
700 | 1 | a Banasik, Karina4 aut |
700 | 1 | a Jørgensen, Torben4 aut |
700 | 1 | a Witte, Daniel R4 aut |
700 | 1 | a Hansen, Torben4 aut |
700 | 1 | a Pedersen, Oluf4 aut |
700 | 1 | a Jinga, Viorel4 aut |
700 | 1 | a Neal, David E4 aut |
700 | 1 | a Catalona, William J4 aut |
700 | 1 | a Wrensch, Margaret4 aut |
700 | 1 | a Wiencke, John4 aut |
700 | 1 | a Jenkins, Robert B4 aut |
700 | 1 | a Nagore, Eduardo4 aut |
700 | 1 | a Vogel, Ulla4 aut |
700 | 1 | a Kiemeney, Lambertus A4 aut |
700 | 1 | a Kumar, Rajiv4 aut |
700 | 1 | a Mayordomo, José I4 aut |
700 | 1 | a Olafsson, Jon H4 aut |
700 | 1 | a Kong, Augustine4 aut |
700 | 1 | a Thorsteinsdottir, Unnur4 aut |
700 | 1 | a Rafnar, Thorunn4 aut |
700 | 1 | a Stefansson, Kari4 aut |
700 | 1 | a Smedh, Kennethu Uppsala universitet,Centrum för klinisk forskning, Västerås4 aut0 (Swepub:uu)kensm722 |
710 | 2 | a Karolinska Institutetb Centrum för klinisk forskning, Västerås4 org |
773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 43:11, s. 1098-103q 43:11<1098-103x 1061-4036x 1546-1718 |
856 | 4 | u https://cdr.lib.unc.edu/downloads/dr26z524d |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-246272 |
856 | 4 8 | u https://doi.org/10.1038/ng.926 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:123530967 |
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