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4. A Systematic Review of Speech, Language and Communication Interventions for Children with Down Syndrome from 0 to 6 Years

Author

Seager, Emily, Sampson, Sarah, Sin, Jacqueline, Pagnamenta, Emma, and Stojanovik, Vesna

Abstract

Background: Speech and language acquisition can be a challenge for young children with Down syndrome (DS), and while early intervention is important, we do not know what early interventions exist and how effective they may be. Aims: To systematically review existing early speech, language and communication interventions for young children with DS from birth up to 6 years, and to investigate their effectiveness in improving speech, language and communication outcomes in children with DS. Other outcomes are changes in parental behaviour and their responsiveness. Methods & Procedures: We conducted a systematic search of relevant electronic databases to identify early intervention studies targeting speech, language and communication outcomes in children with DS published up to May 2020. A total of 11 studies that met the inclusion criteria were synthesized and appraised for quality using the PEDro-P scale. There were a total of 242 children. We identified three types of intervention: communication training and responsive teaching, early stimulation programme, and dialectic-didactic approach. Main contribution: The findings from nine out of the 11 studies reported positive outcomes for children's language and communication up to 18 months following the intervention. All nine studies reported interventions that were co-delivered by parents and clinicians. However, there was also a de-accelerated growth in requesting behaviours in the intervention group reported by one study as well as a case of no improvement for the intervention group. Three studies provided some evidence of improvements to parent outcomes, such as increased parental language input and increased responsiveness. However, there was a moderate to high risk of bias for all studies included. Conclusions: The findings from this review suggest that interventions that have high dosage, focus on language and communication training within a naturalistic setting, and are co-delivered by parents and clinicians/researchers may have the potential to provide positive outcomes for children with DS between 0 and 6 years of age. Due to the limited number of studies, limited heterogeneous data and the moderate to high risk of bias across studies, there is an urgent need for higher quality intervention studies in the field to build the evidence base.

Published
2022
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6. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Author

Ahearn, Thomas U., Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Lush, Michael, Wang, Qin, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Collée, J. Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., González-Neira, Anna, Alnæs, Grethe I. Grenaker, Grip, Mervi, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N., Krüger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W., Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G., Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, McLean, Catriona, Meindl, Alfons, Menon, Usha, Nevanlinna, Heli, Newman, William G., Nodora, Jesse, Offit, Kenneth, Olsson, Håkan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V., Peto, Julian, Pita, Guillermo, Plaseska-Karanfilska, Dijana, Prentice, Ross, Punie, Kevin, Pylkäs, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, Rüdiger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Schoemaker, Minouk J., Schöttker, Ben, Sherman, Mark E., Shu, Xiao-Ou, Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teras, Lauren R., Terry, Mary Beth, Torres, Diana, Troester, Melissa A., Vachon, Celine M., van Deurzen, Carolien H. M., van Veen, Elke M., Wagner, Philippe, Weinberg, Clarice R., Wendt, Camilla, Wesseling, Jelle, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Couch, Fergus J., Simard, Jacques, Kraft, Peter, Easton, Douglas F., Pharoah, Paul D. P., Schmidt, Marjanka K., García-Closas, Montserrat, and Chatterjee, Nilanjan

Published
2022
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8. COVID-19: Rapid antigen detection for SARS-CoV-2 by lateral flow assay: A national systematic evaluation of sensitivity and specificity for mass-testing

Author

Affron, Dominic, Afrough, Babak, Agasu, Anita, Ainsworth, Mark, Allanson, Alison, Allen, Katherine, Allen, Collette, Archer, Lorraine, Ashbridge, Natasha, Aurfan, Iman, Avery, Miriam, Badenoch, Ellena, Bagga, Priya, Balaji, Rishab, Baldwin, Ella, Barraclough, Sophie, Beane, Carol, Bell, John, Benford, Tracy, Bird, Susan, Bishop, Marina, Bloss, Angela, Body, Richard, Boulton, Rosie, Bown, Abbie, Bratten, Carla, Bridgeman, Chris, Britton, Dominic, Brooks, Tim, Broughton-Smith, Margaret, Brown, Pauline, Buck, Beverley, Butcher, Elaine, Byrne, Wendy, Calderon, Gloria, Campbell, Siobhan, Carr, Olivia, Carter, Penny, Carter, Daniel, Cathrall, Megan, Catton, Matthew, Chadwick, Jim, Chapman, David, Chau, Kevin K., Chaudary, Tanzina, Chidavaenzi, Shaolin, Chilcott, Samatha, Choi, Bea, Claasen, Hannah, Clark, Simon, Clarke, Richard, Clarke, Dawn, Clayton, Richard, Collins, Kayleigh, Colston, Rima, Connolly, James, Cook, Eloïse, Corcoran, Marie, Corley, Ben, Costello, Laura, Coulson, Caroline, Crook, Ant, Crook, Derrick W., D'Arcangelo, Silvia, Darby, Mary-Anne, Davis, John, de Koning, Rosaline, Derbyshire, Pauline, Devall, Pam, Dolman, Mark, Draper, Natalie, Driver, Mark, Dyas, Sarah, Eaton, Emily, Edwards, Joy, Elderfield, Ruth, Ellis, Kate, Ellis, Graham, Elwell, Sue, Evans, Rachel, Evans, Becky, Evans, Marion, Evans, Ranoromanana, Eyre, David, Fahey, Codie, Fenech, Vanessa, Field, Janet, Field, Alice, Foord, Tom, Fowler, Tom, French, Mollie, Fuchs, Hannah, Gan, Jasmine, Gernon, Joseph, Ghadiali, Geeta, Ghuman, Narindar, Gibbons, Kerry, Gill, Gurvinder, Gilmour, Kate, Goel, Anika, Gordon, Sally, Graham, Tillie, Grassam-Rowe, Alexander, Green, David, Gronert, Anna, Gumsley-Read, Tegan, Hall, Claire, Hallis, Bassam, Hammond, Sally, Hammond, Peter, Hanney, Beth, Hardy, Victoria, Harker, Gabriella, Harris, Andrew, Havinden-Williams, May, Hazell, Elena, Henry, Joanne, Hicklin, Kim, Hollier, Kelly, Holloway, Ben, Hoosdally, Sarah J., Hopkins, Susan, Hughes, Lucy, Hurdowar, Steve, Hurford, Sally-Anne, Jackman, Joanne, Jackson, Harriet, Johns, Ruth, Johnston, Susan, Jones, Juliet, Kanyowa, Tinashe, Keating-Fedders, Katie, Kempson, Sharon, Khan, Iftikhar, Khulusi, Beinn, Knight, Thomas, Krishna, Anuradha, Lahert, Patrick, Lampshire, Zoe, Lasserson, Daniel, Lee, Kirsten, Lee, Lennard Y.W., Legard, Arabella, Leggio, Cristina, Liu, Justin, Lockett, Teresa, Logue, Christopher, Lucas, Vanessa, Lumley, Sheila F., Maripuri, Vindhya, Markham, Des, Marshall, Emma, Matthews, Philippa C., Mckee, Sarah, McKee, Deborah F., McLeod, Neil, McNulty, Antoinette, Mellor, Freddie, Michel, Rachel, Mighiu, Alex, Miller, Julie, Mirza, Zarina, Mistry, Heena, Mitchell, Jane, Moeser, Mika Erik, Moore, Sophie, Muthuswamy, Akhila, Myers, Daniel, Nanson, Gemma, Newbury, Mike, Nicol, Scott, Nuttall, Harry, Nwanaforo, Jewel Jones, Oliver, Louise, Osbourne, Wendy, Osbourne, Jake, Otter, Ashley, Owen, Jodie, Panchalingam, Sulaksan, Papoulidis, Dimitris, Pavon, Juan Dobaldo, Peace, Arro, Pearson, Karen, Peck, Liam, Pegg, Ashley, Pegler, Suzannah, Permain, Helen, Perumal, Prem, Peto, Leon, Peto, Tim E.A., Pham, Thanh, Pickford, Hayleah L., Pinkerton, Mark, Platton, Michelle, Price, Ashley, Protheroe, Emily, Purnell, Hellen, Rawden, Lottie, Read, Sara, Reynard, Charles, Ridge, Susan, Ritter, Tom G., Robinson, James, Robinson, Patrick, Rodger, Gillian, Rowe, Cathy, Rowell, Bertie, Rowlands, Alexandra, Sampson, Sarah, Saunders, Kathryn, Sayers, Rachel, Sears, Jackie, Sedgewick, Richard, Seeney, Laura, Selassie, Amanda, Shail, Lloyd, Shallcross, Jane, Sheppard, Lucy, Sherkat, Anna, Siddiqui, Shelha, Sienkiewicz, Alex, Sinha, Lavanya, Smith, Jennifer, Smith, Ella, Stanton, Emma, Starkey, Thomas, Stawiarski, Aleksander, Sterry, Amelia, Stevens, Joe, Stockbridge, Mark, Stoesser, Nicole, Sukumaran, Anila, Sweed, Angela, Tatar, Sami, Thomas, Hema, Tibbins, Carly, Tiley, Sian, Timmins, Julie, Tomas-Smith, Cara, Topping, Oliver, Turek, Elena, Neibler, Toi, Trigg-Hogarth, Kate, Truelove, Elizabeth, Turnbull, Chris, Tyrrell, David, Vaughan, Alison, Vertannes, John, Vipond, Richard, Wagstaff, Linda, Waldron, Joanne, Walker, Philip, Walker, Ann Sarah, Walters, Mary, Wang, Jenny Y, Watson, Ellie, Webberley, Kate, Webster, Kimerbley, Westland, Grace, Wickens, Ian, Willcocks, Jane, Willis, Herika, Wilson, Stephen, Wilson, Barbara, Woodhead, Louise, Wright, Deborah, Xavier, Bindhu, Yelnoorkar, Fiona, Zeidan, Lisa, Zinyama, Rangeni, and Peto, Tim

Published
2021
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10. What are the benefits and harms of risk stratified screening as part of the NHS breast screening Programme? Study protocol for a multi-site non-randomised comparison of BC-predict versus usual screening (NCT04359420)

Author

French, David P., Astley, Susan, Brentnall, Adam R., Cuzick, Jack, Dobrashian, Richard, Duffy, Stephen W., Gorman, Louise S., Harkness, Elaine F., Harrison, Fiona, Harvie, Michelle, Howell, Anthony, Jerrison, Andrew, Machin, Matthew, Maxwell, Anthony J., McWilliams, Lorna, Payne, Katherine, Qureshi, Nadeem, Ruane, Helen, Sampson, Sarah, Stavrinos, Paula, Thorpe, Emma, Ulph, Fiona, van Staa, Tjeerd, Woof, Victoria, and Evans, D. Gareth

Published
2020
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11. Contributors

Author

Ainsworth, Dorothy M., primary, Aleman, Monica, additional, Angelos, John A., additional, Arroyo, Luis G., additional, Austin, Scott M., additional, Axon, Jane E., additional, Ballweber, Lora Rickard, additional, Bannasch, Danika L., additional, Barakzai, Safia Z., additional, Barrell, Emily A., additional, Barrington, George M., additional, Barton, Michelle H., additional, Bauman, Dale E., additional, Beasley, Erin McConachie, additional, Bedenice, Daniela, additional, Benson, Catherine J., additional, Benson, Dionne, additional, Betbeze, Caroline M., additional, Bickett-Weddle, Danelle A., additional, Blikslager, Anthony T., additional, A. Bohn, Andrea, additional, Bordin, Angela I., additional, Bowman, Dwight D., additional, Boyle, Ashley G., additional, Bozorgmanesh, Rana, additional, Bradford, Barry J., additional, Breuhaus, Babetta, additional, Brinsko, Steven P., additional, Browne, Nimet, additional, Buchanan, Ben, additional, Buczinski, Sébastien, additional, Burton, Alexandra J., additional, Burton, Erin N., additional, Byers, Stacey R., additional, Byrne, Barbara A., additional, Byrne, David P., additional, Callan, Robert J., additional, Cargile, Canaan Whitfield, additional, Carlson, Gary P., additional, Carr, Elizabeth A., additional, Carter, Renee T., additional, Casteel, Stan W., additional, Chaffin, M. Keith, additional, Chesen, Berkley, additional, Chigerwe, Munashe, additional, Christensen, Bruce W., additional, Chuck, Gemma, additional, Clothier, Kristin A., additional, Coetzee, Johann (Hans) F., additional, Coleman, Michelle C., additional, Collier, Robert J., additional, Cortese, Victor S., additional, Costa, Lais R., additional, Crossley, Beate M., additional, Davis, Jennifer L., additional, de Laat, Melody Anne, additional, Del Piero, Fabio, additional, Desrochers, André, additional, Dixon, Padraic Martin, additional, Dodd, Charles C., additional, Dominguez, Brandon J., additional, Dore, Vincent, additional, Duhamel, Gerald E., additional, Dunkel, Bettina, additional, Easley, Jack, additional, Ekenstedt, Kari J., additional, Ellis, John A., additional, Espinosa-Mur, Pablo, additional, Erskine, Ronald J., additional, E. Estell, Krista, additional, Evans, Timothy J., additional, Feary, Darien, additional, Fecteau, Gilles, additional, Fecteau, Marie-Eve, additional, Felippe, M. Julia B., additional, Fielding, C. Langdon, additional, Finno, Carrie J., additional, Fleming, Sherrill A., additional, Francoz, David, additional, Frank, Nicholas, additional, Fulton, Robert W., additional, Fultz, Lisa E., additional, Garland, Tam, additional, Garry, Franklyn, additional, Gemensky-Metzler, Anne J., additional, Gibbons, Philippa, additional, Giguère, Steeve, additional, Godden, Sandra, additional, Goff, Jesse Paul, additional, Gonda, Kathleen Casey, additional, Gonzalez, Liara M., additional, Grissett, Gretchen P., additional, Gunn, Alison A., additional, Gutierrez-Nibeyro, Santiago D., additional, Habasha, Faisal Ghazi, additional, Hall, Tiffany L., additional, Halland, Spring K., additional, Hallowell, Gayle D., additional, Hardy, Joanne, additional, Hart, Kelsey A., additional, Hartnack, Amanda K., additional, Heinrich, Daniel A., additional, Heller, Meera, additional, Herthel, Troy, additional, Hietala, Sharon K., additional, Hinchcliff, Kenneth W., additional, Hines, Melissa T., additional, House, John K., additional, Hovda, Lynn R., additional, Hughes, Angela M., additional, Hullinger, Pamela J., additional, Hund, Alexandra, additional, Hurley, David J., additional, James, Robert E., additional, John, Emily, additional, Johns, Jennifer L., additional, Johnson, Philip J., additional, Jones, Meredyth L., additional, Jones, Samuel L., additional, Jordan, Will C., additional, Judy, Carter E., additional, Katzman, Scott A., additional, Klein, Claudia, additional, Kreuder, Amanda J., additional, Lakritz, Jeffrey, additional, Landers, Benjamin, additional, Landolt, Gabriele A., additional, Lascola, Kara M., additional, Lassaline, Mary Elizabeth, additional, LeCouteur, Richard Andrew, additional, Lester, Guy D., additional, Leutenegger, Christian M., additional, Linton, Michelle, additional, Lofstedt, Jeanne, additional, Loinaz, Ricardo, additional, MacKay, Evelyn, additional, MacKay, Robert J., additional, Maclachlan, N. James, additional, Madigan, John E., additional, Magdesian, K. Gary, additional, Makhdoomi, Muhammad Muzafar, additional, Malone, John B., additional, Marsh, Peggy S., additional, Marshall, John F., additional, Martin, Krysta, additional, Mayo, Christie E., additional, Mazan, Melissa, additional, McArt, Jessica A., additional, McConnel, Craig, additional, McDowell, Karen, additional, McFarlane, Dianne, additional, McGill, Jodi L., additional, McGowan, Cathy, additional, McGuirk, Sheila M., additional, McNabb, Bret R., additional, Middleton, John R., additional, Millman, Suzanne T., additional, Morley, Paul S., additional, Mosier, Derek A., additional, Mostrom, Michelle, additional, Nagaraja, T.G., additional, Nichols, Sylvain, additional, Nielsen, Martin K., additional, Norman, Tracy E., additional, Norris, Jeffrey W., additional, Nydam, Daryl, additional, Oliver-Espinosa, Olimpo, additional, Parish, Steven M., additional, Pascoe, John R., additional, Payne, Michael, additional, Plummer, Caryn E., additional, Plummer, Paul J., additional, Poppenga, Robert H., additional, Pratt-Philips, Shannon E., additional, Puschner, Birgit, additional, Pusterla, Nicola, additional, Reef, Virginia B., additional, Renter, David G., additional, Reuss, Sarah M., additional, Reynolds, James P., additional, Romano, Sr., Juan E., additional, Ruegg, Pamela L., additional, Sager, Robert Bascom, additional, Sampson, Sarah N., additional, Sanchez, Chris, additional, Saulez, Montague N., additional, Schott, Harold C., additional, Sharkey, Leslie C., additional, Shearer, Jan K., additional, Slack, JoAnn, additional, Smith, Bradford P., additional, Smith, Geoffrey W., additional, Smith, Rachael L., additional, Spier, Sharon Jane, additional, Sponseller, Brett A., additional, Stämpfli, Henry, additional, St. Jean, Guy, additional, Stewart, Allison Jean, additional, Sweeney, Raymond W., additional, Swor, Tamara M., additional, Taylor, Jared D., additional, Tell, Lisa A., additional, Tennent-Brown, Brett, additional, Terra, Ronald L., additional, Théon, Alain P., additional, Tomlinson, Joy E., additional, Toribio, Ramiro E., additional, Troedsson, Mats H.T., additional, Tull, Travis M., additional, Uzal, Francisco A., additional, Valberg, Stephanie J., additional, Van Amstel, Sarel R., additional, Van Eps, Andrew W., additional, Van Metre, David C., additional, Varner, Dickson D., additional, Voyles, Meredith L., additional, Vygantas, Kristina R., additional, Walz, Paul, additional, Washburn, Kevin, additional, Waters, W. Ray, additional, Watkins, Jeffrey P., additional, Watson, Johanna L., additional, Watts, Ashlee E., additional, Weese, J. Scott, additional, White, Maurice Edward, additional, White, Stephen D., additional, Wilkins, Pamela A., additional, Williams, Jarred, additional, Williams, Kurt J., additional, Wilson, W. David, additional, Woodward, Elizabeth M., additional, Woolums, Amelia R., additional, and Wotman, Kathryn L., additional

Published
2020
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12. Diseases of the Bones, Joints, and Connective Tissues

Author

Coleman, Michelle C., primary, Whitfield-Cargile, Canaan, additional, Chesen, Berkley, additional, Williams, Jarred, additional, Romano, Juan E., additional, Hardy, Joanne, additional, MacKay, Evelyn, additional, Washburn, Kevin, additional, Sampson, Sarah N., additional, Gibbons, Phillippa, additional, Loinaz, Ricardo, additional, Reuss, Sarah M., additional, Chaffin, M. Keith, additional, Jones, Meredyth L., additional, Watts, Ashlee E., additional, Swor, Tamara M., additional, Hartnack, Amanda K., additional, Tull, Travis M., additional, Norman, Tracy E., additional, Watkins, Jeffrey P., additional, Jordan, Will C., additional, and Katzman, Scott A., additional

Published
2020
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16. Additional file 4 of Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Author

Ahearn, Thomas U., Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Lush, Michael, Wang, Qin, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, B��rresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Br��ning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Coll��e, J. Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, D��rk, Thilo, Dwek, Miriam, Eccles, Diana M., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M., Garc��a-S��enz, Jos�� A., Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., Gonz��lez-Neira, Anna, Aln��s, Grethe I. Grenaker, Grip, Mervi, Gu��nel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N., Kr��ger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W., Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G., Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, McLean, Catriona, Meindl, Alfons, Menon, Usha, Nevanlinna, Heli, Newman, William G., Nodora, Jesse, Offit, Kenneth, Olsson, H��kan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V., Peto, Julian, Pita, Guillermo, Plaseska-Karanfilska, Dijana, Prentice, Ross, Punie, Kevin, Pylk��s, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, R��diger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Schoemaker, Minouk J., Sch��ttker, Ben, Sherman, Mark E., Shu, Xiao-Ou, Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teras, Lauren R., Terry, Mary Beth, Torres, Diana, Troester, Melissa A., Vachon, Celine M., van Deurzen, Carolien H. M., van Veen, Elke M., Wagner, Philippe, Weinberg, Clarice R., Wendt, Camilla, Wesseling, Jelle, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Couch, Fergus J., Simard, Jacques, Kraft, Peter, Easton, Douglas F., Pharoah, Paul D. P., Schmidt, Marjanka K., Garc��a-Closas, Montserrat, and Chatterjee, Nilanjan

Subjects
Data_FILES
Abstract

Additional file 4. Funding and Acknowledgement. This file contains the additional funding not included in the main text, the acknowledgments, and the names of the people in the collaboration groups.

Published
2022
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19. COVID-19: Rapid antigen detection for SARS-CoV-2 by lateral flow assay: A national systematic evaluation of sensitivity and specificity for mass-testing

Author

Peto, Tim, primary, Affron, Dominic, additional, Afrough, Babak, additional, Agasu, Anita, additional, Ainsworth, Mark, additional, Allanson, Alison, additional, Allen, Katherine, additional, Allen, Collette, additional, Archer, Lorraine, additional, Ashbridge, Natasha, additional, Aurfan, Iman, additional, Avery, Miriam, additional, Badenoch, Ellena, additional, Bagga, Priya, additional, Balaji, Rishab, additional, Baldwin, Ella, additional, Barraclough, Sophie, additional, Beane, Carol, additional, Bell, John, additional, Benford, Tracy, additional, Bird, Susan, additional, Bishop, Marina, additional, Bloss, Angela, additional, Body, Richard, additional, Boulton, Rosie, additional, Bown, Abbie, additional, Bratten, Carla, additional, Bridgeman, Chris, additional, Britton, Dominic, additional, Brooks, Tim, additional, Broughton-Smith, Margaret, additional, Brown, Pauline, additional, Buck, Beverley, additional, Butcher, Elaine, additional, Byrne, Wendy, additional, Calderon, Gloria, additional, Campbell, Siobhan, additional, Carr, Olivia, additional, Carter, Penny, additional, Carter, Daniel, additional, Cathrall, Megan, additional, Catton, Matthew, additional, Chadwick, Jim, additional, Chapman, David, additional, Chau, Kevin K., additional, Chaudary, Tanzina, additional, Chidavaenzi, Shaolin, additional, Chilcott, Samatha, additional, Choi, Bea, additional, Claasen, Hannah, additional, Clark, Simon, additional, Clarke, Richard, additional, Clarke, Dawn, additional, Clayton, Richard, additional, Collins, Kayleigh, additional, Colston, Rima, additional, Connolly, James, additional, Cook, Eloïse, additional, Corcoran, Marie, additional, Corley, Ben, additional, Costello, Laura, additional, Coulson, Caroline, additional, Crook, Ant, additional, Crook, Derrick W., additional, D'Arcangelo, Silvia, additional, Darby, Mary-Anne, additional, Davis, John, additional, de Koning, Rosaline, additional, Derbyshire, Pauline, additional, Devall, Pam, additional, Dolman, Mark, additional, Draper, Natalie, additional, Driver, Mark, additional, Dyas, Sarah, additional, Eaton, Emily, additional, Edwards, Joy, additional, Elderfield, Ruth, additional, Ellis, Kate, additional, Ellis, Graham, additional, Elwell, Sue, additional, Evans, Rachel, additional, Evans, Becky, additional, Evans, Marion, additional, Evans, Ranoromanana, additional, Eyre, David, additional, Fahey, Codie, additional, Fenech, Vanessa, additional, Field, Janet, additional, Field, Alice, additional, Foord, Tom, additional, Fowler, Tom, additional, French, Mollie, additional, Fuchs, Hannah, additional, Gan, Jasmine, additional, Gernon, Joseph, additional, Ghadiali, Geeta, additional, Ghuman, Narindar, additional, Gibbons, Kerry, additional, Gill, Gurvinder, additional, Gilmour, Kate, additional, Goel, Anika, additional, Gordon, Sally, additional, Graham, Tillie, additional, Grassam-Rowe, Alexander, additional, Green, David, additional, Gronert, Anna, additional, Gumsley-Read, Tegan, additional, Hall, Claire, additional, Hallis, Bassam, additional, Hammond, Sally, additional, Hammond, Peter, additional, Hanney, Beth, additional, Hardy, Victoria, additional, Harker, Gabriella, additional, Harris, Andrew, additional, Havinden-Williams, May, additional, Hazell, Elena, additional, Henry, Joanne, additional, Hicklin, Kim, additional, Hollier, Kelly, additional, Holloway, Ben, additional, Hoosdally, Sarah J., additional, Hopkins, Susan, additional, Hughes, Lucy, additional, Hurdowar, Steve, additional, Hurford, Sally-Anne, additional, Jackman, Joanne, additional, Jackson, Harriet, additional, Johns, Ruth, additional, Johnston, Susan, additional, Jones, Juliet, additional, Kanyowa, Tinashe, additional, Keating-Fedders, Katie, additional, Kempson, Sharon, additional, Khan, Iftikhar, additional, Khulusi, Beinn, additional, Knight, Thomas, additional, Krishna, Anuradha, additional, Lahert, Patrick, additional, Lampshire, Zoe, additional, Lasserson, Daniel, additional, Lee, Kirsten, additional, Lee, Lennard Y.W., additional, Legard, Arabella, additional, Leggio, Cristina, additional, Liu, Justin, additional, Lockett, Teresa, additional, Logue, Christopher, additional, Lucas, Vanessa, additional, Lumley, Sheila F., additional, Maripuri, Vindhya, additional, Markham, Des, additional, Marshall, Emma, additional, Matthews, Philippa C., additional, Mckee, Sarah, additional, McKee, Deborah F., additional, McLeod, Neil, additional, McNulty, Antoinette, additional, Mellor, Freddie, additional, Michel, Rachel, additional, Mighiu, Alex, additional, Miller, Julie, additional, Mirza, Zarina, additional, Mistry, Heena, additional, Mitchell, Jane, additional, Moeser, Mika Erik, additional, Moore, Sophie, additional, Muthuswamy, Akhila, additional, Myers, Daniel, additional, Nanson, Gemma, additional, Newbury, Mike, additional, Nicol, Scott, additional, Nuttall, Harry, additional, Nwanaforo, Jewel Jones, additional, Oliver, Louise, additional, Osbourne, Wendy, additional, Osbourne, Jake, additional, Otter, Ashley, additional, Owen, Jodie, additional, Panchalingam, Sulaksan, additional, Papoulidis, Dimitris, additional, Pavon, Juan Dobaldo, additional, Peace, Arro, additional, Pearson, Karen, additional, Peck, Liam, additional, Pegg, Ashley, additional, Pegler, Suzannah, additional, Permain, Helen, additional, Perumal, Prem, additional, Peto, Leon, additional, Peto, Tim E.A., additional, Pham, Thanh, additional, Pickford, Hayleah L., additional, Pinkerton, Mark, additional, Platton, Michelle, additional, Price, Ashley, additional, Protheroe, Emily, additional, Purnell, Hellen, additional, Rawden, Lottie, additional, Read, Sara, additional, Reynard, Charles, additional, Ridge, Susan, additional, Ritter, Tom G., additional, Robinson, James, additional, Robinson, Patrick, additional, Rodger, Gillian, additional, Rowe, Cathy, additional, Rowell, Bertie, additional, Rowlands, Alexandra, additional, Sampson, Sarah, additional, Saunders, Kathryn, additional, Sayers, Rachel, additional, Sears, Jackie, additional, Sedgewick, Richard, additional, Seeney, Laura, additional, Selassie, Amanda, additional, Shail, Lloyd, additional, Shallcross, Jane, additional, Sheppard, Lucy, additional, Sherkat, Anna, additional, Siddiqui, Shelha, additional, Sienkiewicz, Alex, additional, Sinha, Lavanya, additional, Smith, Jennifer, additional, Smith, Ella, additional, Stanton, Emma, additional, Starkey, Thomas, additional, Stawiarski, Aleksander, additional, Sterry, Amelia, additional, Stevens, Joe, additional, Stockbridge, Mark, additional, Stoesser, Nicole, additional, Sukumaran, Anila, additional, Sweed, Angela, additional, Tatar, Sami, additional, Thomas, Hema, additional, Tibbins, Carly, additional, Tiley, Sian, additional, Timmins, Julie, additional, Tomas-Smith, Cara, additional, Topping, Oliver, additional, Turek, Elena, additional, Neibler, Toi, additional, Trigg-Hogarth, Kate, additional, Truelove, Elizabeth, additional, Turnbull, Chris, additional, Tyrrell, David, additional, Vaughan, Alison, additional, Vertannes, John, additional, Vipond, Richard, additional, Wagstaff, Linda, additional, Waldron, Joanne, additional, Walker, Philip, additional, Walker, Ann Sarah, additional, Walters, Mary, additional, Wang, Jenny Y, additional, Watson, Ellie, additional, Webberley, Kate, additional, Webster, Kimerbley, additional, Westland, Grace, additional, Wickens, Ian, additional, Willcocks, Jane, additional, Willis, Herika, additional, Wilson, Stephen, additional, Wilson, Barbara, additional, Woodhead, Louise, additional, Wright, Deborah, additional, Xavier, Bindhu, additional, Yelnoorkar, Fiona, additional, Zeidan, Lisa, additional, and Zinyama, Rangeni, additional

Published
2021
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20. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author

Zhang, Haoyu, Ahearn, Thomas U, Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Jiang, Xia, O'Mara, Tracy A, Zhao, Ni, Bolla, Manjeet K, Dunning, Alison M, Dennis, Joe, Wang, Qin, Ful, Zumuruda Abu, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Auer, Paul L, Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byers, Helen, Caldés, Trinidad, Caligo, Maria A, Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, Cornelissen, Sten, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Diez, Orland, Domchek, Susan M, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Häberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Hake, Christopher R, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette AM, Hillemanns, Peter, Hogervorst, Frans BL, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, Huebner, Hanna, Hulick, Peter J, Imyanitov, Evgeny N, kConFab Investigators, ABCTB Investigators, Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y, Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B, Koutros, Stella, Kristensen, Vessela N, Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C, Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T, Lubinski, Jan, Lukomska, Alicja, MacInnis, Robert J, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Neven, Patrick, Newman, William G, Nielsen, Finn C, Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T, Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Rennert, Gad, Rennert, Hedy S, Risch, Harvey A, Romero, Atocha, Rookus, Matti A, Rübner, Matthias, Rüdiger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P, Sawyer, Elinor J, Scheuner, Maren T, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, Schöttker, Ben, Schürmann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E, Shu, Xiao-Ou, Singer, Christian F, Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Stone, Jennifer, Stoppa-Lyonnet, Dominique, EMBRACE Study, GEMO Study Collaborators, Swerdlow, Anthony J, Szabo, Csilla I, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teixeira, Manuel R, Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob AEM, Tomlinson, Ian, Torres, Diana, Troester, Melissa A, Truong, Thérèse, Tung, Nadine, Untch, Michael, Vachon, Celine M, van den Ouweland, Ans MW, van der Kolk, Lizet E, van Veen, Elke M, vanRensburg, Elizabeth J, Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K, Milne, Roger L, Kraft, Peter, Simard, Jacques, Pharoah, Paul DP, Michailidou, Kyriaki, Antoniou, Antonis C, Schmidt, Marjanka K, Chenevix-Trench, Georgia, Easton, Douglas F, Chatterjee, Nilanjan, García-Closas, Montserrat, Barnes, Daniel [0000-0002-3781-7570], O'Mara, Tracy A [0000-0002-5436-3232], Dunning, Alison M [0000-0001-6651-7166], Dennis, Joe [0000-0003-4591-1214], Andrulis, Irene L [0000-0002-4226-6435], Arndt, Volker [0000-0001-9320-8684], Azzollini, Jacopo [0000-0002-9364-9778], Bojesen, Stig E [0000-0002-4061-4133], Bonanni, Bernardo [0000-0003-3589-2128], Brauch, Hiltrud [0000-0001-7531-2736], Caldés, Trinidad [0000-0002-1038-5392], Calvello, Mariarosaria [0000-0003-2113-8503], Chanock, Stephen J [0000-0002-2324-3393], Claes, Kathleen BM [0000-0003-0841-7372], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Dwek, Miriam [0000-0001-7184-2932], Ekici, Arif B [0000-0001-6099-7066], Fasching, Peter A [0000-0003-4885-8471], García-Sáenz, José A [0000-0001-6880-0301], Gayther, Simon A [0000-0001-7937-5443], Giles, Graham G [0000-0003-4946-9099], Greene, Mark H [0000-0003-1852-9239], Guénel, Pascal [0000-0002-8359-518X], Harkness, Elaine F [0000-0001-6625-7739], Heemskerk-Gerritsen, Bernadette AM [0000-0002-9724-6693], Hollestelle, Antoinette [0000-0003-1166-1966], Huebner, Hanna [0000-0001-6889-1493], Hulick, Peter J [0000-0001-8397-4078], Jakimovska, Milena [0000-0002-1506-0669], Jakubowska, Anna [0000-0002-5650-0501], James, Paul [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Konstantopoulou, Irene [0000-0002-0470-0309], Larsson, Susanna C [0000-0003-0118-0341], Laurent-Puig, Pierre [0000-0001-8475-5459], Leslie, Goska [0000-0001-5756-6222], Lesueur, Fabienne [0000-0001-7404-4549], Lissowska, Jolanta [0000-0003-2695-5799], Matricardi, Laura [0000-0002-0241-1810], McLean, Catriona [0000-0002-0302-5727], Menon, Usha [0000-0003-3708-1732], Miller, Austin [0000-0001-9739-8462], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Newman, William G [0000-0002-6382-4678], Olopade, Olufunmilayo I [0000-0002-9936-1599], Orr, Nick [0000-0003-2866-942X], Parsons, Michael T [0000-0003-3242-8477], Peshkin, Beth [0000-0002-2997-4701], Peterlongo, Paolo [0000-0001-6951-6855], Peto, Julian [0000-0002-1685-8912], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Radice, Paolo [0000-0001-6298-4111], Rennert, Gad [0000-0002-8512-068X], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Stone, Jennifer [0000-0001-5077-0124], Teixeira, Manuel R [0000-0002-4896-5982], Toland, Amanda E [0000-0002-0271-1792], Tomlinson, Ian [0000-0003-3037-1470], van Veen, Elke M [0000-0001-8618-2332], vanRensburg, Elizabeth J [0000-0003-2077-230X], Weitzel, Jeffrey N [0000-0001-6714-092X], Winqvist, Robert [0000-0003-0932-9104], Wolk, Alicja [0000-0001-7387-6845], Yannoukakos, Drakoulis [0000-0001-7509-3510], Zheng, Wei [0000-0003-1226-070X], Milne, Roger L [0000-0001-5764-7268], Kraft, Peter [0000-0002-4472-8103], Simard, Jacques [0000-0001-6906-3390], Pharoah, Paul DP [0000-0001-8494-732X], Michailidou, Kyriaki [0000-0001-7065-1237], Schmidt, Marjanka K [0000-0002-2228-429X], Easton, Douglas F [0000-0003-2444-3247], Chatterjee, Nilanjan [0000-0002-9060-008X], García-Closas, Montserrat [0000-0003-1033-2650], and Apollo - University of Cambridge Repository

Subjects
BRCA1 Protein, Case-Control Studies, Mutation, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Triple Negative Breast Neoplasms, Linkage Disequilibrium, Genome-Wide Association Study
Abstract

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P

Published
2020

23. • Chapter 38 - Diseases of the Bones, Joints, and Connective Tissues

Author

Coleman, Michelle C., Whitfield-Cargile, Canaan, Chesen, Berkley, Williams, Jarred, Romano, Juan E., Sr., Hardy, Joanne, MacKay, Evelyn, Washburn, Kevin, Sampson, Sarah N., Gibbons, Phillippa, Loinaz, Ricardo, Reuss, Sarah M., Chaffin, M. Keith, Jones, Meredyth L., Watts, Ashlee E., Swor, Tamara M., Hartnack, Amanda K., Tull, Travis M., Norman, Tracy E., Watkins, Jeffrey P., Jordan, Will C., and Katzman, Scott A.

Published
2020
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25. Breast Cancer Risk Stratification in Women of Screening Age: Incremental Effects of Adding Mammographic Density, Polygenic Risk and a Gene Panel

Author

Evans, D. Gareth R., primary, van Veen, Elke M., additional, Harkness, Elaine F., additional, Brentnall, Adam R., additional, Astley, Susan M., additional, Byers, Helen, additional, Woodward, Emma R., additional, Sampson, Sarah, additional, Southworth, Jake, additional, Howell, Sacha J., additional, Maxwell, Anthony J., additional, Newman, William G., additional, Cuzick, Jack, additional, and Howell, Anthony, additional

Published
2021
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28. Contributors

Author

Auer, Jörg A., primary, Bagby, George W., additional, Bailey, Jeremy V., additional, Bettschart-Wolfensberger, Regula, additional, Blackford, James T., additional, Blackford, LeeAnn W., additional, Blikslager, Anthony T., additional, Bohner, Marc, additional, Bramlage, Larry R., additional, Brooks, Dennis E., additional, Buchner, H.H. Florian, additional, Burba, Daniel J., additional, Cantwell, Shauna L., additional, Carr, Elizabeth A., additional, Dallap Schaer, Barbara L., additional, Davis, Charlotte S., additional, DeBowes, Richard M., additional, Derksen, Frederick J., additional, Disegi, John, additional, Dixon, Padraic M., additional, Ducharme, Norman G., additional, Dziezyc, Joan, additional, Eades, Susan C., additional, Embertson, Rolf M., additional, Fischer, Andrew T., additional, Fortier, Lisa A., additional, Freeman, David E., additional, Frisbie, David D., additional, Fu¨rst, Anton E., additional, Gerard, Mathew P., additional, Gilger, Brian C., additional, Grant, Barrie D., additional, Hardy, Joanne, additional, Hendrickson, Dean A., additional, Holcombe, Susan J., additional, Hottiger, Michael O., additional, Jamieson, Vivian E., additional, Kaser-Hotz, Barbara, additional, Léveillé, Renée, additional, Lillich, James D., additional, Lischer, Christophorus J., additional, Lopez, Mandi J., additional, Lugo, Joel, additional, MacKay, Robert J., additional, Markel, Mark D., additional, Miller, Thomas R., additional, Millichamp, Nicholas J., additional, Moore, Rustin M., additional, Nasisse, Mark P., additional, Nickels, Frank A., additional, Nixon, Alan J., additional, Parente, Eric J., additional, Peloso, John G., additional, Rakestraw, Peter C., additional, Richardson, Dean W., additional, Rijkenhuizen, Astrid B.M., additional, Robertson, James T., additional, Robertson, Sheilah A., additional, Ruggles, Alan J., additional, Rush, Bonnie R., additional, Samii, Valerie F., additional, Sampson, Sarah N., additional, Schneider, Robert K., additional, Schumacher, James, additional, Schu¨tte, Anja C., additional, Smith, Roger K.W., additional, Spiess, Bernhard M., additional, Stick, John A., additional, Tate, Lloyd P., additional, Theoret, Christine L., additional, Tucker, Russell L., additional, Ueltschi, Gottlieb, additional, Valverde, Alexander, additional, van Weeren, P. René, additional, von Rechenberg, Brigitte, additional, Waguespack, R. Wayne, additional, Watkins, Jeffrey P., additional, Weishaupt, Michael A., additional, Wilson, David A., additional, and Woodie, Brett, additional

Published
2006
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31. Common breast cancer risk loci predispose to distinct tumor subtypes

Author

Ahearn, Thomas U., Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Lush, Michael, Wang, Qin, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Collée, J. Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, GrenakerAlnæs, Grethe I., Grip, Mervi, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Torres, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A.M., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N., Krüger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W., Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G., Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, McLean, Catriona, Meindl, Alfons, Menon, Usha, Nevanlinna, Heli, Newman, William G., Nodora, Jesse, Offit, Kenneth, Olsson, Håkan, Orr, Nick, Park-Simon, Tjoung-Won, Peto, Julian, Pita, Guillermo, Plaseska-Karanfilska, Dijana, Prentice, Ross, Punie, Kevin, Pylkäs, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, Rüdiger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Schoemaker, Minouk J., Schöttker, Ben, Sherman, Mark E., Shu, Xiao-Ou, Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, MaryBeth, Torres, Diana, Troester, Melissa A., Vachon, Celine M., van Deurzen, Carolien H.M., van Veen, Elke M., Wagner, Philippe, Weinberg, Clarice R., Wendt, Camilla, Wesseling, Jelle, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Couch, Fergus J., Simard, Jacques, Kraft, Peter, Easton, Douglas F., Pharoah, Paul D.P., Schmidt, Marjanka K., García-Closas, Montserrat, and Chatterjee, Nilanjan

Abstract

Background Genome-wide association studies have identified over 170 common breast cancer susceptibility variants, many of them with differential associations by estrogen receptor (ER). How these variants are related to other tumor features is unclear. Methods Analyses included 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 178 genotyped or imputed single nucleotide polymorphisms (SNPs). We used two-stage polytomous logistic regression models to evaluate SNPs in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes. Results Nearly half of the SNPs (85 of 178) were associated with at least one tumor feature (false discovery rate

Published
2019
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34. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author

Zhan, Haoyu, Ahearn, Thomas U., Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Hang, Xia, O'Mara, Tracy A., Zhao, Ni, Bolla, Manjeet K., Dunning, Alison M., Dennis, Joe, Wang, Qin, Abu Ful, Zumuruda, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auer, Paul L., Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byers, Helen, Caldes, Trinidad, Caligo, Maria A., Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Domchek, Susan M., Doerk, Thilo, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hake, Christopher R., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huebner, Hanna, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B., Koutros, Stella, Kristensen, Vessela N., Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C., Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, Maclnnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsens, Finn C., Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Risch, Harvey A., Romero, Atocha, Rookus, Matti A., Ruebner, Matthias, Ruediger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Scheuner, Maren T., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E., Shu, Xiao-Ou, Singer, Christian F., Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony J., Szabo, Csilla, I, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M. W., van der Kolk, Lizet E., van Veen, Elke M., vanRensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K., Milne, Roger L., Kraft, Peter, Simard, Jacques, Pharoah, Paul D. P., Michailidou, Kyriaki, Antoniou, Antonis C., Schmidt, Marjanka K., Chenevix-Trench, Georgia, Easton, Douglas F., Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Zhan, Haoyu, Ahearn, Thomas U., Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Hang, Xia, O'Mara, Tracy A., Zhao, Ni, Bolla, Manjeet K., Dunning, Alison M., Dennis, Joe, Wang, Qin, Abu Ful, Zumuruda, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auer, Paul L., Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byers, Helen, Caldes, Trinidad, Caligo, Maria A., Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Domchek, Susan M., Doerk, Thilo, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hake, Christopher R., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huebner, Hanna, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B., Koutros, Stella, Kristensen, Vessela N., Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C., Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, Maclnnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsens, Finn C., Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Risch, Harvey A., Romero, Atocha, Rookus, Matti A., Ruebner, Matthias, Ruediger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Scheuner, Maren T., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E., Shu, Xiao-Ou, Singer, Christian F., Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony J., Szabo, Csilla, I, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M. W., van der Kolk, Lizet E., van Veen, Elke M., vanRensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K., Milne, Roger L., Kraft, Peter, Simard, Jacques, Pharoah, Paul D. P., Michailidou, Kyriaki, Antoniou, Antonis C., Schmidt, Marjanka K., Chenevix-Trench, Georgia, Easton, Douglas F., Chatterjee, Nilanjan, and Garcia-Closas, Montserrat

Abstract

Genome-wide analysis identifies 32 loci associated with breast cancer susceptibility, accounting for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype(1-3). To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 x 10(-8)), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.

Published
2020
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37. Prospective Evaluation of a Breast Cancer Risk Model Integrating Classical Risk Factors and Polygenic Risk in 15 Cohorts from Six Countries

Author

Wilcox, Amber N, primary, Choudhury, Parichoy Pal, additional, Gao, Chi, additional, Hüsing, Anika, additional, Eriksson, Mikael, additional, Shi, Min, additional, Scott, Christopher, additional, Carter, Brian D, additional, Martin, Kara, additional, Harkness, Elaine, additional, Brook, Mark N, additional, Ahearn, Thomas U, additional, Mavaddat, Nasim, additional, Antoniou, Antonis C, additional, Chang-Claude, Jenny, additional, Simard, Jacques, additional, Jones, Michael E, additional, Orr, Nick, additional, Schoemaker, Minouk J, additional, Swerdlow, Anthony J, additional, Sampson, Sarah, additional, Newman, William G, additional, van Veen, Elke M, additional, Evans, D. Gareth R, additional, MacInnis, Robert J, additional, Giles, Graham G, additional, Southey, Melissa, additional, Milne, Roger L, additional, Gapstur, Susan M, additional, Gaudet, Mia M, additional, Winham, Stacey J, additional, Brandt, Kathy, additional, Norman, Aaron, additional, Vachon, Celine M, additional, Sandler, Dale P, additional, Weinberg, Clarice R, additional, Czene, Kamila, additional, Gabrielson, Marike, additional, Hall, Per, additional, van Gils, Carla H, additional, Khaw, Kay-Tee, additional, Barrdahl, Myrto, additional, Kaaks, Rudolf, additional, Ridker, Paul M, additional, Buring, Julie E, additional, Chasman, Dan I, additional, Easton, Douglas F, additional, Schmidt, Marjanka K, additional, Kraft, Peter, additional, Garcia-Closas, Montserrat, additional, and Chatterjee, Nilanjan, additional

Published
2019
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40. A case–control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density

Author

Brentnall, Adam R., primary, Veen, Elke M., additional, Harkness, Elaine F., additional, Rafiq, Sajjad, additional, Byers, Helen, additional, Astley, Susan M., additional, Sampson, Sarah, additional, Howell, Anthony, additional, Newman, William G., additional, Cuzick, Jack, additional, and Evans, Dafydd Gareth R., additional

Published
2019
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41. Ultrasound‐assisted injection of the centrodistal joint in the horse.

Author

Jarosinski, Sarah K., Sampson, Sarah N., and Russell, Lauren

Abstract

Background: Injection of the centrodistal (CD) joint in the horse is a commonly performed procedure for both diagnostic and therapeutic purposes. This procedure can be technically challenging, and while radiographic guidance has been previously used, ultrasound localised injection of the CD joint has not been described. Objectives: The purpose of this study was to explore the feasibility of using ultrasound localisation to increase the accuracy of CD joint injection. Study design: Experimental method assessment. Methods: One operator performed the ultrasound and injection of 24 CD joints in 12 sedated horses. The joints were injected with iohexol (2 ml), sterile saline (1.5 ml) and amikacin (0.5 ml). Dorsoplantar and dorsomedial plantarolateral radiographic projections were obtained immediately after injection to evaluate the presence of contrast material in the CD joint. Results: The CD joint was successfully injected in 17/24 joints, representing a 70.8% accuracy. Main limitations: The horses used in this study were from the University research herd, and not clinical cases. One investigator performed all the ultrasonography and CD joint injections. Conclusions: The use of ultrasound localisation could improve success of CD joint injection as well as improve the learning curve of less experienced practitioners learning this procedure. [ABSTRACT FROM AUTHOR]

Published
2021
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43. A case–control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density.

Author

Brentnall, Adam R., van Veen, Elke M., Harkness, Elaine F., Rafiq, Sajjad, Byers, Helen, Astley, Susan M., Sampson, Sarah, Howell, Anthony, Newman, William G., Cuzick, Jack, and Evans, Dafydd Gareth R.

Subjects
SINGLE nucleotide polymorphisms, BREAST cancer, HORMONE receptor positive breast cancer, RISK assessment, DENSITY
Abstract

Panels of single nucleotide polymorphisms (SNPs) stratify risk for breast cancer in women from the general population, but studies are needed assess their use in a fully comprehensive model including classical risk factors, mammographic density and more than 100 SNPs associated with breast cancer. A case–control study was designed (1,668 controls, 405 cases) in women aged 47–73 years attending routine screening in Manchester UK, and enrolled in a wider study to assess methods for risk assessment. Risk from classical questionnaire risk factors was assessed using the Tyrer–Cuzick model; mean percentage visual mammographic density was scored by two independent readers. DNA extracted from saliva was genotyped at selected SNPs using the OncoArray. A predefined polygenic risk score based on 143 SNPs was calculated (SNP143). The odds ratio (OR, and 95% confidence interval, CI) per interquartile range (IQ‐OR) of SNP143 was estimated unadjusted and adjusted for Tyrer–Cuzick and breast density. Secondary analysis assessed risk by oestrogen receptor (ER) status. The primary polygenic risk score was well calibrated (O/E OR 1.10, 95% CI 0.86–1.34) and accuracy was retained after adjustment for Tyrer–Cuzick risk and mammographic density (IQ‐OR unadjusted 2.12, 95% CI% 1.75–2.42; adjusted 2.06, 95% CI 1.75–2.42). SNP143 was a risk factor for ER+ and ER− breast cancer (adjusted IQ‐OR, ER+ 2.11, 95% CI 1.78–2.51; ER− 1.81, 95% CI 1.16–2.84). In conclusion, polygenic risk scores based on a large number of SNPs improve risk stratification in combination with classical risk factors and mammographic density, and SNP143 was similarly predictive for ER‐positive and ER‐negative disease. What's new? Panels of single nucleotide polymorphisms (SNPs) stratify risk for breast cancer in women from the general population, but studies are needed to assess their use in a fully‐comprehensive model including classical questionnaire risk factors, mammographic density, and more than 100 SNPs associated with breast cancer. In this study, the predictive ability of a predefined panel of 143 SNPs was assessed after adjustment for questionnaire risk factors and mammography density using women from a U.K. cohort. The panel showed substantial improvement in risk stratification in combination with classical risk factors and mammographic density, for both oestrogen receptor‐positive and negative breast cancer. [ABSTRACT FROM AUTHOR]

Published
2020
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47. Breast cancer risk in a screening cohort of Asian and white British/Irish women from Manchester UK

Author

Evans, D. Gareth, primary, Brentnall, Adam R., additional, Harvie, Michelle, additional, Astley, Susan, additional, Harkness, Elaine F., additional, Stavrinos, Paula, additional, Donnelly, Louise S., additional, Sampson, Sarah, additional, Idries, Faiza, additional, Watterson, Donna, additional, Cuzick, Jack, additional, Wilson, Mary, additional, Jain, Anil, additional, Harrison, Fiona, additional, Maxwell, Anthony J., additional, and Howell, Anthony, additional

Published
2018
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49. Comparison of limited-contact dynamic compression plate and locking compression plate constructs for proximal interphalangeal joint arthrodesis in the horse

Author

Rocconi, Richard A., Carmalt, James L., Sampson, Sarah N., Elder, Steve H., and Gilbert, Eric E.

Subjects
Male, Forelimb, Cadaver, Animals, Arthrodesis, Scientific, Female, Joints, Horses, Bone Plates
Abstract

This study compared in vitro monotonic and cyclic mechanical properties of equine proximal interphalangeal joint arthrodeses stabilized using an open or closed technique combined with axial 4.5 mm narrow limited-contact dynamic compression plate (LC-DCP) or 4.5 mm narrow locking compression plate (LCP). Ten forelimb pairs were randomly assigned to LCP or LC-DCP groups. One limb in each pair was assigned to either open or closed technique. Limbs were tested for cyclic fatigue at 20 000 cycles and then single-cycle to failure under 3-point dorsopalmar bending. There was no significant difference in stiffness of constructs during cyclic fatigue testing or on force or stiffness at failure in single cycle to failure testing between open and closed techniques or between plate types. Both implants, surgical technique, or combinations thereof are suitable for clinical use. More work is necessary to define the interaction between implant type and surgical technique.

Published
2015

50. Additional file 1: Appendix 1. of Mammographic density adds accuracy to both the Tyrer-Cuzick and Gail breast cancer risk models in a prospective UK screening cohort

Author

Brentnall, Adam, Harkness, Elaine, Astley, Susan, Donnelly, Louise, Stavrinos, Paula, Sampson, Sarah, Fox, Lynne, Sergeant, Jamie, Harvie, Michelle, Wilson, Mary, Beetles, Ursula, Soujanya Gadde, Yit Lim, Jain, Anil, Bundred, Sara, Barr, Nicola, Reece, Valerie, Howell, Anthony, Cuzick, Jack, and D. Evans

Subjects
body regions
Abstract

Density residual: description of methods. Appendix 2: Table S1. Univariate and multivariate performance of breast density and the Tyrer-Cuzick and Gail risk models, subgroup analysis by time of cancer diagnosis. (PDF 396 kb)

Published
2015
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