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3. Determinants of satisfaction with the detection process of autism in Europe:results from the ASDEU study

Author

Guillon, Q. (Quentin), Baduel, S. (Sophie), Bejarano-Martín, Á. (Álvaro), Canal-Bedia, R. (Ricardo), Magán-Maganto, M. (María), Fernández-Álvarez, C. (Clara), Martín-Cilleros, M. V. (María Victoria), Sánchez-Gómez, M. C. (María Cruz), García-Primo, P. (Patricia), Rose-Sweeney, M. (Mary), Boilson, A. (Andrew), Linertová, R. (Renata), Roeyers, H. (Herbert), Van Der Paelt, S. (Sara), Schendel, D. (Diana), Kloster Warberg, C. (Christine), Cramer, S. (Susanne), Narzisi, A. (Antonio), Muratori, F. (Filippo), Scattoni, M. L. (María Luisa), Moilanen, I. (Irma), Yliherva, A. (Anneli), Saemundsen, E. (Evald), Jonsdottir, S. L. (Sigridur Loa), Efrim-Budisteanu, M. (Magdalena), Arghir, A. (Aurora), Papuc, S. M. (Sorina Mihaela), Vicente, A. (Astrid), Rasga, C. (Celia), Xenia Kafka, J. (Johanna), Poustka, L. (Luise), Kothgassner, O. D. (Oswald D), Kawa, R. (Rafal), Pisula, E. (Ewa), Sellers, T. (Tracey), Posada De La Paz, M. (Manuel), Rogé, B. (Bernadette), Guillon, Q. (Quentin), Baduel, S. (Sophie), Bejarano-Martín, Á. (Álvaro), Canal-Bedia, R. (Ricardo), Magán-Maganto, M. (María), Fernández-Álvarez, C. (Clara), Martín-Cilleros, M. V. (María Victoria), Sánchez-Gómez, M. C. (María Cruz), García-Primo, P. (Patricia), Rose-Sweeney, M. (Mary), Boilson, A. (Andrew), Linertová, R. (Renata), Roeyers, H. (Herbert), Van Der Paelt, S. (Sara), Schendel, D. (Diana), Kloster Warberg, C. (Christine), Cramer, S. (Susanne), Narzisi, A. (Antonio), Muratori, F. (Filippo), Scattoni, M. L. (María Luisa), Moilanen, I. (Irma), Yliherva, A. (Anneli), Saemundsen, E. (Evald), Jonsdottir, S. L. (Sigridur Loa), Efrim-Budisteanu, M. (Magdalena), Arghir, A. (Aurora), Papuc, S. M. (Sorina Mihaela), Vicente, A. (Astrid), Rasga, C. (Celia), Xenia Kafka, J. (Johanna), Poustka, L. (Luise), Kothgassner, O. D. (Oswald D), Kawa, R. (Rafal), Pisula, E. (Ewa), Sellers, T. (Tracey), Posada De La Paz, M. (Manuel), and Rogé, B. (Bernadette)

Abstract

Satisfaction with the detection process of autism and its determinants was investigated using data from the Autism Spectrum Disorder in the European Union (2015–2018) network. A total of 1342 family members, including 1278 parents, completed an online survey collecting information about their experience and satisfaction with the early detection of autism in their child. Overall, the level of satisfaction varied considerably from one respondent to another. Difficulty in finding information about detection services, lack of professional guidance and support in response to first concerns, finding a diagnostic service on one’s own, and a delay of more than 4 months between the confirmation of concerns and the first appointment with a specialist were all experiences individually associated with greater odds of being less satisfied. Using a dominance analysis approach, we further identified professional guidance and support in response to first concerns as the most important predictor of the level of satisfaction. These findings highlight the aspects of the process that need to be improved to enhance the experience of the detection process and are therefore relevant to guide health administrations toward actions to be implemented to this effect.

Published
2022

5. P.0343 Early detection, diagnosis and intervention services for children with autism spectrum disorder across europe according to the gross domestic product

Author

Bejarano-Martín, Á., primary, Canal-Bedia, R., additional, Magán-Maganto, M., additional, Fernández-Álvarez, C., additional, Martín-Cilleros, M.V., additional, Sánchez-Gómez, M.C., additional, García-Primo, P., additional, Rose-Sweeney, M., additional, Boilson, A., additional, Linertová, R., additional, Roeyers, H., additional, Van der Paelt, S., additional, Schendel, D., additional, Warberg, C., additional, Cramer, S., additional, Narzisi, A., additional, Muratori, F., additional, Scatonni, M.L., additional, Moilanen, I., additional, Yliherva, A., additional, Saemundsen, E., additional, Jónsdóttir, S.L., additional, Efrim-Budisteanu, M., additional, Arghir, A., additional, Papuc, S. Mihaela, additional, Vicente, A., additional, Rasga, C., additional, Rogé, B., additional, Guillon, Q., additional, Baduel, S., additional, Kafka, J. Xenia, additional, Kothgassner, O., additional, Poustka, L., additional, Kawa, R., additional, Pisula, E., additional, Sellers, T., additional, and de la Paz, M. Posada, additional

Published
2021
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10. Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives (Journal of Autism and Developmental Disorders, (2020), 50, 9, (3380-3394), 10.1007/s10803-019-04253-0)

Author

Bejarano-Martin, A., Canal-Bedia, R., Magan-Maganto, M., Fernandez-Alvarez, C., Martin-Cilleros, M. V., Sanchez-Gomez, M. C., Garcia-Primo, P., Rose-Sweeney, M., Boilson, A., Linertova, R., Roeyers, H., Van der Paelt, S., Schendel, D., Warberg, C., Cramer, S., Narzisi, A., Muratori, F., Scattoni, M. L., Moilanen, I., Yliherva, A., Saemundsen, E., Loa Jonsdottir, S., Efrim-Budisteanu, M., Arghir, A., Papuc, S. M., Vicente, A., Rasga, C., Roge, B., Guillon, Q., Baduel, S., Kafka, J. X., Poustka, L., Kothgassner, O. D., Kawa, R., Pisula, E., Sellers, T., and Posada de la Paz, M.

Published
2020

11. Early detection, diagnosis and intervention services for young children with autism spectrum disorder in the European Union (ASDEU):family and professional perspectives

Author

Bejarano-Martin, A. (Alvaro), Canal-Bedia, R. (Ricardo), Magan-Maganto, M. (Maria), Fernandez-Alvarez, C. (Clara), Cilleros-Martin, M. V. (Maria Victoria), Sanchez-Gomez, M. C. (Maria Cruz), Garcia-Primo, P. (Patricia), Rose-Sweeney, M. (Mary), Boilson, A. (Andrew), Linertova, R. (Renata), Roeyers, H. (Herbert), Van der Paelt, S. (Sara), Schendel, D. (Diana), Warberg, C. (Christine), Cramer, S. (Susanne), Narzisi, A. (Antonio), Muratori, F. (Filippo), Scattoni, M. L. (Maria Luisa), Moilanen, I. (Irma), Yliherva, A. (Anneli), Saemundsen, E. (Evald), Loa Jonsdottir, S. (Sigridur), Efrim-Budisteanu, M. (Magdalena), Arghir, A. (Aurora), Papuc, S. M. (Sorina Mihaela), Vicente, A. (Astrid), Rasga, C. (Celia), Roge, B. (Bernadette), Guillon, Q. (Quentin), Baduel, S. (Sophie), Kafka, J. X. (Johanna Xenia), Poustka, L. (Luise), Kothgassner, O. D. (Oswald D.), Kawa, R. (Rafal), Pisula, E. (Ewa), Sellers, T. (Tracey), Posada de la Paz, M. (Manuel), Bejarano-Martin, A. (Alvaro), Canal-Bedia, R. (Ricardo), Magan-Maganto, M. (Maria), Fernandez-Alvarez, C. (Clara), Cilleros-Martin, M. V. (Maria Victoria), Sanchez-Gomez, M. C. (Maria Cruz), Garcia-Primo, P. (Patricia), Rose-Sweeney, M. (Mary), Boilson, A. (Andrew), Linertova, R. (Renata), Roeyers, H. (Herbert), Van der Paelt, S. (Sara), Schendel, D. (Diana), Warberg, C. (Christine), Cramer, S. (Susanne), Narzisi, A. (Antonio), Muratori, F. (Filippo), Scattoni, M. L. (Maria Luisa), Moilanen, I. (Irma), Yliherva, A. (Anneli), Saemundsen, E. (Evald), Loa Jonsdottir, S. (Sigridur), Efrim-Budisteanu, M. (Magdalena), Arghir, A. (Aurora), Papuc, S. M. (Sorina Mihaela), Vicente, A. (Astrid), Rasga, C. (Celia), Roge, B. (Bernadette), Guillon, Q. (Quentin), Baduel, S. (Sophie), Kafka, J. X. (Johanna Xenia), Poustka, L. (Luise), Kothgassner, O. D. (Oswald D.), Kawa, R. (Rafal), Pisula, E. (Ewa), Sellers, T. (Tracey), and Posada de la Paz, M. (Manuel)

Abstract

Early services for ASD need to canvas the opinions of both parents and professionals. These opinions are seldom compared in the same research study. This study aims to ascertain the views of families and professionals on early detection, diagnosis and intervention services for young children with ASD. An online survey compiled and analysed data from 2032 respondents across 14 European countries (60.9% were parents; 39.1% professionals). Using an ordinal scale from 1 to 7, parents’ opinions were more negative (mean = 4.6; SD 2.2) compared to those of professionals (mean = 4.9; SD 1.5) when reporting satisfaction with services. The results suggest services should take into account child’s age, delays in accessing services, and active stakeholders’ participation when looking to improve services.

Published
2020

21. Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium.

Author

Lophatananon, A, Stewart-Brown, S, Kote-Jarai, Z, Al Olama, AA, Garcia, SB, Neal, DE, Hamdy, FC, Donovan, JL, Giles, GG, Fitzgerald, LM, Southey, MC, Pharoah, P, Pashayan, N, Gronberg, H, Wiklund, F, Aly, M, Stanford, JL, Brenner, H, Dieffenbach, AK, Arndt, V, Park, JY, Lin, H-Y, Sellers, T, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Spurdle, A, Clements, JA, APCB BioResource, PRACTICAL consortium, Easton, D, Eeles, RA, Muir, K, Lophatananon, A, Stewart-Brown, S, Kote-Jarai, Z, Al Olama, AA, Garcia, SB, Neal, DE, Hamdy, FC, Donovan, JL, Giles, GG, Fitzgerald, LM, Southey, MC, Pharoah, P, Pashayan, N, Gronberg, H, Wiklund, F, Aly, M, Stanford, JL, Brenner, H, Dieffenbach, AK, Arndt, V, Park, JY, Lin, H-Y, Sellers, T, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Spurdle, A, Clements, JA, APCB BioResource, PRACTICAL consortium, Easton, D, Eeles, RA, and Muir, K

Abstract

This corrects the article DOI: 10.1038/bjc.2017.231.

Published
2018

23. Risk of Ovarian Cancer and the NF-? B Pathway: Genetic Association with IL1A and TNFSF10

Author

Charbonneau, B., Block, M. S., Bamlet, W. R., Vierkant, R. A., Kalli, K. R., Fogarty, Z., Rider, D. N., Sellers, T. A., Tworoger, S. S., Poole, E., Risch, H. A., Salvesen, H. B., Kiemeney, L. A., Baglietto, L., Giles, G. G., Severi, G., Trabert, B., Wentzensen, N., Chenevix-Trench, G., Whittemore, A. S., Sieh, W., Chang-Claude, J., Bandera, E. V., Orlow, I., Terry, K., Goodman, M. T., Thompson, P. J., Cook, L. S., Rossing, M. A., Ness, R. B., Narod, S. A., Kupryjanczyk, J., Lu, K., Butzow, R., Dork, T., Pejovic, T., Campbell, I., Le, N. D., Bunker, C. H., Bogdanova, N., Runnebaum, I. B., Eccles, D., Paul, J., Wu, A. H., Gayther, S. A., Hogdall, E., Heitz, F., Kaye, S. B., Karlan, B. Y., Anton-Culver, H., Gronwald, J., Hogdall, C. K., Lambrechts, D., Fasching, P. A., Menon, U., Schildkraut, J., Pearce, C. L., Levine, D. A., Kjaer, S. K., Cramer, D., Flanagan, J. M., Phelan, C. M., Brown, R., Massuger, L. F. A. G., Song, H., Doherty, J. A., Krakstad, C., Liang, D., Odunsi, K., Berchuck, A., Jensen, A., Lubinski, J., Nevanlinna, H., Bean, Y. T., Lurie, G., Ziogas, A., Walsh, C., Despierre, E., Brinton, L., Hein, A., Rudolph, A., Dansonka-Mieszkowska, A., Olson, S. H., Harter, P., Tyrer, J., Vitonis, A. F., Brooks-Wilson, A., Aben, K. K., Pike, M. C., Ramus, S. J., Wik, E., Cybulski, C., Lin, J., Sucheston, L., Edwards, R., McGuire, V., Lester, J., du Bois, A., Lundvall, L., Wang-Gohrke, S., Szafron, L. M., Lambrechts, S., Yang, H., Beckmann, M. W., Pelttari, L. M., Van Altena, A. M., van den Berg, D., Halle, M. K., Gentry-Maharaj, A., Schwaab, I., Chandran, U., Menkiszak, J., Ekici, A. B., Wilkens, L. R., Leminen, A., Modugno, F., Friel, G., Rothstein, J. H., Vergote, I., Garcia-Closas, M., Hildebrandt, M. A. T., Sobiczewski, P., Kelemen, L. E., Pharoah, P. D. P., Moysich, K., Knutson, K. L., Cunningham, J. M., Fridley, B. L., and Goode, E. L.

Published
2014
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24. Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium

Author

Lophatananon, A, Stewart-Brown, S, Kote-Jarai, Z, Al Olama, AA, Garcia, SB, Neal, DE, Hamdy, FC, Donovan, JL, Giles, GG, Fitzgerald, LM, Southey, MC, Pharoah, P, Pashayan, N, Gronberg, H, Wiklund, F, Aly, M, Stanford, JL, Brenner, H, Dieffenbach, AK, Arndt, V, Park, JY, Lin, H-Y, Sellers, T, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Spurdle, A, Clements, JA, Easton, D, Eeles, RA, Muir, K, Lophatananon, A, Stewart-Brown, S, Kote-Jarai, Z, Al Olama, AA, Garcia, SB, Neal, DE, Hamdy, FC, Donovan, JL, Giles, GG, Fitzgerald, LM, Southey, MC, Pharoah, P, Pashayan, N, Gronberg, H, Wiklund, F, Aly, M, Stanford, JL, Brenner, H, Dieffenbach, AK, Arndt, V, Park, JY, Lin, H-Y, Sellers, T, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Spurdle, A, Clements, JA, Easton, D, Eeles, RA, and Muir, K

Abstract

BACKGROUND: Evidence on height and prostate cancer risk is mixed, however, recent studies with large data sets support a possible role for its association with the risk of aggressive prostate cancer. METHODS: We analysed data from the PRACTICAL consortium consisting of 6207 prostate cancer cases and 6016 controls and a subset of high grade cases (2480 cases). We explored height, polymorphisms in genes related to growth processes as main effects and their possible interactions. RESULTS: The results suggest that height is associated with high-grade prostate cancer risk. Men with height >180 cm are at a 22% increased risk as compared to men with height <173 cm (OR 1.22, 95% CI 1.01-1.48). Genetic variants in the growth pathway gene showed an association with prostate cancer risk. The aggregate scores of the selected variants identified a significantly increased risk of overall prostate cancer and high-grade prostate cancer by 13% and 15%, respectively, in the highest score group as compared to lowest score group. CONCLUSIONS: There was no evidence of gene-environment interaction between height and the selected candidate SNPs.Our findings suggest a role of height in high-grade prostate cancer. The effect of genetic variants in the genes related to growth is seen in all cases and high-grade prostate cancer. There is no interaction between these two exposures.

Published
2017

28. PALB2, CHEK2 and ATM rare variants and cancer risk:data from COGS

Author

Southey, M. C. (Melissa C.), Goldgar, D. E. (David E.), Winqvist, R. (Robert), Pylkäs, K. (Katri), Couch, F. (Fergus), Tischkowitz, M. (Marc), Foulkes, W. D. (William D.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), van Rensburg, E. J. (Elizabeth J.), Heikkinen, T. (Tuomas), Nevanlinna, H. (Heli), Hopper, J. L. (John L.), Doerk, T. (Thilo), Claes, K. B. (Kathleen B. M.), Reis-Filho, J. (Jorge), Teo, Z. L. (Zhi Ling), Radice, P. (Paolo), Catucci, I. (Irene), Peterlongo, P. (Paolo), Tsimiklis, H. (Helen), Odefrey, F. A. (Fabrice A.), Dowty, J. G. (James G.), Schmidt, M. K. (Marjanka K.), Broeks, A. (Annegien), Hogervorst, F. B. (Frans B.), Verhoef, S. (Senno), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R. J. (Rodney J.), Fasching, P. A. (Peter A.), Haeberle, L. (Lothar), Ekici, A. B. (Arif B.), Beckmann, M. W. (Matthias W.), Peto, J. (Julian), dos-Santos-Silva, I. (Isabel), Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M. K. (Manjeet K.), Sawyer, E. J. (Elinor J.), Tomlinson, I. (Ian), Kerin, M. J. (Michael J.), Miller, N. (Nicola), Marme, F. (Federik), Burwinkel, B. (Barbara), Yang, R. (Rongxi), Guenel, P. (Pascal), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S. (Stig), Nielsen, S. F. (Sune F.), Flyger, H. (Henrik), Benitez, J. (Javier), Pilar Zamora, M. (M.), Arias Perez, J. I. (Jose Ignacio), Menendez, P. (Primitiva), Anton-Culver, H. (Hoda), Neuhausen, S. (Susan), Ziogas, A. (Argyrios), Clarke, C. A. (Christina A.), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Brauch, H. (Hiltrud), Bruening, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Muranen, T. A. (Taru A.), Aittomaki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia V.), Antonenkova, N. N. (Natalia N.), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V.-M. (Veli-Matti), Hartikainen, J. M. (Jaana M.), Spurdle, A. B. (Amanda B.), Wauters, E. (Els), Smeets, D. (Dominiek), Beuselinck, B. (Benoit), Floris, G. (Giuseppe), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Olson, J. E. (Janet E.), Vachon, C. (Celine), Pankratz, V. S. (Vernon S.), McLean, C. (Catriona), Haiman, C. A. (Christopher A.), Henderson, B. E. (Brian E.), Schumacher, F. (Fredrick), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnaes, G. G. (Grethe Grenaker), Zheng, W. (Wei), Hunter, D. J. (David J.), Lindstrom, S. (Sara), Hankinson, S. E. (Susan E.), Kraft, P. (Peter), Andrulis, I. (Irene), Knight, J. A. (Julia A.), Glendon, G. (Gord), Mulligan, A. M. (Anna Marie), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kauppila, S. (Saila), Devilee, P. (Peter), Tollenaar, R. A. (Robert A. E. M.), Seynaeve, C. (Caroline), Hollestelle, A. (Antoinette), Garcia-Closas, M. (Montserrat), Figueroa, J. (Jonine), Chanock, S. J. (Stephen J.), Lissowska, J. (Jolanta), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Eccles, D. M. (Diana M.), Rafiq, S. (Sajjad), Tapper, W. J. (William J.), Gerty, S. M. (Sue M.), Hooning, M. J. (Maartje J.), Martens, J. W. (John W. M.), Collee, J. M. (J. Margriet), Tilanus-Linthorst, M. (Madeleine), Hall, P. (Per), Li, J. (Jingmei), Brand, J. S. (Judith S.), Humphreys, K. (Keith), Cox, A. (Angela), Reed, M. W. (Malcolm W. R.), Luccarini, C. (Craig), Baynes, C. (Caroline), Dunning, A. M. (Alison M.), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H. U. (Hans Ulrich), Ruediger, T. (Thomas), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A. E. (Amanda E.), Ambrosone, C. B. (Christine B.), Yannoukakos, D. (Drakoulis), Swerdlow, A. (Anthony), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Gonzalez-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M. (M.), Alvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D. C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Simard, J. (Jacques), Dumont, M. (Martine), Soucy, P. (Penny), Eeles, R. (Rosalind), Muir, K. (Kenneth), Wiklund, F. (Fredrik), Gronberg, H. (Henrik), Schleutker, J. (Johanna), Nordestgaard, B. G. (Borge G.), Weischer, M. (Maren), Travis, R. C. (Ruth C.), Neal, D. (David), Donovan, J. L. (Jenny L.), Hamdy, F. C. (Freddie C.), Khaw, K.-T. (Kay-Tee), Stanford, J. L. (Janet L.), Blot, W. J. (William J.), Thibodeau, S. (Stephen), Schaid, D. J. (Daniel J.), Kelley, J. L. (Joseph L.), Maier, C. (Christiane), Kibel, A. S. (Adam S.), Cybulski, C. (Cezary), Cannon-Albright, L. (Lisa), Butterbach, K. (Katja), Park, J. (Jong), Kaneva, R. (Radka), Batra, J. (Jyotsna), Teixeira, M. R. (Manuel R.), Kote-Jarai, Z. (Zsofia), Al Olama, A. A. (Ali Amin), Benlloch, S. (Sara), Renner, S. P. (Stefan P.), Hartmann, A. (Arndt), Hein, A. (Alexander), Ruebner, M. (Matthias), Lambrechts, D. (Diether), Van Nieuwenhuysen, E. (Els), Vergote, I. (Ignace), Lambretchs, S. (Sandrina), Doherty, J. A. (Jennifer A.), Rossing, M. A. (Mary Anne), Nickels, S. (Stefan), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Odunsi, K. (Kunle), Sucheston-Campbell, L. E. (Lara E.), Friel, G. (Grace), Lurie, G. (Galina), Killeen, J. L. (Jeffrey L.), Wilkens, L. R. (Lynne R.), Goodman, M. T. (Marc T.), Runnebaum, I. (Ingo), Hillemanns, P. A. (Peter A.), Pelttari, L. M. (Liisa M.), Butzow, R. (Ralf), Modugno, F. (Francesmary), Edwards, R. P. (Robert P.), Ness, R. B. (Roberta B.), Moysich, K. B. (Kirsten B.), du Bois, A. (Andreas), Heitz, F. (Florian), Harter, P. (Philipp), Kommoss, S. (Stefan), Karlan, B. Y. (Beth Y.), Walsh, C. (Christine), Lester, J. (Jenny), Jensen, A. (Allan), Kjaer, S. K. (Susanne Kruger), Hogdall, E. (Estrid), Peissel, B. (Bernard), Bonanni, B. (Bernardo), Bernard, L. (Loris), Goode, E. L. (Ellen L.), Fridley, B. L. (Brooke L.), Vierkant, R. A. (Robert A.), Cunningham, J. M. (Julie M.), Larson, M. C. (Melissa C.), Fogarty, Z. C. (Zachary C.), Kalli, K. R. (Kimberly R.), Liang, D. (Dong), Lu, K. H. (Karen H.), Hildebrandt, M. A. (Michelle A. T.), Wu, X. (Xifeng), Levine, D. A. (Douglas A.), Dao, F. (Fanny), Bisogna, M. (Maria), Berchuck, A. (Andrew), Iversen, E. S. (Edwin S.), Marks, J. R. (Jeffrey R.), Akushevich, L. (Lucy), Cramer, D. W. (Daniel W.), Schildkraut, J. (Joellen), Terry, K. L. (Kathryn L.), Poole, E. M. (Elizabeth M.), Stampfer, M. (Meir), Tworoger, S. S. (Shelley S.), Bandera, E. V. (Elisa V.), Orlow, I. (Irene), Olson, S. H. (Sara H.), Bjorge, L. (Line), Salvesen, H. B. (Helga B.), van Altena, A. M. (Anne M.), Aben, K. K. (Katja K. H.), Kiemeney, L. A. (Lambertus A.), Massuger, L. F. (Leon F. A. G.), Pejovic, T. (Tanja), Bean, Y. (Yukie), Brooks-Wilson, A. (Angela), Kelemen, L. E. (Linda E.), Cook, L. S. (Linda S.), Le, N. D. (Nhu D.), Grski, B. (Bohdan), Gronwald, J. (Jacek), Menkiszak, J. (Janusz), Hogdall, C. K. (Claus K.), Lundvall, L. (Lene), Nedergaard, L. (Lotte), Engelholm, S. A. (Svend Aage), Dicks, E. (Ed), Tyrer, J. (Jonathan), Campbell, I. (Ian), McNeish, I. (Iain), Paul, J. (James), Siddiqui, N. (Nadeem), Glasspool, R. (Rosalind), Whittemore, A. S. (Alice S.), Rothstein, J. H. (Joseph H.), McGuire, V. (Valerie), Sieh, W. (Weiva), Cai, H. (Hui), Shu, X.-O. (Xiao-Ou), Teten, R. T. (Rachel T.), Sutphen, R. (Rebecca), McLaughlin, J. R. (John R.), Narod, S. A. (Steven A.), Phelan, C. M. (Catherine M.), Monteiro, A. N. (Alvaro N.), Fenstermacher, D. (David), Lin, H.-Y. (Hui-Yi), Permuth, J. B. (Jennifer B.), Sellers, T. A. (Thomas A.), Chen, Y. A. (Y. Ann), Tsai, Y.-Y. (Ya-Yu), Chen, Z. (Zhihua), Gentry-Maharaj, A. (Aleksandra), Gayther, S. A. (Simon A.), Ramus, S. J. (Susan J.), Menon, U. (Usha), Wu, A. H. (Anna H.), Pearce, C. L. (Celeste L.), Van den Berg, D. (David), Pike, M. C. (Malcolm C.), Dansonka-Mieszkowska, A. (Agnieszka), Plisiecka-Halasa, J. (Joanna), Moes-Sosnowska, J. (Joanna), Kupryjanczyk, J. (Jolanta), Pharoah, P. D. (Paul D. P.), Song, H. (Honglin), Winship, I. (Ingrid), Chenevix-Trench, G. (Georgia), Giles, G. G. (Graham G.), Tavtigian, S. V. (Sean V.), Easton, D. F. (Doug F.), and Milne, R. L. (Roger L.)

Subjects
skin and connective tissue diseases
Abstract

Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p = 7.1 × 10⁻⁵), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p = 6.9 × 10⁻⁸) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p = 0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p ≤ 0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p = 0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p = 0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

Published
2016

29. Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

Author

Bolton, KL, Tyrer, J, Song, H, Ramus, SJ, Notaridou, M, Jones, C, Sher, T, Gentry-Maharaj, A, Wozniak, E, Tsai, Y-Y, Weidhaas, J, Paik, D, Van Den Berg, DJ, Stram, DO, Pearce, CL, Wu, AH, Brewster, W, Anton-Culver, H, Ziogas, A, Narod, SA, Levine, DA, Kaye, SB, Brown, R, Paul, J, Flanagan, J, Sieh, W, McGuire, V, Whittemore, AS, Campbell, I, Gore, ME, Lissowska, J, Yang, HP, Medrek, K, Gronwald, J, Lubinski, J, Jakubowska, A, Le, ND, Cook, LS, Kelemen, LE, Brooks-Wilson, A, Massuger, LFAG, Kiemeney, LA, Aben, KKH, van Altena, AM, Houlston, R, Tomlinson, I, Palmieri, RT, Moorman, PG, Schildkraut, J, Iversen, ES, Phelan, C, Vierkant, RA, Cunningham, JM, Goode, EL, Fridley, BL, Kruger-Kjaer, S, Blaeker, J, Hogdall, E, Hogdall, C, Gross, J, Karlan, BY, Ness, RB, Edwards, RP, Odunsi, K, Moyisch, KB, Baker, JA, Modugno, F, Heikkinenen, T, Butzow, R, Nevanlinna, H, Leminen, A, Bogdanova, N, Antonenkova, N, Doerk, T, Hillemanns, P, Dürst, M, Runnebaum, I, Thompson, PJ, Carney, ME, Goodman, MT, Lurie, G, Wang-Gohrke, S, Hein, R, Chang-Claude, J, Rossing, MA, Cushing-Haugen, KL, Doherty, J, Chen, C, Rafnar, T, Besenbacher, S, Sulem, P, Stefansson, K, Birrer, MJ, Terry, KL, Hernandez, D, Cramer, DW, Vergote, I, Amant, F, Lambrechts, D, Despierre, E, Fasching, PA, Beckmann, MW, Thiel, FC, Ekici, AB, Chen, X, Australian Ovarian Cancer Study Group, Johnatty, SE, Webb, PM, Beesley, J, Chanock, S, Garcia-Closas, M, Sellers, T, Easton, DF, Berchuck, A, Chenevix-Trench, G, Pharoah, PDP, and Gayther, SA

Subjects
Australian Ovarian Cancer Study Group
Published
2016

33. Mendelian randomization study of adiposity-related traits and risk of breast, ovarian, prostate, lung and colorectal cancer

Author

Gao, Chi, Patel, Chirag J., Michailidou, Kyriaki, Peters, Ulrike, Gong, Jian, Schildkraut, Joellen, Schumacher, Fredrick R., Boffetta, Paolo, Stucker, Isabelle, Willett, Walter, Gruber, Stephen, Easton, Douglas F., Hunter, David J., Sellers, T., Haiman, Christopher, Henderson, B., Hung, Rayjean J., Amos, Christopher, Pierce, Brandon L., Lindström, Sara, Kraft, Peter, Uitterlinden, Andre G., Hofman, Albert, Gao, Chi, Patel, Chirag J., Michailidou, Kyriaki, Peters, Ulrike, Gong, Jian, Schildkraut, Joellen, Schumacher, Fredrick R., Boffetta, Paolo, Stucker, Isabelle, Willett, Walter, Gruber, Stephen, Easton, Douglas F., Hunter, David J., Sellers, T., Haiman, Christopher, Henderson, B., Hung, Rayjean J., Amos, Christopher, Pierce, Brandon L., Lindström, Sara, Kraft, Peter, Uitterlinden, Andre G., and Hofman, Albert

Abstract

Background: Adiposity traits have been associated with risk of many cancers in observational studies, but whether these associations are causal is unclear. Mendelian randomization (MR) uses genetic predictors of risk factors as instrumental variables to eliminate reverse causation and reduce confounding bias. We performed MR analyses to assess the possible causal relationship of birthweight, childhood and adult body mass index (BMI), and waist-hip ratio (WHR) on the risks of breast, ovarian, prostate, colorectal and lung cancers. Methods: We tested the association between genetic risk scores and each trait using summary statistics from published genome-wide association studies (GWAS) and from 51 537 cancer cases and 61 600 controls in the Genetic Associations and Mechanisms in Oncology (GAME-ON) Consortium. Results: We found an inverse association between the genetic score for childhood BMI and risk of breast cancer [odds ratio (OR)=0.71 per standard deviation (s.d.) increase in childhood BMI; 95% confidence interval (CI): 0.60, 0.80; P=6.5×10-5). We also found the genetic score for adult BMI to be inversely associated with breast cancer risk (OR=0.66 per s.d. increase in BMI; 95% CI: 0.57, 0.77; P=2.5×10-7), and positively associated with ovarian cancer (OR=1.35; 95% CI: 1.05, 1.72; P=0.017), lung cancer (OR=1.27; 95% CI: 1.09, 1.49; P=2.9×10-3) and colorectal cancer (OR=1.39; 95% CI: 1.06, 1.82, P=0.016). The inverse association between genetically predicted adult BMI and breast cancer risk remained even after adjusting for directional pleiotropy via MR-Egger regression. Conclusions: Findings from this study provide additional understandings of the complex relationship between adiposity and cancer risks. Our results for breast and lung cancer are particularly interesting, given previous reports of effect heterogeneity by menopausal status and smoking status.

Published
2016

34. Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium

Author

Johnatty, S.E., Tyrer, J.P., Kar, S., Beesley, J., Lu, Y., Gao, B., Fasching, P.A., Hein, A., Ekici, A.B., Beckmann, M.W., Lambrechts, D., Nieuwenhuysen, E. Van, Vergote, I., Lambrechts, S., Rossing, M.A., Doherty, J.A., Chang-Claude, J., Modugno, F., Ness, R.B., Moysich, K.B., Levine, D.A., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Gronwald, J., Lubinski, J., Jakubowska, A., Cybulski, C., Brinton, L., Lissowska, J., Wentzensen, N., Song, H., Rhenius, V., Campbell, I., Eccles, D., Sieh, W., Whittemore, A.S., McGuire, V., Rothstein, J.H., Sutphen, R., Anton-Culver, H., Ziogas, A., Gayther, S.A., Gentry-Maharaj, A., Menon, U., Ramus, S.J., Pearce, C.L., Pike, M.C., Stram, D.O., Wu, A.H., Kupryjanczyk, J., Dansonka-Mieszkowska, A., Rzepecka, I.K., Spiewankiewicz, B., Goodman, M.T., Wilkens, L.R., Carney, M.E., Thompson, P.J., Heitz, F., Bois, A. du, Schwaab, I., Harter, P., Pisterer, J., Hillemanns, P., Karlan, B.Y., Walsh, C., Lester, J., Orsulic, S., Winham, S.J., Earp, M., Larson, M.C., Fogarty, Z.C., Hogdall, E., Jensen, A., Kjaer, S.K., Fridley, B.L., Cunningham, J.M., Vierkant, R.A., Schildkraut, J.M., Iversen, E.S., Terry, K.L., Cramer, D.W, Bandera, E.V., Orlow, I., Pejovic, T., Bean, Y., Hogdall, C., Lundvall, L., McNeish, I., Paul, J., Carty, K., Siddiqui, N., Glasspool, R., Sellers, T., Kennedy, C., Chiew, Y.E., Berchuck, A., MacGregor, S., Pharoah, P.D., Goode, E.L., Defazio, A., et al., Johnatty, S.E., Tyrer, J.P., Kar, S., Beesley, J., Lu, Y., Gao, B., Fasching, P.A., Hein, A., Ekici, A.B., Beckmann, M.W., Lambrechts, D., Nieuwenhuysen, E. Van, Vergote, I., Lambrechts, S., Rossing, M.A., Doherty, J.A., Chang-Claude, J., Modugno, F., Ness, R.B., Moysich, K.B., Levine, D.A., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Gronwald, J., Lubinski, J., Jakubowska, A., Cybulski, C., Brinton, L., Lissowska, J., Wentzensen, N., Song, H., Rhenius, V., Campbell, I., Eccles, D., Sieh, W., Whittemore, A.S., McGuire, V., Rothstein, J.H., Sutphen, R., Anton-Culver, H., Ziogas, A., Gayther, S.A., Gentry-Maharaj, A., Menon, U., Ramus, S.J., Pearce, C.L., Pike, M.C., Stram, D.O., Wu, A.H., Kupryjanczyk, J., Dansonka-Mieszkowska, A., Rzepecka, I.K., Spiewankiewicz, B., Goodman, M.T., Wilkens, L.R., Carney, M.E., Thompson, P.J., Heitz, F., Bois, A. du, Schwaab, I., Harter, P., Pisterer, J., Hillemanns, P., Karlan, B.Y., Walsh, C., Lester, J., Orsulic, S., Winham, S.J., Earp, M., Larson, M.C., Fogarty, Z.C., Hogdall, E., Jensen, A., Kjaer, S.K., Fridley, B.L., Cunningham, J.M., Vierkant, R.A., Schildkraut, J.M., Iversen, E.S., Terry, K.L., Cramer, D.W, Bandera, E.V., Orlow, I., Pejovic, T., Bean, Y., Hogdall, C., Lundvall, L., McNeish, I., Paul, J., Carty, K., Siddiqui, N., Glasspool, R., Sellers, T., Kennedy, C., Chiew, Y.E., Berchuck, A., MacGregor, S., Pharoah, P.D., Goode, E.L., Defazio, A., and et al.

Abstract

Contains fulltext : 152262.pdf (publisher's version ) (Closed access), PURPOSE: Chemotherapy resistance remains a major challenge in the treatment of ovarian cancer. We hypothesize that germline polymorphisms might be associated with clinical outcome. EXPERIMENTAL DESIGN: We analyzed approximately 2.8 million genotyped and imputed SNPs from the iCOGS experiment for progression-free survival (PFS) and overall survival (OS) in 2,901 European epithelial ovarian cancer (EOC) patients who underwent first-line treatment of cytoreductive surgery and chemotherapy regardless of regimen, and in a subset of 1,098 patients treated with >/=4 cycles of paclitaxel and carboplatin at standard doses. We evaluated the top SNPs in 4,434 EOC patients, including patients from The Cancer Genome Atlas. In addition, we conducted pathway analysis of all intragenic SNPs and tested their association with PFS and OS using gene set enrichment analysis. RESULTS: Five SNPs were significantly associated (P

Published
2015

35. Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

Author

Al Olama, AA, Dadaev, T, Hazelett, DJ, Li, Q, Leongamornlert, D, Saunders, EJ, Stephens, S, Cieza-Borrella, C, Whitmore, I, Garcia, SB, Giles, GG, Southey, MC, Fitzgerald, L, Gronberg, H, Wiklund, F, Aly, M, Henderson, BE, Schumacher, F, Haiman, CA, Schleutker, J, Wahlfors, T, Tammela, TL, Nordestgaard, BG, Key, TJ, Travis, RC, Neal, DE, Donovan, JL, Hamdy, FC, Pharoah, P, Pashayan, N, Khaw, K-T, Stanford, JL, Thibodeau, SN, Mcdonnell, SK, Schaid, DJ, Maier, C, Vogel, W, Luedeke, M, Herkommer, K, Kibel, AS, Cybulski, C, Wokolorczyk, D, Kluzniak, W, Cannon-Albright, L, Brenner, H, Butterbach, K, Arndt, V, Park, JY, Sellers, T, Lin, H-Y, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Clements, JA, Spurdle, A, Teixeira, MR, Paulo, P, Maia, S, Pandha, H, Michael, A, Kierzek, A, Govindasami, K, Guy, M, Lophatonanon, A, Muir, K, Vinuela, A, Brown, AA, Freedman, M, Conti, DV, Easton, D, Coetzee, GA, Eeles, RA, Kote-Jarai, Z, Al Olama, AA, Dadaev, T, Hazelett, DJ, Li, Q, Leongamornlert, D, Saunders, EJ, Stephens, S, Cieza-Borrella, C, Whitmore, I, Garcia, SB, Giles, GG, Southey, MC, Fitzgerald, L, Gronberg, H, Wiklund, F, Aly, M, Henderson, BE, Schumacher, F, Haiman, CA, Schleutker, J, Wahlfors, T, Tammela, TL, Nordestgaard, BG, Key, TJ, Travis, RC, Neal, DE, Donovan, JL, Hamdy, FC, Pharoah, P, Pashayan, N, Khaw, K-T, Stanford, JL, Thibodeau, SN, Mcdonnell, SK, Schaid, DJ, Maier, C, Vogel, W, Luedeke, M, Herkommer, K, Kibel, AS, Cybulski, C, Wokolorczyk, D, Kluzniak, W, Cannon-Albright, L, Brenner, H, Butterbach, K, Arndt, V, Park, JY, Sellers, T, Lin, H-Y, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Clements, JA, Spurdle, A, Teixeira, MR, Paulo, P, Maia, S, Pandha, H, Michael, A, Kierzek, A, Govindasami, K, Guy, M, Lophatonanon, A, Muir, K, Vinuela, A, Brown, AA, Freedman, M, Conti, DV, Easton, D, Coetzee, GA, Eeles, RA, and Kote-Jarai, Z

Abstract

Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in 25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same region

Published
2015

37. Legal briefing: The unbefriended: making healthcare decisions for patients without surrogates (Part 1)

Author

Thaddeus Pope and Sellers, T.

Subjects
Advance Care Planning, Informed Consent, Decision Making, Ethics Consultation, Humans, Emergencies, United States, Patient Care Management
Abstract

This issue's "Legal Briefing" column covers recent legal developments involving medical decision making for unbefriended patients. These patients have neither decision-making capacity nor a reasonably available surrogate to make healthcare decisions on their behalf. This topic has been the subject of recent articles in JCE. It has been the subject of major policy reports. Indeed, caring for the unbefriended has even been described as the "single greatest category of problems" encountered in bioethics consultation. Moreover, the scope of the problem continues to expand, especially with rapid growth in the elderly population and with an increased prevalence of dementia. Unfortunately, most U.S. jurisdictions have failed to adopt effective healthcare decision-making systems or procedures for the unbefriended. "Existing mechanisms to address the issue of decision making for the unbefriended are scant and not uniform". Most providers are "muddling through on an ad hoc basis". Still, over the past several months, a number of state legislatures have finally addressed the issue. These developments and a survey of the current landscape are grouped into the following 14 categories. The first two define the problem of medical decision making for the unbefriended. The remaining 12 categories describe different solutions to the problem. The first six of these solutions are discussed in this article (Part 1). The last eight solutions will be covered in the Summer 2012 issue of JCE (Part 2). 1. Who are the unbefriended? 2. Risks and problems of the unbefriended. 3.advance care planning, diligent searching, and careful capacity assessment. 4. Decision-making mechanisms and standards. 5. Emergency exception to informed consent. 6. Expanded default surrogate lists: close friends. 7. Private guardians. 8. Volunteer guardians. 9. Public guardians. 10. Temporary and emergency guardians. 11. Attending physicians. 12. Other clinicians, individuals, and entities. 13. Institutional committees. 14. External committees.

Published
2012

39. A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

Author

Al Olama, AA, Kote-Jarai, Z, Berndt, SI, Conti, DV, Schumacher, F, Han, Y, Benlloch, S, Hazelett, DJ, Wang, Z, Saunders, E, Leongamornlert, D, Lindstrom, S, Jugurnauth-Little, S, Dadaev, T, Tymrakiewicz, M, Stram, DO, Rand, K, Wan, P, Stram, A, Sheng, X, Pooler, LC, Park, K, Xia, L, Tyrer, J, Kolonel, LN, Le Marchand, L, Hoover, RN, Machiela, MJ, Yeager, M, Burdette, L, Chung, CC, Hutchinson, A, Yu, K, Goh, C, Ahmed, M, Govindasami, K, Guy, M, Tammela, TLJ, Auvinen, A, Wahlfors, T, Schleutker, J, Visakorpi, T, Leinonen, KA, Xu, J, Aly, M, Donovan, J, Travis, RC, Key, TJ, Siddiq, A, Canzian, F, Khaw, K-T, Takahashi, A, Kubo, M, Pharoah, P, Pashayan, N, Weischer, M, Nordestgaard, BG, Nielsen, SF, Klarskov, P, Roder, MA, Iversen, P, Thibodeau, SN, McDonnell, SK, Schaid, DJ, Stanford, JL, Kolb, S, Holt, S, Knudsen, B, Coll, AH, Gapstur, SM, Diver, WR, Stevens, VL, Maier, C, Luedeke, M, Herkommer, K, Rinckleb, AE, Strom, SS, Pettaway, C, Yeboah, ED, Tettey, Y, Biritwum, RB, Adjei, AA, Tay, E, Truelove, A, Niwa, S, Choklcalingam, AP, Cannon-Albright, L, Cybulski, C, Wokolorczyk, D, Kluzniak, W, Park, J, Sellers, T, Lin, H-Y, Isaacs, WB, Partin, AW, Brenner, H, Dieffenbach, AK, Stegmaier, C, Chen, C, Giovannucci, EL, Ma, J, Stampfer, M, Penney, KL, Mucci, L, John, EM, Ingles, SA, Kittles, RA, Murphy, AB, Pandha, H, Michael, A, Kierzek, AM, Blot, W, Signorello, LB, Zheng, W, Albanes, D, Virtamo, J, Weinstein, S, Nemesure, B, Carpten, J, Leske, C, Wu, S-Y, Hennis, A, Kibel, AS, Rybicki, BA, Neslund-Dudas, C, Hsing, AW, Chu, L, Goodman, PJ, Klein, EA, Zheng, SL, Batra, J, Clements, J, Spurdle, A, Teixeira, MR, Paulo, P, Maia, S, Slavov, C, Kaneva, R, Mitev, V, Witte, JS, Casey, G, Gillanders, EM, Seminara, D, Riboli, E, Hamdy, FC, Coetzee, GA, Li, Q, Freedman, ML, Hunter, DJ, Muir, K, Gronberg, H, Nea, DE, Southey, M, Giles, GG, Severi, G, Cook, MB, Nakagawa, H, Wiklund, F, Kraft, P, Chanock, SJ, Henderson, BE, Easton, DF, Eeles, RA, Haiman, CA, Al Olama, AA, Kote-Jarai, Z, Berndt, SI, Conti, DV, Schumacher, F, Han, Y, Benlloch, S, Hazelett, DJ, Wang, Z, Saunders, E, Leongamornlert, D, Lindstrom, S, Jugurnauth-Little, S, Dadaev, T, Tymrakiewicz, M, Stram, DO, Rand, K, Wan, P, Stram, A, Sheng, X, Pooler, LC, Park, K, Xia, L, Tyrer, J, Kolonel, LN, Le Marchand, L, Hoover, RN, Machiela, MJ, Yeager, M, Burdette, L, Chung, CC, Hutchinson, A, Yu, K, Goh, C, Ahmed, M, Govindasami, K, Guy, M, Tammela, TLJ, Auvinen, A, Wahlfors, T, Schleutker, J, Visakorpi, T, Leinonen, KA, Xu, J, Aly, M, Donovan, J, Travis, RC, Key, TJ, Siddiq, A, Canzian, F, Khaw, K-T, Takahashi, A, Kubo, M, Pharoah, P, Pashayan, N, Weischer, M, Nordestgaard, BG, Nielsen, SF, Klarskov, P, Roder, MA, Iversen, P, Thibodeau, SN, McDonnell, SK, Schaid, DJ, Stanford, JL, Kolb, S, Holt, S, Knudsen, B, Coll, AH, Gapstur, SM, Diver, WR, Stevens, VL, Maier, C, Luedeke, M, Herkommer, K, Rinckleb, AE, Strom, SS, Pettaway, C, Yeboah, ED, Tettey, Y, Biritwum, RB, Adjei, AA, Tay, E, Truelove, A, Niwa, S, Choklcalingam, AP, Cannon-Albright, L, Cybulski, C, Wokolorczyk, D, Kluzniak, W, Park, J, Sellers, T, Lin, H-Y, Isaacs, WB, Partin, AW, Brenner, H, Dieffenbach, AK, Stegmaier, C, Chen, C, Giovannucci, EL, Ma, J, Stampfer, M, Penney, KL, Mucci, L, John, EM, Ingles, SA, Kittles, RA, Murphy, AB, Pandha, H, Michael, A, Kierzek, AM, Blot, W, Signorello, LB, Zheng, W, Albanes, D, Virtamo, J, Weinstein, S, Nemesure, B, Carpten, J, Leske, C, Wu, S-Y, Hennis, A, Kibel, AS, Rybicki, BA, Neslund-Dudas, C, Hsing, AW, Chu, L, Goodman, PJ, Klein, EA, Zheng, SL, Batra, J, Clements, J, Spurdle, A, Teixeira, MR, Paulo, P, Maia, S, Slavov, C, Kaneva, R, Mitev, V, Witte, JS, Casey, G, Gillanders, EM, Seminara, D, Riboli, E, Hamdy, FC, Coetzee, GA, Li, Q, Freedman, ML, Hunter, DJ, Muir, K, Gronberg, H, Nea, DE, Southey, M, Giles, GG, Severi, G, Cook, MB, Nakagawa, H, Wiklund, F, Kraft, P, Chanock, SJ, Henderson, BE, Easton, DF, Eeles, RA, and Haiman, CA

Abstract

Genome-wide association studies (GWAS) have identified 76 variants associated with prostate cancer risk predominantly in populations of European ancestry. To identify additional susceptibility loci for this common cancer, we conducted a meta-analysis of > 10 million SNPs in 43,303 prostate cancer cases and 43,737 controls from studies in populations of European, African, Japanese and Latino ancestry. Twenty-three new susceptibility loci were identified at association P < 5 × 10(-8); 15 variants were identified among men of European ancestry, 7 were identified in multi-ancestry analyses and 1 was associated with early-onset prostate cancer. These 23 variants, in combination with known prostate cancer risk variants, explain 33% of the familial risk for this disease in European-ancestry populations. These findings provide new regions for investigation into the pathogenesis of prostate cancer and demonstrate the usefulness of combining ancestrally diverse populations to discover risk loci for disease.

Published
2014

40. How to Change Behavior in the Context of an FBA-Based Intervention

Author

Morgan, Robert L., Sellers, T., and Keyl, A.

Subjects
behavior change, Special Education and Teaching, ComputingMilieux_COMPUTERSANDEDUCATION, FBA-based intervention, Education
Abstract

Teachers implementing behavior interventions are often more effective in eliminating problem behavior and building new skills if they start with functional behavior assessment (FBA). Using FBA, the teacher identifies the purpose, or function, of a problem behavior, then teaches a “replacement skill” that serves the same function. For example, rather than throw a tantrum to avoid a high demand assignment, a teacher teaches a seventh grader to approach an adult in the room to ask for help on particularly difficult problems. Or, instead of making noises to get attention, a teacher teaches a first grader to submit a card with a picture of himself helping the teacher as if to ask “can I be your helper this morning?”

Published
2009

41. EP4 Advanced Educational Session: Whole Genome Genotyping

Author

Welch, R. A., Sellers, T., Moran, J., and Chanock, S.

Subjects
ComputingMethodologies_PATTERNRECOGNITION, Educational Session Abstracts
Abstract

This session will address the fundamental issues in the design, analysis, and genotyping of genome-wide genetic association studies conducted to identify low-penetrance, high-frequency alleles associated with common diseases or traits. The program will review the critical issues in the epidemiologic design and collection of biospecimens for subsequent genetic analysis with high-throughput technologies for genotyping analysis. A review of current genotyping platforms and analytic strategies will highlight the spectrum of approaches towards mapping complex diseases and traits. The session will discuss currently available commercial and academic genotyping panels, as well as important considerations in genotyping strategy. Several ongoing studies will be discussed, particularly in reference to quality control, analysis, and bioinformatic support required to efficiently complete the studies. Presentations will also address statistical issues in consideration of the choice of samples and genotyping best suited to meet the scientific goals of a project.

Published
2007

42. Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium

Author

Pearce, C L, Near, A M, Van Den Berg, D J, Ramus, S J, Gentry-Maharaj, A, Menon, U, Gayther, S A, Anderson, A R, Edlund, C K, Wu, A H, Chen, X, Beesley, J, Webb, P M, Holt, S K, Chen, C, Doherty, J A, Rossing, M A, Whittemore, A S, McGuire, V, DiCioccio, R A, Goodman, M T, Lurie, G, Carney, M E, Wilkens, L R, Ness, R B, Moysich, K B, Edwards, R, Jennison, E, Kjær, Susanne Krüger, Hogdall, E, Hogdall, C K, Goode, E L, Sellers, T A, Vierkant, R A, Cunningham, J M, Cunningham, J C, Schildkraut, J M, Berchuck, A, Moorman, P G, Iversen, E S, Cramer, D W, Terry, K L, Vitonis, A F, Titus-Ernstoff, L, Song, H, Pharoah, P D P, Spurdle, A B, Anton-Culver, H, Ziogas, A, Brewster, W, Pearce, C L, Near, A M, Van Den Berg, D J, Ramus, S J, Gentry-Maharaj, A, Menon, U, Gayther, S A, Anderson, A R, Edlund, C K, Wu, A H, Chen, X, Beesley, J, Webb, P M, Holt, S K, Chen, C, Doherty, J A, Rossing, M A, Whittemore, A S, McGuire, V, DiCioccio, R A, Goodman, M T, Lurie, G, Carney, M E, Wilkens, L R, Ness, R B, Moysich, K B, Edwards, R, Jennison, E, Kjær, Susanne Krüger, Hogdall, E, Hogdall, C K, Goode, E L, Sellers, T A, Vierkant, R A, Cunningham, J M, Cunningham, J C, Schildkraut, J M, Berchuck, A, Moorman, P G, Iversen, E S, Cramer, D W, Terry, K L, Vitonis, A F, Titus-Ernstoff, L, Song, H, Pharoah, P D P, Spurdle, A B, Anton-Culver, H, Ziogas, A, and Brewster, W

Abstract

Udgivelsesdato: 2009-Jan-27, The search for genetic variants associated with ovarian cancer risk has focused on pathways including sex steroid hormones, DNA repair, and cell cycle control. The Ovarian Cancer Association Consortium (OCAC) identified 10 single-nucleotide polymorphisms (SNPs) in genes in these pathways, which had been genotyped by Consortium members and a pooled analysis of these data was conducted. Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a log-additive model: rs2740574 in CYP3A4 (P=0.011), rs1805386 in LIG4 (P=0.007), and rs3218536 in XRCC2 (P=0.095). Additional genotyping in other OCAC studies was undertaken and only the variant in CYP3A4, rs2740574, continued to show an association in the replication data among homozygous carriers: OR(homozygous(hom))=2.50 (95% CI 0.54-11.57, P=0.24) with 1406 cases and 2827 controls. Overall, in the combined data the odds ratio was 2.81 among carriers of two copies of the minor allele (95% CI 1.20-6.56, P=0.017, p(het) across studies=0.42) with 1969 cases and 3491 controls. There was no association among heterozygous carriers. CYP3A4 encodes a key enzyme in oestrogen metabolism and our finding between rs2740574 and risk of ovarian cancer suggests that this pathway may be involved in ovarian carcinogenesis. Additional follow-up is warranted.

Published
2009

43. Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis

Author

Cunningham, J M, Vierkant, R A, Sellers, T A, Phelan, C, Rider, D N, Liebow, M, Schildkraut, J, Berchuck, A, Couch, F J, Wang, X, Fridley, B L, Gentry-Maharaj, A, Menon, U, Hogdall, E, Kjær, Susanne Krüger, Whittemore, A, DiCioccio, R, Song, H, Gayther, S A, Ramus, S J, Pharaoh, P D P, Goode, E L, Cunningham, J M, Vierkant, R A, Sellers, T A, Phelan, C, Rider, D N, Liebow, M, Schildkraut, J, Berchuck, A, Couch, F J, Wang, X, Fridley, B L, Gentry-Maharaj, A, Menon, U, Hogdall, E, Kjær, Susanne Krüger, Whittemore, A, DiCioccio, R, Song, H, Gayther, S A, Ramus, S J, Pharaoh, P D P, and Goode, E L

Abstract

Udgivelsesdato: 2009-Oct-20, BACKGROUND: Dysregulation of the cell cycle is a hallmark of many cancers including ovarian cancer, a leading cause of gynaecologic cancer mortality worldwide. METHODS: We examined single nucleotide polymorphisms (SNPs) (n=288) from 39 cell cycle regulation genes, including cyclins, cyclin-dependent kinases (CDKs) and CDK inhibitors, in a two-stage study. White, non-Hispanic cases (n=829) and ovarian cancer-free controls (n=941) were genotyped using an Illumina assay. RESULTS: Eleven variants in nine genes (ABL1, CCNB2, CDKN1A, CCND3, E2F2, CDK2, E2F3, CDC2, and CDK7) were associated with risk of ovarian cancer in at least one genetic model. Seven SNPs were then assessed in four additional studies with 1689 cases and 3398 controls. Association between risk of ovarian cancer and ABL1 rs2855192 found in the original population [odds ratio, OR(BB vs AA) 2.81 (1.29-6.09), P=0.01] was also observed in a replication population, and the association remained suggestive in the combined analysis [OR(BB vs AA) 1.59 (1.08-2.34), P=0.02]. No other SNP associations remained suggestive in the replication populations. CONCLUSION: ABL1 has been implicated in multiple processes including cell division, cell adhesion and cellular stress response. These results suggest that characterization of the function of genetic variation in this gene in other ovarian cancer populations is warranted.

Published
2009

47. Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer

Author

Pal, T, primary, Akbari, M R, additional, Sun, P, additional, Lee, J-H, additional, Fulp, J, additional, Thompson, Z, additional, Coppola, D, additional, Nicosia, S, additional, Sellers, T A, additional, McLaughlin, J, additional, Risch, H A, additional, Rosen, B, additional, Shaw, P, additional, Schildkraut, J, additional, and Narod, S A, additional

Published
2012
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49. Association of KRAS SNP rs61764370 with risk of invasive epithelial ovarian cancer: Implications for clinical testing

Author

Berchuck, A., primary, Pharoah, P., additional, Ramus, S., additional, Gayther, S., additional, Palmieri, R., additional, Pearce, C., additional, Couch, F., additional, Antonio, A., additional, Goode, E., additional, Schildkraut, J., additional, Chenevix-Trench, G., additional, Sellers, T., additional, and Risch, H., additional

Published
2011
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50. Inherited Determinants of Ovarian Cancer Survival

Author

Goode, E. L., primary, Maurer, M. J., additional, Sellers, T. A., additional, Phelan, C. M., additional, Kalli, K. R., additional, Fridley, B. L., additional, Vierkant, R. A., additional, Armasu, S. M., additional, White, K. L., additional, Keeney, G. L., additional, Cliby, W. A., additional, Rider, D. N., additional, Kelemen, L. E., additional, Jones, M. B., additional, Peethambaram, P. P., additional, Lancaster, J. M., additional, Olson, J. E., additional, Schildkraut, J. M., additional, Cunningham, J. M., additional, and Hartmann, L. C., additional

Published
2010
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