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31 results on '"Einarsson, Gudmundur V."'

4. Automatic measurement of orbital volume in unilateral coronal synostosis

Author

Dahl, Vedrana Andersen, Einarsson, Gudmundur V, Darvann, Tron Andre, Hermann, Nuno Vibe, Buciek, Hanne Hove, Kakimoto, Naoya, Kreiborg, Sven, Dahl, Anders Bjorholm, Dahl, Vedrana Andersen, Einarsson, Gudmundur V, Darvann, Tron Andre, Hermann, Nuno Vibe, Buciek, Hanne Hove, Kakimoto, Naoya, Kreiborg, Sven, and Dahl, Anders Bjorholm

Abstract

Premature fusion of the coronal suture on one side of the calvaria (unilateral coronal synostosis, UCS) results in asymmetric craniofacial development and the deformation of the orbits. Often this necessitates surgery, where CT scanning is employed to obtain measures of the bony orbit. These measures are typically computed by guided procedures that require expert time. We propose a method with higher degree of automation based on finding an optimal smooth closed surface. CT scans of 17 infants with UCS are included in our experimental validation, where we compare our method to expert guided segmentations. We obtain similar measures, as well as high Dice scores, compared to the experts. The run time for the proposed approach with a prototype implementation is around 3 minutes on a standard laptop, making the method suitable for rapid evaluation of orbital volume in UCS.

Published
2016

6. Insertion of an SVA-E retrotransposon into theCASP8gene is associated with protection against prostate cancer

Author

Stacey, Simon N., primary, Kehr, Birte, additional, Gudmundsson, Julius, additional, Zink, Florian, additional, Jonasdottir, Aslaug, additional, Gudjonsson, Sigurjon A., additional, Sigurdsson, Asgeir, additional, Halldorsson, Bjarni V., additional, Agnarsson, Bjarni A., additional, Benediktsdottir, Kristrun R., additional, Aben, Katja K.H., additional, Vermeulen, Sita H., additional, Cremers, Ruben G., additional, Panadero, Angeles, additional, Helfand, Brian T., additional, Cooper, Phillip R., additional, Donovan, Jenny L., additional, Hamdy, Freddie C., additional, Jinga, Viorel, additional, Okamoto, Ichiro, additional, Jonasson, Jon G., additional, Tryggvadottir, Laufey, additional, Johannsdottir, Hrefna, additional, Kristinsdottir, Anna M., additional, Masson, Gisli, additional, Magnusson, Olafur T., additional, Iordache, Paul D., additional, Helgason, Agnar, additional, Helgason, Hannes, additional, Sulem, Patrick, additional, Gudbjartsson, Daniel F., additional, Kong, Augustine, additional, Jonsson, Eirikur, additional, Barkardottir, Rosa B., additional, Einarsson, Gudmundur V., additional, Rafnar, Thorunn, additional, Thorsteinsdottir, Unnur, additional, Mates, Ioan N., additional, Neal, David E., additional, Catalona, William J., additional, Mayordomo, José I., additional, Kiemeney, Lambertus A., additional, Thorleifsson, Gudmar, additional, and Stefansson, Kari, additional

Published
2016
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9. A common variant at 8q24.21 is associated with renal cell cancer

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Gudbjartsson, Daniel F., additional, Masson, Gisli, additional, Petursdottir, Vigdis, additional, Hardarson, Sverrir, additional, Gudjonsson, Sigurjon A., additional, Johannsdottir, Hrefna, additional, Helgadottir, Hafdis Th., additional, Stacey, Simon N., additional, Magnusson, Olafur Th., additional, Helgason, Hannes, additional, Panadero, Angeles, additional, van der Zanden, Loes F., additional, Aben, Katja K. H., additional, Vermeulen, Sita H., additional, Oosterwijk, Egbert, additional, Kong, Augustine, additional, Mayordomo, Jose I., additional, Sverrisdottir, Asgerdur, additional, Jonsson, Eirikur, additional, Gudbjartsson, Tomas, additional, Einarsson, Gudmundur V., additional, Kiemeney, Lambertus A., additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, and Stefansson, Kari, additional

Published
2013
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10. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

Author

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

Abstract

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).

Published
2011
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11. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.

Author

Gudmundsson, Julius, Sulem, Patrick, Rafnar, Thorunn, Bergthorsson, Jon T, Manolescu, Andrei, Gudbjartsson, Daniel, Agnarsson, Bjarni A, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Blondal, Thorarinn, Jakobsdottir, Margret, Stacey, Simon N, Kostic, Jelena, Kristinsson, Kari T, Birgisdottir, Birgitta, Ghosh, Shyamali, Magnusdottir, Droplaug N, Thorlacius, Steinunn, Thorleifsson, Gudmar, Zheng, S Lilly, Sun, Jielin, Chang, Bao-Li, Elmore, J Bradford, Breyer, Joan P, McReynolds, Kate M, Bradley, Kevin M, Yaspan, Brian L, Wiklund, Fredrik, Stattin, Pär, Lindström, Sara, Adami, Hans-Olov, McDonnell, Shannon K, Schaid, Daniel J, Cunningham, Julie M, Wang, Liang, Cerhan, James R, St Sauver, Jennifer L, Isaacs, Sara D, Wiley, Kathleen E, Partin, Alan W, Walsh, Patrick C, Polo, Sonia, Ruiz-Echarri, Manuel, Navarrete, Sebastian, Fuertes, Fernando, Saez, Berta, Godino, Javier, Weijerman, Philip C, Swinkels, Dorine W, Aben, Katja K, Witjes, J Alfred, Suarez, Brian K, Helfand, Brian T, Frigge, Michael L, Kristjansson, Kristleifur, Ober, Carole, Jonsson, Eirikur, Einarsson, Gudmundur V, Xu, Jianfeng, Gronberg, Henrik, Smith, Jeffrey R, Thibodeau, Stephen N, Isaacs, William B, Catalona, William J, Mayordomo, Jose I, Kiemeney, Lambertus A, Barkardottir, Rosa B, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, Stefansson, Kari, Gudmundsson, Julius, Sulem, Patrick, Rafnar, Thorunn, Bergthorsson, Jon T, Manolescu, Andrei, Gudbjartsson, Daniel, Agnarsson, Bjarni A, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Blondal, Thorarinn, Jakobsdottir, Margret, Stacey, Simon N, Kostic, Jelena, Kristinsson, Kari T, Birgisdottir, Birgitta, Ghosh, Shyamali, Magnusdottir, Droplaug N, Thorlacius, Steinunn, Thorleifsson, Gudmar, Zheng, S Lilly, Sun, Jielin, Chang, Bao-Li, Elmore, J Bradford, Breyer, Joan P, McReynolds, Kate M, Bradley, Kevin M, Yaspan, Brian L, Wiklund, Fredrik, Stattin, Pär, Lindström, Sara, Adami, Hans-Olov, McDonnell, Shannon K, Schaid, Daniel J, Cunningham, Julie M, Wang, Liang, Cerhan, James R, St Sauver, Jennifer L, Isaacs, Sara D, Wiley, Kathleen E, Partin, Alan W, Walsh, Patrick C, Polo, Sonia, Ruiz-Echarri, Manuel, Navarrete, Sebastian, Fuertes, Fernando, Saez, Berta, Godino, Javier, Weijerman, Philip C, Swinkels, Dorine W, Aben, Katja K, Witjes, J Alfred, Suarez, Brian K, Helfand, Brian T, Frigge, Michael L, Kristjansson, Kristleifur, Ober, Carole, Jonsson, Eirikur, Einarsson, Gudmundur V, Xu, Jianfeng, Gronberg, Henrik, Smith, Jeffrey R, Thibodeau, Stephen N, Isaacs, William B, Catalona, William J, Mayordomo, Jose I, Kiemeney, Lambertus A, Barkardottir, Rosa B, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, and Stefansson, Kari

Published
2008

12. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes

Author

Gudmundsson, Julius, Sulem, Patrick, Steinthorsdottir, Valgerdur, Bergthorsson, Jon T, Thorleifsson, Gudmar, Manolescu, Andrei, Rafnar, Thorunn, Gudbjartsson, Daniel, Agnarsson, Bjarni A, Baker, Adam, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Jakobsdottir, Margret, Blondal, Thorarinn, Stacey, Simon N, Helgason, Agnar, Gunnarsdottir, Steinunn, Olafsdottir, Adalheidur, Kristinsson, Kari T, Birgisdottir, Birgitta, Ghosh, Shyamali, Thorlacius, Steinunn, Magnusdottir, Dana, Stefansdottir, Gerdur, Kristjansson, Kristleifur, Bagger, Yu, Wilensky, Robert L, Reilly, Muredach P, Morris, Andrew D, Kimber, Charlotte H, Adeyemo, Adebowale, Chen, Yuanxiu, Zhou, Jie, So, Wing-Yee, Tong, Peter C Y, Ng, Maggie C Y, Hansen, Torben, Andersen, Gitte, Borch-Johnsen, Knut, Jorgensen, Torben, Tres, Alejandro, Fuertes, Fernando, Ruiz-Echarri, Manuel, Asin, Laura, Saez, Berta, van Boven, Erica, Klaver, Siem, Swinkels, Dorine W, Aben, Katja K, Graif, Theresa, Cashy, John, Suarez, Brian K, van Vierssen Trip, Onco, Frigge, Michael L, Ober, Carole, Hofker, Marten H, Wijmenga, Cisca, Christiansen, Claus, Rader, Daniel J, Palmer, Colin N A, Rotimi, Charles, Chan, Juliana C N, Pedersen, Oluf, Sigurdsson, Gunnar, Benediktsson, Rafn, Jonsson, Eirikur, Einarsson, Gudmundur V, Mayordomo, Jose I, Catalona, William J, Kiemeney, Lambertus A, Barkardottir, Rosa B, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, Stefansson, Kari, Gudmundsson, Julius, Sulem, Patrick, Steinthorsdottir, Valgerdur, Bergthorsson, Jon T, Thorleifsson, Gudmar, Manolescu, Andrei, Rafnar, Thorunn, Gudbjartsson, Daniel, Agnarsson, Bjarni A, Baker, Adam, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Jakobsdottir, Margret, Blondal, Thorarinn, Stacey, Simon N, Helgason, Agnar, Gunnarsdottir, Steinunn, Olafsdottir, Adalheidur, Kristinsson, Kari T, Birgisdottir, Birgitta, Ghosh, Shyamali, Thorlacius, Steinunn, Magnusdottir, Dana, Stefansdottir, Gerdur, Kristjansson, Kristleifur, Bagger, Yu, Wilensky, Robert L, Reilly, Muredach P, Morris, Andrew D, Kimber, Charlotte H, Adeyemo, Adebowale, Chen, Yuanxiu, Zhou, Jie, So, Wing-Yee, Tong, Peter C Y, Ng, Maggie C Y, Hansen, Torben, Andersen, Gitte, Borch-Johnsen, Knut, Jorgensen, Torben, Tres, Alejandro, Fuertes, Fernando, Ruiz-Echarri, Manuel, Asin, Laura, Saez, Berta, van Boven, Erica, Klaver, Siem, Swinkels, Dorine W, Aben, Katja K, Graif, Theresa, Cashy, John, Suarez, Brian K, van Vierssen Trip, Onco, Frigge, Michael L, Ober, Carole, Hofker, Marten H, Wijmenga, Cisca, Christiansen, Claus, Rader, Daniel J, Palmer, Colin N A, Rotimi, Charles, Chan, Juliana C N, Pedersen, Oluf, Sigurdsson, Gunnar, Benediktsson, Rafn, Jonsson, Eirikur, Einarsson, Gudmundur V, Mayordomo, Jose I, Catalona, William J, Kiemeney, Lambertus A, Barkardottir, Rosa B, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, and Stefansson, Kari

Abstract

We performed a genome-wide association scan to search for sequence variants conferring risk of prostate cancer using 1,501 Icelandic men with prostate cancer and 11,290 controls. Follow-up studies involving three additional case-control groups replicated an association of two variants on chromosome 17 with the disease. These two variants, 33 Mb apart, fall within a region previously implicated by family-based linkage studies on prostate cancer. The risks conferred by these variants are moderate individually (allele odds ratio of about 1.20), but because they are common, their joint population attributable risk is substantial. One of the variants is in TCF2 (HNF1beta), a gene known to be mutated in individuals with maturity-onset diabetes of the young type 5. Results from eight case-control groups, including one West African and one Chinese, demonstrate that this variant confers protection against type 2 diabetes.

Published
2007

13. A common variant associated with prostate cancer in European and African populations

Author

Amundadottir, Laufey T, Sulem, Patrick, Gudmundsson, Julius, Helgasson, Agnar, Baker, Adam, Agnarsson, Bjarni A, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Cazier, Jean-Baptiste, Sainz, Jesus, Jakobsdottir, Margret, Kostic, Jelena, Magnusdottir, Droplaug N, Gosh, Shyamali, Agnarsson, Kari, Birgisdottir, Birgitta, Le Roux, Louise, Olafsdottir, Adalheidur, Blondal, Thorarinn, Andresdottir, Margret, Gretarsdottir, Olafia Svandis, Bergthorsson, Jon T, Gudbjartsson, Daniel, Gylfason, Arnaldur, Thorleifsson, Gudmar, Manolescu, Andrei, Kristjansson, Kristleifur, Geirsson, Gudmundur, Isaksson, Helgi, Douglas, Julie, Johansson, Jan-Erik, Bälter, Katarina, Wiklund, Fredrik, Montie, James E, Yu, Xiaoying, Suarez, Brian K, Ober, Carole, Cooney, Kathleen A, Grönberg, Henrik, Catalona, William J, Einarsson, Gudmundur V, Barkardottir, Rosa B, Gulcher, Jeffrey R, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari, Amundadottir, Laufey T, Sulem, Patrick, Gudmundsson, Julius, Helgasson, Agnar, Baker, Adam, Agnarsson, Bjarni A, Sigurdsson, Asgeir, Benediktsdottir, Kristrun R, Cazier, Jean-Baptiste, Sainz, Jesus, Jakobsdottir, Margret, Kostic, Jelena, Magnusdottir, Droplaug N, Gosh, Shyamali, Agnarsson, Kari, Birgisdottir, Birgitta, Le Roux, Louise, Olafsdottir, Adalheidur, Blondal, Thorarinn, Andresdottir, Margret, Gretarsdottir, Olafia Svandis, Bergthorsson, Jon T, Gudbjartsson, Daniel, Gylfason, Arnaldur, Thorleifsson, Gudmar, Manolescu, Andrei, Kristjansson, Kristleifur, Geirsson, Gudmundur, Isaksson, Helgi, Douglas, Julie, Johansson, Jan-Erik, Bälter, Katarina, Wiklund, Fredrik, Montie, James E, Yu, Xiaoying, Suarez, Brian K, Ober, Carole, Cooney, Kathleen A, Grönberg, Henrik, Catalona, William J, Einarsson, Gudmundur V, Barkardottir, Rosa B, Gulcher, Jeffrey R, Kong, Augustine, Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2006
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14. A common variant associated with prostate cancer in European and African populations

Author

Amundadottir, Laufey T., Sulem, Patrick, Gudmundsson, Julius, Helgason, Agnar, Baker, Adam, Agnarsson, Bjarni A., Sigurdsson, Asgeir, Benediktsdottir, Kristrun R., Cazier, Jean-Baptiste, Sainz, Jesus, Jakobsdottir, Margret, Kostic, Jelena, Magnusdottir, Droplaug N., Ghosh, Shyamali, Agnarsson, Kari, Birgisdottir, Birgitta, Le Roux, Louise, Olafsdottir, Adalheidur, Blondal, Thorarinn, Andresdottir, Margret, Gretarsdottir, Olafia Svandis, Bergthorsson, Jon T., Gudbjartsson, Daniel, Gylfason, Arnaldur, Thorleifsson, Gudmar, Manolescu, Andrei, Kristjansson, Kristleifur, Geirsson, Gudmundur, Isaksson, Helgi, Douglas, Julie, Johansson, Jan-Erik, Bälter, Katarina, Wiklund, Fredrik, Montie, James E., Yu, Xiaoying, Suarez, Brian K., Ober, Carole, Cooney, Kathleen A., Gronberg, Henrik, Catalona, William J., Einarsson, Gudmundur V., Barkardottir, Rosa B., Gulcher, Jeffrey R., Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari, Amundadottir, Laufey T., Sulem, Patrick, Gudmundsson, Julius, Helgason, Agnar, Baker, Adam, Agnarsson, Bjarni A., Sigurdsson, Asgeir, Benediktsdottir, Kristrun R., Cazier, Jean-Baptiste, Sainz, Jesus, Jakobsdottir, Margret, Kostic, Jelena, Magnusdottir, Droplaug N., Ghosh, Shyamali, Agnarsson, Kari, Birgisdottir, Birgitta, Le Roux, Louise, Olafsdottir, Adalheidur, Blondal, Thorarinn, Andresdottir, Margret, Gretarsdottir, Olafia Svandis, Bergthorsson, Jon T., Gudbjartsson, Daniel, Gylfason, Arnaldur, Thorleifsson, Gudmar, Manolescu, Andrei, Kristjansson, Kristleifur, Geirsson, Gudmundur, Isaksson, Helgi, Douglas, Julie, Johansson, Jan-Erik, Bälter, Katarina, Wiklund, Fredrik, Montie, James E., Yu, Xiaoying, Suarez, Brian K., Ober, Carole, Cooney, Kathleen A., Gronberg, Henrik, Catalona, William J., Einarsson, Gudmundur V., Barkardottir, Rosa B., Gulcher, Jeffrey R., Kong, Augustine, Thorsteinsdottir, Unnur, and Stefansson, Kari

Abstract

With the increasing incidence of prostate cancer, identifying common genetic variants that confer risk of the disease is important. Here we report such a variant on chromosome 8q24, a region initially identified through a study of Icelandic families. Allele -8 of the microsatellite DG8S737 was associated with prostate cancer in three case-control series of European ancestry from Iceland, Sweden and the US. The estimated odds ratio (OR) of the allele is 1.62 (P = 2.7 x 10(-11)). About 19% of affected men and 13% of the general population carry at least one copy, yielding a population attributable risk (PAR) of approximately 8%. The association was also replicated in an African American case-control group with a similar OR, in which 41% of affected individuals and 30% of the population are carriers. This leads to a greater estimated PAR (16%) that may contribute to higher incidence of prostate cancer in African American men than in men of European ancestry.

Published
2006
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15. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Gudbjartsson, Daniel F, additional, Masson, Gisli, additional, Agnarsson, Bjarni A, additional, Benediktsdottir, Kristrun R, additional, Sigurdsson, Asgeir, additional, Magnusson, Olafur Th, additional, Gudjonsson, Sigurjon A, additional, Magnusdottir, Droplaug N, additional, Johannsdottir, Hrefna, additional, Helgadottir, Hafdis Th, additional, Stacey, Simon N, additional, Jonasdottir, Adalbjorg, additional, Olafsdottir, Stefania B, additional, Thorleifsson, Gudmar, additional, Jonasson, Jon G, additional, Tryggvadottir, Laufey, additional, Navarrete, Sebastian, additional, Fuertes, Fernando, additional, Helfand, Brian T, additional, Hu, Qiaoyan, additional, Csiki, Irma E, additional, Mates, Ioan N, additional, Jinga, Viorel, additional, Aben, Katja K H, additional, van Oort, Inge M, additional, Vermeulen, Sita H, additional, Donovan, Jenny L, additional, Hamdy, Freddy C, additional, Ng, Chi-Fai, additional, Chiu, Peter K F, additional, Lau, Kin-Mang, additional, Ng, Maggie C Y, additional, Gulcher, Jeffrey R, additional, Kong, Augustine, additional, Catalona, William J, additional, Mayordomo, Jose I, additional, Einarsson, Gudmundur V, additional, Barkardottir, Rosa B, additional, Jonsson, Eirikur, additional, Mates, Dana, additional, Neal, David E, additional, Kiemeney, Lambertus A, additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, and Stefansson, Kari, additional

Published
2012
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17. Genetic Correction of PSA Values Using Sequence Variants Associated with PSA Levels

Author

Gudmundsson, Julius, primary, Besenbacher, Soren, additional, Sulem, Patrick, additional, Gudbjartsson, Daniel F., additional, Olafsson, Isleifur, additional, Arinbjarnarson, Sturla, additional, Agnarsson, Bjarni A., additional, Benediktsdottir, Kristrun R., additional, Isaksson, Helgi J., additional, Kostic, Jelena P., additional, Gudjonsson, Sigurjon A., additional, Stacey, Simon N., additional, Gylfason, Arnaldur, additional, Sigurdsson, Asgeir, additional, Holm, Hilma, additional, Bjornsdottir, Unnur S., additional, Eyjolfsson, Gudmundur I., additional, Navarrete, Sebastian, additional, Fuertes, Fernando, additional, Garcia-Prats, Maria D., additional, Polo, Eduardo, additional, Checherita, Ionel A., additional, Jinga, Mariana, additional, Badea, Paula, additional, Aben, Katja K., additional, Schalken, Jack A., additional, van Oort, Inge M., additional, Sweep, Fred C., additional, Helfand, Brian T., additional, Davis, Michael, additional, Donovan, Jenny L., additional, Hamdy, Freddie C., additional, Kristjansson, Kristleifur, additional, Gulcher, Jeffrey R., additional, Masson, Gisli, additional, Kong, Augustine, additional, Catalona, William J., additional, Mayordomo, Jose I., additional, Geirsson, Gudmundur, additional, Einarsson, Gudmundur V., additional, Barkardottir, Rosa B., additional, Jonsson, Eirikur, additional, Jinga, Viorel, additional, Mates, Dana, additional, Kiemeney, Lambertus A., additional, Neal, David E., additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, and Stefansson, Kari, additional

Published
2010
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18. Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Gudbjartsson, Daniel F, additional, Blondal, Thorarinn, additional, Gylfason, Arnaldur, additional, Agnarsson, Bjarni A, additional, Benediktsdottir, Kristrun R, additional, Magnusdottir, Droplaug N, additional, Orlygsdottir, Gudbjorg, additional, Jakobsdottir, Margret, additional, Stacey, Simon N, additional, Sigurdsson, Asgeir, additional, Wahlfors, Tiina, additional, Tammela, Teuvo, additional, Breyer, Joan P, additional, McReynolds, Kate M, additional, Bradley, Kevin M, additional, Saez, Berta, additional, Godino, Javier, additional, Navarrete, Sebastian, additional, Fuertes, Fernando, additional, Murillo, Laura, additional, Polo, Eduardo, additional, Aben, Katja K, additional, van Oort, Inge M, additional, Suarez, Brian K, additional, Helfand, Brian T, additional, Kan, Donghui, additional, Zanon, Carlo, additional, Frigge, Michael L, additional, Kristjansson, Kristleifur, additional, Gulcher, Jeffrey R, additional, Einarsson, Gudmundur V, additional, Jonsson, Eirikur, additional, Catalona, William J, additional, Mayordomo, Jose I, additional, Kiemeney, Lambertus A, additional, Smith, Jeffrey R, additional, Schleutker, Johanna, additional, Barkardottir, Rosa B, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, and Stefansson, Kari, additional

Published
2009
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19. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

Author

Rafnar, Thorunn, primary, Sulem, Patrick, additional, Stacey, Simon N, additional, Geller, Frank, additional, Gudmundsson, Julius, additional, Sigurdsson, Asgeir, additional, Jakobsdottir, Margret, additional, Helgadottir, Hafdis, additional, Thorlacius, Steinunn, additional, Aben, Katja K H, additional, Blöndal, Thorarinn, additional, Thorgeirsson, Thorgeir E, additional, Thorleifsson, Gudmar, additional, Kristjansson, Kristleifur, additional, Thorisdottir, Kristin, additional, Ragnarsson, Rafn, additional, Sigurgeirsson, Bardur, additional, Skuladottir, Halla, additional, Gudbjartsson, Tomas, additional, Isaksson, Helgi J, additional, Einarsson, Gudmundur V, additional, Benediktsdottir, Kristrun R, additional, Agnarsson, Bjarni A, additional, Olafsson, Karl, additional, Salvarsdottir, Anna, additional, Bjarnason, Hjordis, additional, Asgeirsdottir, Margret, additional, Kristinsson, Kari T, additional, Matthiasdottir, Sigurborg, additional, Sveinsdottir, Steinunn G, additional, Polidoro, Silvia, additional, Höiom, Veronica, additional, Botella-Estrada, Rafael, additional, Hemminki, Kari, additional, Rudnai, Peter, additional, Bishop, D Timothy, additional, Campagna, Marcello, additional, Kellen, Eliane, additional, Zeegers, Maurice P, additional, de Verdier, Petra, additional, Ferrer, Ana, additional, Isla, Dolores, additional, Vidal, Maria Jesus, additional, Andres, Raquel, additional, Saez, Berta, additional, Juberias, Pablo, additional, Banzo, Javier, additional, Navarrete, Sebastian, additional, Tres, Alejandro, additional, Kan, Donghui, additional, Lindblom, Annika, additional, Gurzau, Eugene, additional, Koppova, Kvetoslava, additional, de Vegt, Femmie, additional, Schalken, Jack A, additional, van der Heijden, Henricus F M, additional, Smit, Hans J, additional, Termeer, René A, additional, Oosterwijk, Egbert, additional, van Hooij, Onno, additional, Nagore, Eduardo, additional, Porru, Stefano, additional, Steineck, Gunnar, additional, Hansson, Johan, additional, Buntinx, Frank, additional, Catalona, William J, additional, Matullo, Giuseppe, additional, Vineis, Paolo, additional, Kiltie, Anne E, additional, Mayordomo, José I, additional, Kumar, Rajiv, additional, Kiemeney, Lambertus A, additional, Frigge, Michael L, additional, Jonsson, Thorvaldur, additional, Saemundsson, Hafsteinn, additional, Barkardottir, Rosa B, additional, Jonsson, Eirikur, additional, Jonsson, Steinn, additional, Olafsson, Jon H, additional, Gulcher, Jeffrey R, additional, Masson, Gisli, additional, Gudbjartsson, Daniel F, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2009
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21. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Rafnar, Thorunn, additional, Bergthorsson, Jon T, additional, Manolescu, Andrei, additional, Gudbjartsson, Daniel, additional, Agnarsson, Bjarni A, additional, Sigurdsson, Asgeir, additional, Benediktsdottir, Kristrun R, additional, Blondal, Thorarinn, additional, Jakobsdottir, Margret, additional, Stacey, Simon N, additional, Kostic, Jelena, additional, Kristinsson, Kari T, additional, Birgisdottir, Birgitta, additional, Ghosh, Shyamali, additional, Magnusdottir, Droplaug N, additional, Thorlacius, Steinunn, additional, Thorleifsson, Gudmar, additional, Zheng, S Lilly, additional, Sun, Jielin, additional, Chang, Bao-Li, additional, Elmore, J Bradford, additional, Breyer, Joan P, additional, McReynolds, Kate M, additional, Bradley, Kevin M, additional, Yaspan, Brian L, additional, Wiklund, Fredrik, additional, Stattin, Par, additional, Lindström, Sara, additional, Adami, Hans-Olov, additional, McDonnell, Shannon K, additional, Schaid, Daniel J, additional, Cunningham, Julie M, additional, Wang, Liang, additional, Cerhan, James R, additional, St Sauver, Jennifer L, additional, Isaacs, Sara D, additional, Wiley, Kathleen E, additional, Partin, Alan W, additional, Walsh, Patrick C, additional, Polo, Sonia, additional, Ruiz-Echarri, Manuel, additional, Navarrete, Sebastian, additional, Fuertes, Fernando, additional, Saez, Berta, additional, Godino, Javier, additional, Weijerman, Philip C, additional, Swinkels, Dorine W, additional, Aben, Katja K, additional, Witjes, J Alfred, additional, Suarez, Brian K, additional, Helfand, Brian T, additional, Frigge, Michael L, additional, Kristjansson, Kristleifur, additional, Ober, Carole, additional, Jonsson, Eirikur, additional, Einarsson, Gudmundur V, additional, Xu, Jianfeng, additional, Gronberg, Henrik, additional, Smith, Jeffrey R, additional, Thibodeau, Stephen N, additional, Isaacs, William B, additional, Catalona, William J, additional, Mayordomo, Jose I, additional, Kiemeney, Lambertus A, additional, Barkardottir, Rosa B, additional, Gulcher, Jeffrey R, additional, Thorsteinsdottir, Unnur, additional, Kong, Augustine, additional, and Stefansson, Kari, additional

Published
2008
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22. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Steinthorsdottir, Valgerdur, additional, Bergthorsson, Jon T, additional, Thorleifsson, Gudmar, additional, Manolescu, Andrei, additional, Rafnar, Thorunn, additional, Gudbjartsson, Daniel, additional, Agnarsson, Bjarni A, additional, Baker, Adam, additional, Sigurdsson, Asgeir, additional, Benediktsdottir, Kristrun R, additional, Jakobsdottir, Margret, additional, Blondal, Thorarinn, additional, Stacey, Simon N, additional, Helgason, Agnar, additional, Gunnarsdottir, Steinunn, additional, Olafsdottir, Adalheidur, additional, Kristinsson, Kari T, additional, Birgisdottir, Birgitta, additional, Ghosh, Shyamali, additional, Thorlacius, Steinunn, additional, Magnusdottir, Dana, additional, Stefansdottir, Gerdur, additional, Kristjansson, Kristleifur, additional, Bagger, Yu, additional, Wilensky, Robert L, additional, Reilly, Muredach P, additional, Morris, Andrew D, additional, Kimber, Charlotte H, additional, Adeyemo, Adebowale, additional, Chen, Yuanxiu, additional, Zhou, Jie, additional, So, Wing-Yee, additional, Tong, Peter C Y, additional, Ng, Maggie C Y, additional, Hansen, Torben, additional, Andersen, Gitte, additional, Borch-Johnsen, Knut, additional, Jorgensen, Torben, additional, Tres, Alejandro, additional, Fuertes, Fernando, additional, Ruiz-Echarri, Manuel, additional, Asin, Laura, additional, Saez, Berta, additional, van Boven, Erica, additional, Klaver, Siem, additional, Swinkels, Dorine W, additional, Aben, Katja K, additional, Graif, Theresa, additional, Cashy, John, additional, Suarez, Brian K, additional, van Vierssen Trip, Onco, additional, Frigge, Michael L, additional, Ober, Carole, additional, Hofker, Marten H, additional, Wijmenga, Cisca, additional, Christiansen, Claus, additional, Rader, Daniel J, additional, Palmer, Colin N A, additional, Rotimi, Charles, additional, Chan, Juliana C N, additional, Pedersen, Oluf, additional, Sigurdsson, Gunnar, additional, Benediktsson, Rafn, additional, Jonsson, Eirikur, additional, Einarsson, Gudmundur V, additional, Mayordomo, Jose I, additional, Catalona, William J, additional, Kiemeney, Lambertus A, additional, Barkardottir, Rosa B, additional, Gulcher, Jeffrey R, additional, Thorsteinsdottir, Unnur, additional, Kong, Augustine, additional, and Stefansson, Kari, additional

Published
2007
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23. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24

Author

Gudmundsson, Julius, primary, Sulem, Patrick, additional, Manolescu, Andrei, additional, Amundadottir, Laufey T, additional, Gudbjartsson, Daniel, additional, Helgason, Agnar, additional, Rafnar, Thorunn, additional, Bergthorsson, Jon T, additional, Agnarsson, Bjarni A, additional, Baker, Adam, additional, Sigurdsson, Asgeir, additional, Benediktsdottir, Kristrun R, additional, Jakobsdottir, Margret, additional, Xu, Jianfeng, additional, Blondal, Thorarinn, additional, Kostic, Jelena, additional, Sun, Jielin, additional, Ghosh, Shyamali, additional, Stacey, Simon N, additional, Mouy, Magali, additional, Saemundsdottir, Jona, additional, Backman, Valgerdur M, additional, Kristjansson, Kristleifur, additional, Tres, Alejandro, additional, Partin, Alan W, additional, Albers-Akkers, Marjo T, additional, Godino-Ivan Marcos, Javier, additional, Walsh, Patrick C, additional, Swinkels, Dorine W, additional, Navarrete, Sebastian, additional, Isaacs, Sarah D, additional, Aben, Katja K, additional, Graif, Theresa, additional, Cashy, John, additional, Ruiz-Echarri, Manuel, additional, Wiley, Kathleen E, additional, Suarez, Brian K, additional, Witjes, J Alfred, additional, Frigge, Mike, additional, Ober, Carole, additional, Jonsson, Eirikur, additional, Einarsson, Gudmundur V, additional, Mayordomo, Jose I, additional, Kiemeney, Lambertus A, additional, Isaacs, William B, additional, Catalona, William J, additional, Barkardottir, Rosa B, additional, Gulcher, Jeffrey R, additional, Thorsteinsdottir, Unnur, additional, Kong, Augustine, additional, and Stefansson, Kari, additional

Published
2007
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24. A common variant associated with prostate cancer in European and African populations

Author

Amundadottir, Laufey T, primary, Sulem, Patrick, additional, Gudmundsson, Julius, additional, Helgason, Agnar, additional, Baker, Adam, additional, Agnarsson, Bjarni A, additional, Sigurdsson, Asgeir, additional, Benediktsdottir, Kristrun R, additional, Cazier, Jean-Baptiste, additional, Sainz, Jesus, additional, Jakobsdottir, Margret, additional, Kostic, Jelena, additional, Magnusdottir, Droplaug N, additional, Ghosh, Shyamali, additional, Agnarsson, Kari, additional, Birgisdottir, Birgitta, additional, Le Roux, Louise, additional, Olafsdottir, Adalheidur, additional, Blondal, Thorarinn, additional, Andresdottir, Margret, additional, Gretarsdottir, Olafia Svandis, additional, Bergthorsson, Jon T, additional, Gudbjartsson, Daniel, additional, Gylfason, Arnaldur, additional, Thorleifsson, Gudmar, additional, Manolescu, Andrei, additional, Kristjansson, Kristleifur, additional, Geirsson, Gudmundur, additional, Isaksson, Helgi, additional, Douglas, Julie, additional, Johansson, Jan-Erik, additional, Bälter, Katarina, additional, Wiklund, Fredrik, additional, Montie, James E, additional, Yu, Xiaoying, additional, Suarez, Brian K, additional, Ober, Carole, additional, Cooney, Kathleen A, additional, Gronberg, Henrik, additional, Catalona, William J, additional, Einarsson, Gudmundur V, additional, Barkardottir, Rosa B, additional, Gulcher, Jeffrey R, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2006
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25. A population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas

Author

Gudbjartsson, Tómas, primary, Jónasdóttir, Thora J., additional, Thoroddsen, Ásgeir, additional, Einarsson, Gudmundur V., additional, Jónsdóttir, Gudrún M., additional, Kristjánsson, Kristleifur, additional, Hardarson, Sverrir, additional, Magnússon, Kjartan, additional, Gulcher, Jeffrey, additional, Stefánsson, Kári, additional, and Ámundadóttir, Laufey T., additional

Published
2002
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28. Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.

Author

Stacey SN, Kehr B, Gudmundsson J, Zink F, Jonasdottir A, Gudjonsson SA, Sigurdsson A, Halldorsson BV, Agnarsson BA, Benediktsdottir KR, Aben KK, Vermeulen SH, Cremers RG, Panadero A, Helfand BT, Cooper PR, Donovan JL, Hamdy FC, Jinga V, Okamoto I, Jonasson JG, Tryggvadottir L, Johannsdottir H, Kristinsdottir AM, Masson G, Magnusson OT, Iordache PD, Helgason A, Helgason H, Sulem P, Gudbjartsson DF, Kong A, Jonsson E, Barkardottir RB, Einarsson GV, Rafnar T, Thorsteinsdottir U, Mates IN, Neal DE, Catalona WJ, Mayordomo JI, Kiemeney LA, Thorleifsson G, and Stefansson K

Subjects
Adult, Aged, Aged, 80 and over, Alleles, Base Sequence, Breast Neoplasms metabolism, Breast Neoplasms pathology, Carcinoma, Basal Cell metabolism, Carcinoma, Basal Cell pathology, Caspase 8 metabolism, Female, Genome-Wide Association Study, Humans, Introns, Male, Middle Aged, Molecular Sequence Data, Odds Ratio, Polymorphism, Single Nucleotide, Prostatic Neoplasms metabolism, Prostatic Neoplasms pathology, Prostatic Neoplasms prevention & control, Protective Factors, Skin Neoplasms metabolism, Skin Neoplasms pathology, Breast Neoplasms genetics, Carcinoma, Basal Cell genetics, Caspase 8 genetics, Prostatic Neoplasms genetics, RNA Splicing, Retroelements, Skin Neoplasms genetics
Abstract

Transcriptional and splicing anomalies have been observed in intron 8 of the CASP8 gene (encoding procaspase-8) in association with cutaneous basal-cell carcinoma (BCC) and linked to a germline SNP rs700635. Here, we show that the rs700635[C] allele, which is associated with increased risk of BCC and breast cancer, is protective against prostate cancer [odds ratio (OR) = 0.91, P = 1.0 × 10(-6)]. rs700635[C] is also associated with failures to correctly splice out CASP8 intron 8 in breast and prostate tumours and in corresponding normal tissues. Investigation of rs700635[C] carriers revealed that they have a human-specific short interspersed element-variable number of tandem repeat-Alu (SINE-VNTR-Alu), subfamily-E retrotransposon (SVA-E) inserted into CASP8 intron 8. The SVA-E shows evidence of prior activity, because it has transduced some CASP8 sequences during subsequent retrotransposition events. Whole-genome sequence (WGS) data were used to tag the SVA-E with a surrogate SNP rs1035142[T] (r(2) = 0.999), which showed associations with both the splicing anomalies (P = 6.5 × 10(-32)) and with protection against prostate cancer (OR = 0.91, P = 3.8 × 10(-7))., (© The Author 2016. Published by Oxford University Press.)

Published
2016
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29. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.

Author

Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF, Magnusson OT, Gudjonsson SA, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Nexø BA, Tjønneland A, Overvad K, Rudnai P, Gurzau E, Koppova K, Hemminki K, Corredera C, Fuentelsaz V, Grasa P, Navarrete S, Fuertes F, García-Prats MD, Sanambrosio E, Panadero A, De Juan A, Garcia A, Rivera F, Planelles D, Soriano V, Requena C, Aben KK, van Rossum MM, Cremers RG, van Oort IM, van Spronsen DJ, Schalken JA, Peters WH, Helfand BT, Donovan JL, Hamdy FC, Badescu D, Codreanu O, Jinga M, Csiki IE, Constantinescu V, Badea P, Mates IN, Dinu DE, Constantin A, Mates D, Kristjansdottir S, Agnarsson BA, Jonsson E, Barkardottir RB, Einarsson GV, Sigurdsson F, Moller PH, Stefansson T, Valdimarsson T, Johannsson OT, Sigurdsson H, Jonsson T, Jonasson JG, Tryggvadottir L, Rice T, Hansen HM, Xiao Y, Lachance DH, O Neill BP, Kosel ML, Decker PA, Thorleifsson G, Johannsdottir H, Helgadottir HT, Sigurdsson A, Steinthorsdottir V, Lindblom A, Sandler RS, Keku TO, Banasik K, Jørgensen T, Witte DR, Hansen T, Pedersen O, Jinga V, Neal DE, Catalona WJ, Wrensch M, Wiencke J, Jenkins RB, Nagore E, Vogel U, Kiemeney LA, Kumar R, Mayordomo JI, Olafsson JH, Kong A, Thorsteinsdottir U, Rafnar T, and Stefansson K

Subjects
Humans, Polymorphism, Single Nucleotide, Tumor Suppressor Protein p53 genetics, Genetic Predisposition to Disease, Germ-Line Mutation, Neoplasms genetics, Tumor Suppressor Protein p53 metabolism
Abstract

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).

Published
2011
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30. [Renal cell carcinoma diagnosed at autopsy in Iceland 1971-2005].

Author

Jonsson A, Hardarson S, Petursdottir V, Palsdottir HB, Jonsson E, Einarsson GV, and Gudbjartsson T

Subjects
Aged, Autopsy, Carcinoma, Papillary epidemiology, Carcinoma, Renal Cell epidemiology, Female, Humans, Iceland epidemiology, Incidence, Incidental Findings, Kidney Neoplasms epidemiology, Male, Neoplasm Staging, Time Factors, Carcinoma, Papillary pathology, Carcinoma, Renal Cell pathology, Kidney Neoplasms pathology
Abstract

Introduction: The incidence of renal cell carcinoma (RCC) is rising in Iceland. This has been attributed to increased diagnostic activity, such as abdominal imaging of unrelated diseases, rather than changes in the behavior of the disease. The aim of this study was to compare RCCs diagnosed in living patients and at autopsy, but also to investigate the relationship between the incidence of RCC and autopsy findings., Material and Methods: RCC found incidentally in individuals at autopsy was compared to patients diagnosed alive over three decades in Iceland (1971-2005). Stage at diagnosis and tumor histology was reviewed., Results: 110 tumors were diagnosed at autopsy with a rate of 7.1/1000 autopsies. When compared to patients diagnosed alive (n = 913) the mean age at diagnosis was higher in the autopsy group (74.4 vs. 65 yrs.) while male to female ratio and laterality was similar. Tumors found at autopsy were smaller (3.7 vs. 7.3 cm), at lower stage (88% at stage I+II vs. 42%) and at lower tumor grade (85% at grade I+II vs. 56%). A difference, although smaller, is present when the autopsy detected cases are compared to only incidentally detected RCCs in living patients. Furthermore the autopsy detected tumors were more frequently of papillary cell type (21% vs. 8%). After correcting for declining autospy rate (>50%), a slight trend for a reduced rate of autopsy dectected RCC cases was seen during the last 10 years of the period but the difference was not significant., Conclusion: RCCs diagnosed at autopsy are at a lower stage and tumor grade than in patients diagnosed alive. The autopsy-rate is declining in Iceland with fewer RCCs found per autopsy. After correcting for the decline in autopsy rate, the rate of RCC detected at autopsy is relatively unchanged. The increase in incidence of RCC is therefore not explained by findings at autopsy.

Published
2008

31. [Pulmonary resections for metastatic renal cell carcinoma in Iceland].

Author

Oddsson SJ, Isaksson HJ, Jonsson E, Einarsson GV, and Gudbjartsson T

Subjects
Aged, Carcinoma, Renal Cell mortality, Carcinoma, Renal Cell pathology, Female, Humans, Iceland epidemiology, Kidney Neoplasms mortality, Kidney Neoplasms pathology, Lung Neoplasms mortality, Male, Middle Aged, Neoplasm Staging, Population Surveillance, Retrospective Studies, Time Factors, Treatment Outcome, Carcinoma, Renal Cell surgery, Kidney Neoplasms surgery, Lung Neoplasms secondary, Lung Neoplasms surgery, Nephrectomy, Pneumonectomy adverse effects
Abstract

Objective: At the time of diagnosis, approximately 20% of renal cell carcinoma (RCC) patients have pulmonary metastasis. These patients have poor survival with less than 10% of the patients being alive 5 years after diagnosis. However, recent studies have reported 30-49% 5-year survival in selected patients that underwent pulmonary resection for RCC metastases. The aim of this study was to analyse the outcome of this patient group in Iceland over a 23 year period., Materials and Methods: This is a retrospective population-based study including all patients in Iceland that underwent pulmonary resection for RCC metastasis between 1984 and 2006. Complications were tabulated and the histology of all tumors reviewed by a pathologist. The renal tumors were classified and staged according to the TNM staging system (WHO). Crude survival was calculated using 1st of March 2007 as an endpoint, with mean follow up of 82 months., Results: A total of 14 patients were identified, 10 males and 4 females with an average age of 59 years (range 45-78). One patient had pulmonary metastases at the diagnosis of RCC. In the other patients, metastasectomy was performed on average 39 months after the nephrectomy (range 1-132 months). Most of these patients (n=11) had a single metastasis, with an average size of 27 mm (range 8-50). Lobectomy was the most common procedure (n=7), wedge resection and pulmectomy were performed in three cases each, and one patient underwent both lobectomy and wedge resection. There were no major surgical complications. and all patients survived surgery. Today, four of the 14 patients (29%) are alive with 2- and 5-year survival of 64% and 29%, respectively., Conclusion: In this retrospective study, every third patient survived five years after pulmonary resection of RCC metastases. This is a favorable survival-rate when compared to patients with metastases not operated on (9.8% survival). These operations seem to be safe and complications are most often minor. It should be kept in mind, however, that a selected cohort was studied and a well defined control group was absent.

Published
2008

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