A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Stacey, Simon N; Sulem, Patrick; Jonasdottir, Asl ...; Masson, Gisli; Gudmundsson, Jul ...; Gudbjartsson, Da ...; visa fler...; Magnusson, Olafu ...; Gudjonsson, Sigu ...; Sigurgeirsson, B ...; Thorisdottir, Kr ...; Ragnarsson, Rafn; Benediktsdottir, ...; Nexø, Bjørn A; Tjønneland, Anne; Overvad, Kim; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetosl ...; Hemminki, Kari; Corredera, Crist ...; Fuentelsaz, Vict ...; Grasa, Pilar; Navarrete, Sebas ...; Fuertes, Fernand ...; García-Prats, Ma ...; Sanambrosio, Enr ...; Panadero, Angele ...; De Juan, Ana; Garcia, Almudena; Rivera, Fernando; Planelles, Dolor ...; Soriano, Virtude ...; Requena, Celia; Aben, Katja K; van Rossum, Mich ...; Cremers, Ruben G ...; van Oort, Inge M; van Spronsen, Di ...; Schalken, Jack A; Peters, Wilbert ...; Helfand, Brian T; Donovan, Jenny L; Hamdy, Freddie C; Badescu, Daniel; Codreanu, Ovidiu; Jinga, Mariana; Csiki, Irma E; Constantinescu, ...; Badea, Paula; Mates, Ioan N; Dinu, Daniela E; Constantin, Adri ...; Mates, Dana; Kristjansdottir, ...; Agnarsson, Bjarn ...; Jonsson, Eirikur; Barkardottir, Ro ...; Einarsson, Gudmu ...; Sigurdsson, Frid ...; Moller, Pall H; Stefansson, Tryg ...; Valdimarsson, Tr ...; Johannsson, Oska ...; Sigurdsson, Helg ...; Jonsson, Thorval ...; Jonasson, Jon G; Tryggvadottir, L ...; Rice, Terri; Hansen, Helen M; Xiao, Yuanyuan; Lachance, Daniel ...; O Neill, Brian P ...; Kosel, Matthew L; Decker, Paul A; Thorleifsson, Gu ...; Johannsdottir, H ...; Helgadottir, Haf ...; Sigurdsson, Asge ...; Steinthorsdottir ...; Lindblom, Annika; Sandler, Robert ...; Keku, Temitope O; Banasik, Karina; Jørgensen, Torbe ...; Witte, Daniel R; Hansen, Torben; Pedersen, Oluf; Jinga, Viorel; Neal, David E; Catalona, Willia ...; Wrensch, Margare ...; Wiencke, John; Jenkins, Robert ...; Nagore, Eduardo; Vogel, Ulla; Kiemeney, Lamber ...; Kumar, Rajiv; Mayordomo, José ...; Olafsson, Jon H; Kong, Augustine; Thorsteinsdottir ...; Rafnar, Thorunn; Stefansson, Kari; Smedh, Kenneth; visa färre...

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