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

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MARC

Stacey, Simon N (author)

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

Article/chapterEnglish2011

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2011-09-25
Springer Science and Business Media LLC,2011
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LIBRIS-ID:oai:DiVA.org:uu-246272
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-246272URI
https://doi.org/10.1038/ng.926DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:123530967URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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).

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine hsv//eng

Added entries (persons, corporate bodies, meetings, titles ...)

Sulem, Patrick (author)
Jonasdottir, Aslaug (author)
Masson, Gisli (author)
Gudmundsson, Julius (author)
Gudbjartsson, Daniel F (author)
Magnusson, Olafur T (author)
Gudjonsson, Sigurjon A (author)
Sigurgeirsson, Bardur (author)
Thorisdottir, Kristin (author)
Ragnarsson, Rafn (author)
Benediktsdottir, Kristrun R (author)
Nexø, Bjørn A (author)
Tjønneland, Anne (author)
Overvad, Kim (author)
Rudnai, Peter (author)
Gurzau, Eugene (author)
Koppova, Kvetoslava (author)
Hemminki, Kari (author)
Corredera, Cristina (author)
Fuentelsaz, Victoria (author)
Grasa, Pilar (author)
Navarrete, Sebastian (author)
Fuertes, Fernando (author)
García-Prats, Maria D (author)
Sanambrosio, Enrique (author)
Panadero, Angeles (author)
De Juan, Ana (author)
Garcia, Almudena (author)
Rivera, Fernando (author)
Planelles, Dolores (author)
Soriano, Virtudes (author)
Requena, Celia (author)
Aben, Katja K (author)
van Rossum, Michelle M (author)
Cremers, Ruben G H M (author)
van Oort, Inge M (author)
van Spronsen, Dick-Johan (author)
Schalken, Jack A (author)
Peters, Wilbert H M (author)
Helfand, Brian T (author)
Donovan, Jenny L (author)
Hamdy, Freddie C (author)
Badescu, Daniel (author)
Codreanu, Ovidiu (author)
Jinga, Mariana (author)
Csiki, Irma E (author)
Constantinescu, Vali (author)
Badea, Paula (author)
Mates, Ioan N (author)
Dinu, Daniela E (author)
Constantin, Adrian (author)
Mates, Dana (author)
Kristjansdottir, Sjofn (author)
Agnarsson, Bjarni A (author)
Jonsson, Eirikur (author)
Barkardottir, Rosa B (author)
Einarsson, Gudmundur V (author)
Sigurdsson, Fridbjorn (author)
Moller, Pall H (author)
Stefansson, Tryggvi (author)
Valdimarsson, Trausti (author)
Johannsson, Oskar T (author)
Sigurdsson, Helgi (author)
Jonsson, Thorvaldur (author)
Jonasson, Jon G (author)
Tryggvadottir, Laufey (author)
Rice, Terri (author)
Hansen, Helen M (author)
Xiao, Yuanyuan (author)
Lachance, Daniel H (author)
O Neill, Brian Patrick (author)
Kosel, Matthew L (author)
Decker, Paul A (author)
Thorleifsson, Gudmar (author)
Johannsdottir, Hrefna (author)
Helgadottir, Hafdis T (author)
Sigurdsson, Asgeir (author)
Steinthorsdottir, Valgerdur (author)
Lindblom, AnnikaKarolinska Institutet (author)
Sandler, Robert S (author)
Keku, Temitope O (author)
Banasik, Karina (author)
Jørgensen, Torben (author)
Witte, Daniel R (author)
Hansen, Torben (author)
Pedersen, Oluf (author)
Jinga, Viorel (author)
Neal, David E (author)
Catalona, William J (author)
Wrensch, Margaret (author)
Wiencke, John (author)
Jenkins, Robert B (author)
Nagore, Eduardo (author)
Vogel, Ulla (author)
Kiemeney, Lambertus A (author)
Kumar, Rajiv (author)
Mayordomo, José I (author)
Olafsson, Jon H (author)
Kong, Augustine (author)
Thorsteinsdottir, Unnur (author)
Rafnar, Thorunn (author)
Stefansson, Kari (author)
Smedh, KennethUppsala universitet,Centrum för klinisk forskning, Västerås(Swepub:uu)kensm722 (author)
Karolinska InstitutetCentrum för klinisk forskning, Västerås (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC43:11, s. 1098-1031061-40361546-1718

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By the author/editor: Stacey, Simon N; Sulem, Patrick; Jonasdottir, Asl ...; Masson, Gisli; Gudmundsson, Jul ...; Gudbjartsson, Da ...; show more...; 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; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...

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