Browse by All Cardiff Authors

2023. Relationship between 233 colorectal cancer risk loci and survival in 1,926 patients with advanced disease. BJC Reports 1 , 2. 10.1038/s44276-023-00003-z

Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy

, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard and Peters, Ulrike 2023. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nature Genetics 55 , 519–520. 10.1038/s41588-023-01334-w

Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martin-Sanchez, Vicente, Moratalla-Navarro, Ferran, Hwan Oh, Jae, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy

, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Bohm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hanninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann and Slattery, Martha 2022. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and East Asian ancestries. Nature Genetics 10.1038/s41588-022-01222-9

Watts, Katie, Wills, Christopher, Madi, Ayman, Palles, Claire, Maughan, Timothy S., Kaplan, Richard, Al-Tassan, Nada A., Kerr, Rachel, Kerr, David J., Houlston, Richard S., Escott-Price, Valentina

2022. Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome. International Journal of Cancer 151 (6) , pp. 957-966. 10.1002/ijc.34046

Wills, Christopher, He, Yazhou, Summers, Matthew G., Lin, Yi, Phipps, Amanda I., Watts, Katie, Law, Philip J., Al-Tassan, Nada A., Maughan, Timothy S., Kaplan, Richard, Houlston, Richard S., Peters, Ulrike, Newcomb, Polly A., Chan, Andrew T., Buchanan, Daniel D., Gallinger, Steve, Marchand, Loic L., Pai, Rish K., Shi, Qian, Alberts, Steven R., Gray, Victoria, West, Hannah D.

, Escott-Price, Valentina

, Dunlop, Malcolm G. and Cheadle, Jeremy

2021. Genome-wide search for determinants of survival in 1,926 patients with advanced colorectal cancer with follow-up in over 22,000 patients. European Journal Of Cancer 159 , pp. 247-258. 10.1016/j.ejca.2021.09.047
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Watts, Katie, Wills, Christopher, Madi, Ayman, Palles, Claire, Maughan, Timothy S., Kaplan, Richard, Al-Tassan, Nada A., Kerr, Rachel, Kerr, David, Gray, Victoria, West, Hannah

, Houlston, Richard S., Escott-Price, Valentina

2021. Genome-wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer. International Journal of Cancer 149 (9) , pp. 1713-1722. 10.1002/ijc.33739

Culliford, Richard, Cornish, Alex J., Law, Philip J., Farrington, Susan M., Palin, Kimmo, Jenkins, Mark A., Casey, Graham, Hoffmeister, Michael, Brenner, Hermann, Chang-Claude, Jenny, Kirac, Iva, Maughan, Tim, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P.

, Aaltonen, Lauri A., Dunlop, Malcom G. and Soulston, Richard S. 2021. Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: A Mendelian randomisation analysis. British Journal of Cancer 124 , pp. 1169-1174. 10.1038/s41416-020-01211-x

Cornish, Alex J., Law, Philip J., Timofeeva, Maria, Palin, Kimmo, Farrington, Susan M., Palles, Claire, Jenkins, Mark A., Casey, Graham, Brenner, Hermann, Chang-Claude, Jenny, Hoffmeister, Michael, Kirac, Iva, Maughan, Tim, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P.

, Aaltonen, Lauri A., Tomlinson, Ian, Dunlop, Malcolm G. and Houlston, Richard S. 2020. Modifiable pathways for colorectal cancer: a mendelian randomisation analysis. Lancet Gastroenterology and Hepatology 5 (1) , pp. 55-62. 10.1016/S2468-1253(19)30294-8

Summers, Matthew G.

, Maughan, Timothy S., Kaplan, Richard, Law, Philip J., Houlston, Richard S., Escott-Price, Valentina

2020. Comprehensive analysis of colorectal cancer-risk loci and survival outcome: a prognostic role for CDH1 variants. European Journal Of Cancer 124 , pp. 56-63. 10.1016/j.ejca.2019.09.024

Gray, Victoria, Briggs, Sarah, Palles, Claire, Jaegar, Emma, Iveson, Timothy, Kerr, Rachel, Saunders, Mark P., Paul, James, Harkin, Andrea, McQueen, John, Summers, Matthew G., Johnstone, Elaine, Wang, Haitao, Gatcombe, Laura, Maughan, Timothy S., Kaplan, Richard, Escott-Price, Valentina

, Al-Tassan, Nada A., Meyer, Brian F., Wakil, Salma M., Houlston, Richard S., Cheadle, Jeremy P.

, Tomlinson, Ian and Church, David N. 2019. Pattern recognition receptor polymorphisms as predictors of oxaliplatin benefit in colorectal cancer. JNCI: Journal of the National Cancer Institute 111 (8) , pp. 828-836. 10.1093/jnci/djy215

Law, Philip J., Timofeeva, Maria, Fernandez-Rozadilla, Ceres, Broderick, Peter, Studd, James, Fernandez-Tajes, Juan, Farrington, Susan, Svinti, Victoria, Palles, Claire, Orlando, Giulia, Sud, Amit, Holroyd, Amy, Penegar, Steven, Theodoratou, Evropi, Vaughan-Shaw, Peter, Campbell, Harry, Zgaga, Lina, Hayward, Caroline, Campbell, Archie, Harris, Sarah, Deary, Ian J., Starr, John, Gatcombe, Laura, Pinna, Maria, Briggs, Sarah, Martin, Lynn, Jaeger, Emma, Sharma-Oates, Archana, East, James, Leedham, Simon, Arnold, Roland, Johnstone, Elaine, Wang, Haitao, Kerr, David, Kerr, Rachel, Maughan, Tim, Kaplan, Richard, Al-Tassan, Nada, Palin, Kimmo, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Buchanan, Daniel D., Win, Aung-Ko, Hopper, John, Jenkins, Mark E., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Duggan, David, Casey, Graham, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Easton, Douglas F., Pharoah, Paul D. P., Peto, Julian, Canzian, Federico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, Zsofia, Muir, Kenneth, Pashayan, Nora, Harkin, Andrea, Allan, Karen, McQueen, John, Paul, James, Iveson, Timothy, Saunders, Mark, Butterbach, Katja, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Kirac, Iva, Matošević, Petar, Hofer, Philipp, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P.

, Aaltonen, Lauri A., Tomlinson, Ian, Houlston, Richard S. and Dunlop, Malcolm G. 2019. Association analyses identify 31 new risk loci for colorectal cancer susceptibility. Nature Communications 10 , 2154. 10.1038/s41467-019-09775-w

West, Hannah

, Coffey, Michelle, Wagner, Michael J., McLeod, Howard L., Colley, James P., Adams, Richard A.

, Fleck, Oliver, Maughan, Timothy S., Fisher, David, Kaplan, Richard S., Harris, Rebecca and Cheadle, Jeremy P.

2018. Role for nucleotide excision repair gene variants in oxaliplatin-induced peripheral neuropathy. JCO Precision Oncology 2 , pp. 1-18. 10.1200/PO.18.00090

Madi, A., Fisher, D., Maughan, T. S., Colley, J. P., Meade, A. M., Maynard, J., Humphreys, V., Wasan, H., Adams, R. A.

, Idziaszczyk, S., Harris, R., Kaplan, R. S. and Cheadle, J. P.

2018. Common and rare DPYD variants are predictive for 5FU/capecitabine (5FU) toxicity: The MRC COIN and COIN-B trials. Presented at: 43rd ESMO Congress 2018, Munich, Germany, 19-23 October 2018. Annals of Oncology. , vol.29 (Supple) Oxford University Press, VIII22. 10.1093/annonc/mdy269.072

Madi, Ayman, Fisher, David, Maughan, Timothy S., Colley, James P., Meade, Angela M., Maynard, Julie, Humphreys, Vikki, Wasan, Harpreet, Adams, Richard A.

, Idziaszczyk, Shelley, Harris, Rebecca, Kaplan, Richard S. and Cheadle, Jeremy P.

2018. Pharmacogenetic analyses of 2,183 patients with advanced colorectal cancer; Potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy. European Journal of Cancer 102 , pp. 31-39. 10.1016/j.ejca.2018.07.009

Tanskanen, Tomas, van den Berg, Linda, Välimäki, Niko, Aavikko, Mervi, Ness-Jensen, Eivind, Hveem, Kristian, Wettergren, Yvonne, Bexe Lindskog, Elinor, Tõnisson, Neeme, Metspalu, Andres, Silander, Kaisa, Orlando, Giulia, Law, Philip J., Tuupanen, Sari, Gylfe, Alexandra E., Hänninen, Ulrika A., Cajuso, Tatiana, Kondelin, Johanna, Sarin, Antti-Pekka, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Tim S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung K., Hopper, John, Jenkins, Mark A., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fredrick R., Casey, Graham, Cheadle, Jeremy P.

, Dunlop, Malcolm G., Tomlinson, Ian P., Houlston, Richard S., Palin, Kimmo and Aaltonen, Lauri A. 2018. Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. International Journal of Cancer 142 (3) , pp. 540-546. 10.1002/ijc.31076

May-Wilson, Sebastian, Sud, Amit, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Fisher, David, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy P.

, Tomlinson, Ian P., Dunlop, Malcolm G. and Houlston, Richard S. 2017. Pro-inflammatory fatty acid profile and colorectal cancer risk: a Mendelian randomisation analysis. European Journal of Cancer 84 , pp. 228-238. 10.1016/j.ejca.2017.07.034

Summers, Matthew

, Smith, Chris, Maughan, Timothy, Kaplan, Rick, Escott-Price, Valentina

2017. BRAF and NRAS locus-specific variants have different outcomes on survival to colorectal cancer. Clinical Cancer Research 23 (11) , pp. 2742-2749. 10.1158/1078-0432.CCR-16-1541

Rodriguez-Broadbent, Henry, Law, Philip J., Sud, Amit, Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Ripatti, Samuli, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy Peter

, Tomlinson, Ian P., Dunlop, Malcolm G. and Houlston, Richard S. 2017. Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer. International Journal of Cancer 140 (12) , pp. 2701-2708. 10.1002/ijc.30709

Madi, Ayman, Fisher, David, Maughan, Timothy S., Colley, James P., Meade, Angela M., Tejpar, Sabine, Vam den Bosch, Ben, Maynard, Julie, Humphreys, Vikki, Wasan, Harpreet, Adams, Richard A.

, Idziaszczyk, Shelley, Harris, Rebecca, Kaplan, Richard S. and Cheadle, Jeremy P.

2017. Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab. Journal of Medical Genetics 54 (8) , pp. 567-571. 10.1136/jmedgenet-2016-104317

Seligmann, J.F., Fisher, D., Smith, C. G., Richman, S.D., Elliott, F., Brown, S., Adams, Richard

, Maughan, T., Quirke, P., Cheadle, Jeremy

, Seymour, M. and Middleton, G. 2017. Investigating the poor outcomes of BRAF-mutant advanced colorectal cancer: Analysis from 2530 patients in randomised clinical trials. Annals of Oncology 28 (3) , pp. 562-568. 10.1093/annonc/mdw645

Jarvis, David, Mitchell, Jonathan S., Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hanninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Jarvinen, Heikki, Renkonen-Sinisalo, Laura, Lepisto, Anna, Bohm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Farrington, Susan M., Mimofeeva, Maria N., Meyer, Brian ., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy, Kaplan, Richard, Kerr, Rachel, Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Aaltonen, Lauri A., Cheadle, Jeremy

, Dunlop, Malcolm G., Tomlinson, Ian P. and Houlston, Richard S. 2016. Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer. British Journal of Cancer 115 , pp. 266-272. 10.1038/bjc.2016.188

Orlando, Giulia, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan, Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy Stanley, Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Ko Win, Aung, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Cheadle, Jeremy Peter

, Dunlop, Malcolm G., Tomlinson, Ian P., Aaltonen, Lauri A. and Houlston, Richard S. 2016. Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. Human Molecular Genetics 25 (11) , pp. 2349-2359. 10.1093/hmg/ddw087

Phipps, Amanda I., Passarelli, Michael N., Chan, Andrew T., Harrison, Tabitha A., Jeon, Jihyoun, Hutter, Carolyn M., Berndt, Sonja I., Brenner, Hermann, Caan, Bette J., Campbell, Peter T., Chang-Claude, Jenny, Chanock, Stephen J., Cheadle, Jeremy Peter

, Curtis, Keith R., Duggan, David, Fisher, David, Fuchs, Charles S., Gala, Manish, Giovannucci, Edward L., Hayes, Richard B., Hoffmeister, Michael, Hsu, Li, Jacobs, Eric J., Jansen, Lina, Kaplan, Richard, Kap, Elisabeth J., Maughan, Timothy S., Potter, John D., Schoen, Robert E., Seminara, Daniela, Slattery, Martha L., West, Hannah, White, Emily, Peters, Ulrike and Newcomb, Polly A. 2016. Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis. Carcinogenesis 37 (1) , pp. 87-95. 10.1093/carcin/bgv161

Cheng, Timothy H. T., Thompson, Deborah, Painter, Jodie, O?Mara, Tracy, Gorman, Maggie, Martin, Lynn, Palles, Claire, Jones, Angela, Buchanan, Daniel D., Ko Win, Aung, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Giles, Graham G, Pharoah, Paul, Peto, Julian, Cox, Angela, Swerdlow, Anthony, Couch, Fergus, Cunningham, Julie M., Goode, Ellen L., Winham, Stacey J., Lambrechts, Diether, Fasching, Peter, Burwinkel, Barbara, Brenner, Hermann, Brauch, Hiltrud, Chang-Claude, Jenny, Salvesen, Helga B., Kristensen, Vessela, Darabi, Hatef, Li, Jingmei, Liu, Tao, Lindblom, Annika, Hall, Per, de Polanco, Magdalena Echeverry, Sans, Monica, Carracedo, Angel, Castellvi-Bel, Sergi, Rojas-Martinez, Augusto, Aguiar Jnr, Samuel, Teixeira, Manuel R., Dunning, Alison M., Dennis, Joe, Otton, Geoffrey, Proietto, Tony, Holliday, Elizabeth, Attia, John, Ashton, Katie, Scott, Rodney J., McEvoy, Mark, Dowdy, Sean C., Fridley, Brooke L., Werner, Henrica M. J., Trovik, Jone, Njolstad, Tormund S., Tham, Emma, Mints, Miriam, Runnebaum, Ingo, Hillemanns, Peter, Dörk, Thilo, Amant, Frederic, Schrauwen, Stefanie, Hein, Alexander, Beckmann, Matthias W., Ekici, Arif, Czene, Kamila, Meindl, Alfons, Bolla, Manjeet K., Michailidou, Kyriaki, Tyrer, Jonathan P., Wang, Qin, Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Annibali, Daniela, Depreeuw, Jeroen, Al-Tassan, Nada A., Harris, Rebecca, Meyer, Brian F., Whiffin, Nicola, Hosking, Fay J, Kinnersley, Ben, Farrington, Susan M., Timofeeva, Maria, Tenesa, Albert, Campbell, Harry, Haile, Robert W., Hodgson, Shirley, Carvajal-Carmona, Luis, Cheadle, Jeremy Peter

, Easton, Douglas, Dunlop, Malcolm, Houlston, Richard, Spurdle, Amanda and Tomlinson, Ian 2015. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Scientific Reports 5 , 17369. 10.1038/srep17369

Smith, Christopher G., Fisher, David, Harris, Rebecca, Maughan, Timothy S., Phipps, Amanda I., Richman, Susan, Seymour, Matthew, Tomlinson, Ian, Rosmarin, Dan, Kerr, David, Chan, Andrew T., Peters, Ulrike, Newcombe, Polly A., Idziaszczyk, Shelley, West, Hannah, Meade, Angela, Kaplan, Richard and Cheadle, Jeremy P.

2015. Analyses of 7,635 patients with colorectal cancer using independent training and validation cohorts show that rs9929218 in CDH1 is a prognostic marker of survival. Clinical Cancer Research 21 (15) , pp. 3453-3461. 10.1158/1078-0432.CCR-14-3136

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2001. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Human Molecular Genetics 10 (25) , pp. 2899-9205. 10.1093/hmg/10.25.2899

Parry, Lee

, Maynard, Julie Helen, Patel, A., Clifford, S. C., Morrissey, C., Maher, E. R., Cheadle, Jeremy Peter

2001. Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. British Journal of Cancer 85 , pp. 1226-1230. 10.1054/bjoc.2001.2072

Soucek, Thomas, Rosner, Margit, Miloloza, Angelina, Kubista, Marion, Cheadle, Jeremy Peter

and Hengstschläger, Markus 2001. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene 20 (35) , pp. 4904-4909.

Jones, Alistair C., Sampson, Julian Roy

2001. Low level mosaicism detectable by DHPLC but not by direct sequencing. Human Mutation 17 (3) , pp. 233-234. 10.1002/humu.8

Fleming, Nick, Maynard, Julie H., Tzitzis, Loukas, Sampson, Julian Roy

2001. LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures. Journal of Biochemical and Biophysical Methods 47 (1-2) , pp. 131-136. 10.1016/S0165-022X(00)00159-7

Benvenuto, Giovanna, Li, Shaowei, Brown, Samantha J., Braverman, Richard, Vass, William C., Cheadle, Jeremy Peter

, Halley, Dicky J. J., Sampson, Julian Roy

, Wienecke, Ralf and DeClue, Jeffrey E. 2000. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19 (54) , pp. 6306-6316. 10.1038/sj.onc.1204009

Cheadle, Jeremy Peter

, Dobbie, Lorraine, Idziaszczyk, Shelley, Hodges, Angela Kaye, Smith, Andrew J.H., Sampson, Julian Roy

and Young, Janet 2000. Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mammalian Genome 11 (12) , pp. 1135-1138. 10.1007/s003350010203

Lamlum, Hanan, Al-Tassan, Nada A., Jaeger, Emma, Frayling, Ian Martin, Sieber, Oliver, Bin Reza, Faisal, Eckert, Maria, Rowan, Andrew, Barclay, Ella, Atkin, Wendy, Williams, Christopher, Gilbert, John, Cheadle, Jeremy Peter

, Bell, Jennie, Houlston, Richard, Bodmer, Walter, Sampson, Julian Roy

and Tomlinson, Ian 2000. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Human Molecular Genetics 9 (15) , pp. 2215-2221.

Cheadle, Jeremy Peter

, Reeve, Mary Pat, Sampson, Julian Roy

and Kwiatkowski, David J. 2000. Molecular genetic advances in tuberous sclerosis. Human Genetics 107 (2) , pp. 97-114. 10.1007/s004390000348

Jones, Alistair C., Sampson, Julian Roy

, Hoogendoorn, Bastiaan

, Cohen, David and Cheadle, Jeremy Peter

2000. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Human Genetics 106 (6) , pp. 663-668. 10.1007/s004390000316

Parry, Lee

, Maynard, Julie Helen, Patel, Amit, Hodges, Angela, von Deimling, Andreas, Sampson, Julian Roy

2000. Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours. Human Genetics 107 (4) , pp. 350-356. 10.1007/s004390000390

Cheadle, Jeremy Peter

, Gill, Harinder, Fleming, Nick, Maynard, Julie Helen, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David Neil

, Lynch, Sally, Thomas, Nicholas Stuart Tudor, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian Roy

and Clarke, Angus John

2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9 (7) , pp. 1119-1129. 10.1093/hmg/9.7.1119

Jones, Alistair C., Austin, Jehannine, Hansen, Nancy, Hoogendoorn, Bastiaan

, Oefner, Peter J., Cheadle, Jeremy Peter

and O'Donovan, Michael Conlon

1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clinical Chemistry 45 (8) , pp. 1133-1140.

Jones, Alistair C., Shyamsundar, Magitha M., Thomas, Meinir W., Maynard, Julie Helen, Idziaszczyk, Shelley, Tomkins, Susan, Sampson, Julian Roy

1999. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. American Journal of Human Genetics 64 (5) , pp. 1305-1315. 10.1086/302381

van Slegtenhorst, M., Nellist, M., Nagelkerken, B., Cheadle, Jeremy Peter

, Snell, Russell, van den Ouweland, Ans, Reuser, Arnold, Sampson, Julian Roy

, Halley, D. and van der Sluijs, Peter 1998. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Human Molecular Genetics 7 (6) , pp. 1053-1057. 10.1093/hmg/7.6.1053

Jones, Alistair C., Daniells, Claire E., Snell, Russell G., Tachataki, Maria, Idziaszczyk, Shelley Alexis, Krawczak, Michael, Sampson, Julian Roy

1997. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Human Molecular Genetics 6 (12) , pp. 2155-2161. 10.1093/hmg/6.12.2155

Sampson, Julian R.

, Maheshwar, Magitha M., Aspinwall, Richard, Thompson, Peter, Cheadle, Jeremy P

, Ravine, David, Roy, Sushmita, Haan, Eric, Bernstein, Jay and Harris, Peter C. 1997. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American Journal of Human Genetics 61 (4) , pp. 843-851. 10.1086/514888

Maheshwar, Magitha M., Cheadle, Jeremy Peter

, Jones, Alistair C., Myring, Jenny, Fryer, Alan E., Harris, Peter C. and Sampson, Julian Roy

1997. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human Molecular Genetics 6 (11) , pp. 1991-1996. 10.1093/hmg/6.11.1991

Kobayashi, Toshiyuki, Urakami, Shinji, Cheadle, Jeremy Peter

, Aspinwall, Richard, Harris, Peter, Sampson, Julian Roy

and Hino, Okio 1997. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian Genome 8 (8) , pp. 554-558. 10.1007/s003359900502

van Slegtenhorst, Marjon, de Hoogt, Ronald, Hermans, Caroline, Nellist, Mark, Janssen, Bart, Verhoef, Senno, Lindhout, Dick, van den Ouwenland, Ans, Halley, Dicky, Young, Janet, Burley, Mariwyn, Jeremiah, Steve, Woodward, Karen, Nahmias, Joseph, Fox, Margaret, Ekong, Rosemary, Osborne, John, Wolfe, Jonathan, Povey, Sue, Snell, Russell G., Cheadle, Jeremy Peter

, Jones, Alistair C., Tachataki, Maria, Ravine, David, Sampson, Julian Roy

, Reeve, Mary Pat, Richardson, Paul, Wilmer, Friederike, Munro, Cheryl, Hawkins, Trevor L., Sepp, Tiina, Ali, Johari B. M., Ward, Susannah, Green, Andrew J., Yates, John R. W., Kwiatkowska, Jolanta, Henske, Elizabeth P., Short, M. Priscilla, Haines, Jonathan H., Jowziak, Sergiusz and Kwiatkowski, David J. 1997. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277 (5327) , pp. 805-808. 10.1126/science.277.5327.805

Aspinwall, Richard, Rothwell, Dominic G., Roldan- Arjona, Teresa, Anselmino, Catherine, Ward, Christopher J., Cheadle, Jeremy Peter