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485 results on '"Castellví-Bel, Sergi"'

1. CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions

Author

Herrera-Pariente, Cristina, Bonjoch, Laia, Muñoz, Jenifer, Fernàndez, Guerau, Soares de Lima, Yasmin, Mahmood, Romesa, Cuatrecasas, Miriam, Ocaña, Teresa, Lopez-Prades, Sandra, Llargués-Sistac, Gemma, Domínguez-Rovira, Xavier, Llach, Joan, Luzko, Irina, Díaz-Gay, Marcos, Lazaro, Conxi, Brunet, Joan, Castillo-Manzano, Carmen, García-González, María Asunción, Lanas, Angel, Carrillo, Marta, Hernández San Gil, Raquel, Quintero, Enrique, Sala, Nuria, Llort, Gemma, Aguilera, Lara, Carot, Laura, Diez-Redondo, Pilar, Jover, Rodrigo, Ramon y Cajal, Teresa, Cubiella, Joaquín, Castells, Antoni, Balaguer, Francesc, Bujanda, Luis, Castellví-Bel, Sergi, and Moreira, Leticia

Published
2024
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2. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

Author

Chen, Zhishan, Guo, Xingyi, Tao, Ran, Huyghe, Jeroen R., Law, Philip J., Fernandez-Rozadilla, Ceres, Ping, Jie, Jia, Guochong, Long, Jirong, Li, Chao, Shen, Quanhu, Xie, Yuhan, Timofeeva, Maria N., Thomas, Minta, Schmit, Stephanie L., Díez-Obrero, Virginia, Devall, Matthew, Moratalla-Navarro, Ferran, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah E. W., Svinti, Victoria, Donnelly, Kevin, Farrington, Susan M., Blackmur, James, Vaughan-Shaw, Peter G., Shu, Xiao-Ou, Lu, Yingchang, Broderick, Peter, Studd, James, Harrison, Tabitha A., Conti, David V., Schumacher, Fredrick R., Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, 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 L., Jenkins, Mark A., Win, Aung Ko, Pai, Rish K., Figueiredo, Jane C., Haile, Robert W., Gallinger, Steven, Woods, Michael O., Newcomb, Polly A., Duggan, David, Cheadle, Jeremy P., Kaplan, Richard, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Jukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri A., Rissanen, Harri, Pukkala, Eero, Eriksson, Johan G., Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie J., Ruiz-Narvaez, Edward, Palmer, Julie R., Buchanan, Daniel D., Platz, Elizabeth A., Visvanathan, Kala, Ulrich, Cornelia M., Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter T., Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha L., Potter, John D., Tsilidis, Kostas K., Schulze, Matthias B., Gunter, Marc J., Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Bishop, D. Timothy, Giles, Graham G., Southey, Melissa C., Idos, Gregory E., McDonnell, Kevin J., Abu-Ful, Zomoroda, Greenson, Joel K., Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope O., van Guelpen, Bethany, Hudson, Thomas J., Hampel, Heather, Pearlman, Rachel, Berndt, Sonja I., Hayes, Richard B., Martinez, Marie Elena, Thomas, Sushma S., Pharoah, Paul D. P., Larsson, Susanna C., Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly F., Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew T., Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David J., Joshi, Amit D., Schafmayer, Clemens, Scacheri, Peter C., Kundaje, Anshul, Schoen, Robert E., Hampe, Jochen, Stadler, Zsofia K., Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Edlund, Christopher K., Gauderman, W. James, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen J., van Duijnhoven, Franzel, Feskens, Edith J. M., Sakoda, Lori C., Gago-Dominguez, Manuela, Wolk, Alicja, Pardini, Barbara, FitzGerald, Liesel M., Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie A., Kooperberg, Charles, Li, Christopher I., Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Le Marchand, Loic, Wu, Anna H., Qu, Chenxu, McNeil, Caroline E., Coetzee, Gerhard, Hayward, Caroline, Deary, Ian J., Harris, Sarah E., Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Lau, Ken S., Zhao, Hongyu, Hsu, Li, Cai, Qiuyin, Dunlop, Malcolm G., Gruber, Stephen B., Houlston, Richard S., Moreno, Victor, Casey, Graham, Peters, Ulrike, Tomlinson, Ian, and Zheng, Wei

Published
2024
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4. Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

Author

Thomas, Minta, Su, Yu-Ru, Rosenthal, Elisabeth A., Sakoda, Lori C., Schmit, Stephanie L., Timofeeva, Maria N., Chen, Zhishan, Fernandez-Rozadilla, Ceres, Law, Philip J., Murphy, Neil, Carreras-Torres, Robert, Diez-Obrero, Virginia, van Duijnhoven, Franzel J. B., Jiang, Shangqing, Shin, Aesun, Wolk, Alicja, Phipps, Amanda I., Burnett-Hartman, Andrea, Gsur, Andrea, Chan, Andrew T., Zauber, Ann G., Wu, Anna H., Lindblom, Annika, Um, Caroline Y., Tangen, Catherine M., Gignoux, Chris, Newton, Christina, Haiman, Christopher A., Qu, Conghui, Bishop, D. Timothy, Buchanan, Daniel D., Crosslin, David R., Conti, David V., Kim, Dong-Hyun, Hauser, Elizabeth, White, Emily, Siegel, Erin, Schumacher, Fredrick R., Rennert, Gad, Giles, Graham G., Hampel, Heather, Brenner, Hermann, Oze, Isao, Oh, Jae Hwan, Lee, Jeffrey K., Schneider, Jennifer L., Chang-Claude, Jenny, Kim, Jeongseon, Huyghe, Jeroen R., Zheng, Jiayin, Hampe, Jochen, Greenson, Joel, Hopper, John L., Palmer, Julie R., Visvanathan, Kala, Matsuo, Keitaro, Matsuda, Koichi, Jung, Keum Ji, Li, Li, Le Marchand, Loic, Vodickova, Ludmila, Bujanda, Luis, Gunter, Marc J., Matejcic, Marco, Jenkins, Mark A., Slattery, Martha L., D’Amato, Mauro, Wang, Meilin, Hoffmeister, Michael, Woods, Michael O., Kim, Michelle, Song, Mingyang, Iwasaki, Motoki, Du, Mulong, Udaltsova, Natalia, Sawada, Norie, Vodicka, Pavel, Campbell, Peter T., Newcomb, Polly A., Cai, Qiuyin, Pearlman, Rachel, Pai, Rish K., Schoen, Robert E., Steinfelder, Robert S., Haile, Robert W., Vandenputtelaar, Rosita, Prentice, Ross L., Küry, Sébastien, Castellví-Bel, Sergi, Tsugane, Shoichiro, Berndt, Sonja I., Lee, Soo Chin, Brezina, Stefanie, Weinstein, Stephanie J., Chanock, Stephen J., Jee, Sun Ha, Kweon, Sun-Seog, Vadaparampil, Susan, Harrison, Tabitha A., Yamaji, Taiki, Keku, Temitope O., Vymetalkova, Veronika, Arndt, Volker, Jia, Wei-Hua, Shu, Xiao-Ou, Lin, Yi, Ahn, Yoon-Ok, Stadler, Zsofia K., Van Guelpen, Bethany, Ulrich, Cornelia M., Platz, Elizabeth A., Potter, John D., Li, Christopher I., Meester, Reinier, Moreno, Victor, Figueiredo, Jane C., Casey, Graham, Lansdorp Vogelaar, Iris, Dunlop, Malcolm G., Gruber, Stephen B., Hayes, Richard B., Pharoah, Paul D. P., Houlston, Richard S., Jarvik, Gail P., Tomlinson, Ian P., Zheng, Wei, Corley, Douglas A., Peters, Ulrike, and Hsu, Li

Published
2023
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5. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Author

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

Published
2023
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6. Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study

Author

Tsilidis, Konstantinos K, Papadimitriou, Nikos, Dimou, Niki, Gill, Dipender, Lewis, Sarah J, Martin, Richard M, Murphy, Neil, Markozannes, Georgios, Zuber, Verena, Cross, Amanda J, Burrows, Kimberley, Lopez, David S, Key, Timothy J, Travis, Ruth C, Perez-Cornago, Aurora, Hunter, David J, van Duijnhoven, Fränzel JB, Albanes, Demetrius, Arndt, Volker, Berndt, Sonja I, Bézieau, Stéphane, Bishop, D Timothy, Boehm, Juergen, Brenner, Hermann, Burnett-Hartman, Andrea, Campbell, Peter T, Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T, Chang-Claude, Jenny, de la Chapelle, Albert, Figueiredo, Jane C, Gallinger, Steven J, Giles, Graham G, Goodman, Phyllis J, Gsur, Andrea, Hampe, Jochen, Hampel, Heather, Hoffmeister, Michael, Jenkins, Mark A, Keku, Temitope O, Kweon, Sun-Seog, Larsson, Susanna C, Le Marchand, Loic, Li, Christopher I, Li, Li, Lindblom, Annika, Martín, Vicente, Milne, Roger L, Moreno, Victor, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A, Offit, Kenneth, Pharoah, Paul DP, Platz, Elizabeth A, Potter, John D, Qi, Lihong, Rennert, Gad, Sakoda, Lori C, Schafmayer, Clemens, Slattery, Martha L, Snetselaar, Linda, Schenk, Jeanette, Thibodeau, Stephen N, Ulrich, Cornelia M, Van Guelpen, Bethany, Harlid, Sophia, Visvanathan, Kala, Vodickova, Ludmila, Wang, Hansong, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Zheng, Wei, Bueno-de-Mesquita, Bas, Boutron-Ruault, Marie-Christine, Hughes, David J, Jakszyn, Paula, Kühn, Tilman, Palli, Domenico, Riboli, Elio, Giovannucci, Edward L, Banbury, Barbara L, Gruber, Stephen B, Peters, Ulrike, Gunter, Marc J, and on behalf of GECCO, CORECT

Subjects
Complementary and Integrative Health, Digestive Diseases, Clinical Research, Clinical Trials and Supportive Activities, Cancer, Colo-Rectal Cancer, Prevention, Nutrition, Prevention of disease and conditions, and promotion of well-being, 3.3 Nutrition and chemoprevention, Case-Control Studies, Colorectal Neoplasms, Dietary Supplements, Genetic Predisposition to Disease, Humans, Mendelian Randomization Analysis, Micronutrients, Risk Factors, Selenium, Vitamin B 12, White People, Mendelian randomization, genes, nutrition, supplements, colorectal cancer, Engineering, Medical and Health Sciences, Nutrition & Dietetics
Abstract

BackgroundThe literature on associations of circulating concentrations of minerals and vitamins with risk of colorectal cancer is limited and inconsistent. Evidence from randomized controlled trials (RCTs) to support the efficacy of dietary modification or nutrient supplementation for colorectal cancer prevention is also limited.ObjectivesTo complement observational and RCT findings, we investigated associations of genetically predicted concentrations of 11 micronutrients (β-carotene, calcium, copper, folate, iron, magnesium, phosphorus, selenium, vitamin B-6, vitamin B-12, and zinc) with colorectal cancer risk using Mendelian randomization (MR).MethodsTwo-sample MR was conducted using 58,221 individuals with colorectal cancer and 67,694 controls from the Genetics and Epidemiology of Colorectal Cancer Consortium, Colorectal Cancer Transdisciplinary Study, and Colon Cancer Family Registry. Inverse variance-weighted MR analyses were performed with sensitivity analyses to assess the impact of potential violations of MR assumptions.ResultsNominally significant associations were noted for genetically predicted iron concentration and higher risk of colon cancer [ORs per SD (ORSD): 1.08; 95% CI: 1.00, 1.17; P value = 0.05] and similarly for proximal colon cancer, and for vitamin B-12 concentration and higher risk of colorectal cancer (ORSD: 1.12; 95% CI: 1.03, 1.21; P value = 0.01) and similarly for colon cancer. A nominally significant association was also noted for genetically predicted selenium concentration and lower risk of colon cancer (ORSD: 0.98; 95% CI: 0.96, 1.00; P value = 0.05) and similarly for distal colon cancer. These associations were robust to sensitivity analyses. Nominally significant inverse associations were observed for zinc and risk of colorectal and distal colon cancers, but sensitivity analyses could not be performed. None of these findings survived correction for multiple testing. Genetically predicted concentrations of β-carotene, calcium, copper, folate, magnesium, phosphorus, and vitamin B-6 were not associated with disease risk.ConclusionsThese results suggest possible causal associations of circulating iron and vitamin B-12 (positively) and selenium (inversely) with risk of colon cancer.

Published
2021

7. Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes

Author

Wang, Xiaoliang, Huyghe, Jeroen R., Joo, Jihoon E., Georgeson, Peter, Arndt, Volker, Berndt, Sonja I., Bézieau, Stéphane, Bien, Stephanie A., Bishop, D. Timothy, Brenner, Hermann, Brezina, Stefanie, Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chen, Xuechen, Conti, David V., Cremolini, Chiara, Diergaarde, Brenda, Figueiredo, Jane C., FitzGerald, Liesel M., Gago-Dominguez, Manuela, Gallinger, Steven, Giles, Graham G., Gsu, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Keku, Temitope O., Kundaje, Anshul, Le Marchand, Loic, Lenz, Heinz-Josef, Li, Christopher I., Li, Li, Lin, Yi, Lindblom, Annika, Moreno, Victor, Murphy, Neil, Newcomb, Polly A., Newton, Christina C., Obón-Santacana, Mireia, Ogino, Shuji, Pai, Rish K., Palmer, Julie R., Pearlman, Rachel, Pharoah, Paul D.P., Phipps, Amanda I., Platz, Elizabeth A., Potter, John D., Rennert, Gad, Sakoda, Lori C., Schafmayer, Clemens, Schmit, Stephanie L., Schoen, Robert E., Slattery, Martha L., Stadler, Zsofia K., Steinfelder, Robert S., Thibodeau, Stephen N., Ulrich, Cornelia M., Um, Caroline Y., van Duijnhoven, Franzel J.B., Van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Weinstein, Stephanie J., White, Emily, Winship, Ingrid M., Wolk, Alicja, Gruber, Stephen B., Jenkins, Mark A., Mahmood, Khalid, Thomas, Minta, Qu, Conghui, Hsu, Li, Buchanan, Daniel D., and Peters, Ulrike

Published
2023
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8. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

Author

Bonjoch, Laia, Fernandez-Rozadilla, Ceres, Alvarez-Barona, Miriam, Lopez-Novo, Anael, Herrera-Pariente, Cristina, Amigo, Jorge, Bujanda, Luis, Remedios, David, Dacal, Andrés, Cubiella, Joaquín, Balaguer, Francesc, Fernández-Bañares, Fernando, Carracedo, Angel, Jover, Rodrigo, Castellvi-Bel, Sergi, and Ruiz-Ponte, Clara

Published
2023
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10. Identification of potential mediators of the relationship between body mass index and colorectal cancer: a Mendelian randomization analysis

Author

Bouras, Emmanouil, primary, Gill, Dipender, additional, Zuber, Verena, additional, Murphy, Neil, additional, Dimou, Niki, additional, Aleksandrova, Krasimira, additional, Lewis, Sarah J, additional, Martin, Richard M, additional, Yarmolinsky, James, additional, Albanes, Demetrius, additional, Brenner, Hermann, additional, Castellví-Bel, Sergi, additional, Chan, Andrew T, additional, Cheng, Iona, additional, Gruber, Stephen, additional, Van Guelpen, Bethany, additional, Li, Christopher I, additional, Le Marchand, Loic, additional, Newcomb, Polly A, additional, Ogino, Shuji, additional, Pellatt, Andrew, additional, Schmit, Stephanie L, additional, Wolk, Alicja, additional, Wu, Anna H, additional, Peters, Ulrike, additional, Gunter, Marc J, additional, and Tsilidis, Konstantinos K, additional

Published
2024
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11. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Author

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

Published
2023
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12. Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects

Author

Guo, Xingyi, Lin, Weiqiang, Wen, Wanqing, Huyghe, Jeroen, Bien, Stephanie, Cai, Qiuyin, Harrison, Tabitha, Chen, Zhishan, Qu, Conghui, Bao, Jiandong, Long, Jirong, Yuan, Yuan, Wang, Fangqin, Bai, Mengqiu, Abecasis, Goncalo R., Albanes, Demetrius, Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Brenner, Hermann, Buch, Stephan, Burnett-Hartman, Andrea, Campbell, Peter T., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Cho, Sang Hee, Conti, David V., Chapelle, Albert de la, Feskens, Edith J.M., Gallinger, Steven J., Giles, Graham G., Goodman, Phyllis J., Gsur, Andrea, Guinter, Mark, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Hayes, Richard B., Hoffmeister, Michael, Kampman, Ellen, Kang, Hyun Min, Keku, Temitope O., Kim, Hyeong Rok, Le Marchand, Loic, Lee, Soo Chin, Li, Christopher I., Li, Li, Lindblom, Annika, Lindor, Noralane, Milne, Roger L., Moreno, Victor, Murphy, Neil, Newcomb, Polly A., Nickerson, Deborah A., Offit, Kenneth, Pearlman, Rachel, Pharoah, Paul D.P., Platz, Elizabeth A., Potter, John D., Rennert, Gad, Sakoda, Lori C., Schafmayer, Clemens, Schmit, Stephanie L., Schoen, Robert E., Schumacher, Fredrick R., Slattery, Martha L., Su, Yu-Ru, Tangen, Catherine M., Ulrich, Cornelia M., van Duijnhoven, Franzel J.B., Van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Wang, Xiaoliang, White, Emily, Wolk, Alicja, Woods, Michael O., Casey, Graham, Hsu, Li, Jenkins, Mark A., Gruber, Stephen B., Peters, Ulrike, and Zheng, Wei

Published
2021
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13. Data-Independent Acquisition Mass Spectrometry Analysis of FFPE Rectal Cancer Samples Offers In-Depth Proteomics Characterization of the Response to Neoadjuvant Chemoradiotherapy

Author

Stanojevic, Aleksandra, primary, Samiotaki, Martina, additional, Lygirou, Vasiliki, additional, Marinkovic, Mladen, additional, Nikolic, Vladimir, additional, Stojanovic-Rundic, Suzana, additional, Jankovic, Radmila, additional, Vlahou, Antonia, additional, Panayotou, George, additional, Fijneman, Remond J. A., additional, Castellví-Bel, Sergi, additional, Zoidakis, Jerome, additional, and Cavic, Milena, additional

Published
2023
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14. Identifying metabolic features of colorectal cancer liability using Mendelian randomization

Author

Bull, Caroline J., primary, Hazelwood, Emma, additional, Bell, Joshua A., additional, Tan, Vanessa Y., additional, Constantinescu, Andrei-Emil, additional, Borges, Maria Carolina, additional, Legge, Danny N., additional, Burrows, Kimberly, additional, Huyghe, Jeroen R., additional, Brenner, Hermann, additional, Castellví-Bel, Sergi, additional, Chan, Andrew T, additional, Kweon, Sun-Seog, additional, Marchand, Loic Le, additional, Li, Li, additional, Cheng, Iona, additional, Pai, Rish K., additional, Figueiredo, Jane C., additional, Murphy, Neil, additional, Gunter, Marc J., additional, Timpson, Nicholas J., additional, and Vincent, Emma E., additional

Published
2023
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15. Author Response: Identifying metabolic features of colorectal cancer liability using Mendelian randomization

Author

Bull, Caroline J., primary, Hazelwood, Emma, additional, Bell, Joshua A., additional, Tan, Vanessa Y., additional, Constantinescu, Andrei-Emil, additional, Borges, Maria Carolina, additional, Legge, Danny N., additional, Burrows, Kimberly, additional, Huyghe, Jeroen R., additional, Brenner, Hermann, additional, Castellví-Bel, Sergi, additional, Chan, Andrew T, additional, Kweon, Sun-Seog, additional, Marchand, Loic Le, additional, Li, Li, additional, Cheng, Iona, additional, Pai, Rish K., additional, Figueiredo, Jane C., additional, Murphy, Neil, additional, Gunter, Marc J., additional, Timpson, Nicholas J., additional, and Vincent, Emma E., additional

Published
2023
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16. Performance and Dimensionality of Pretreatment MRI Radiomics in Rectal Carcinoma Chemoradiotherapy Prediction

Author

Marinković, Mladen, primary, Stojanović-Rundić, Suzana, additional, Stanojevic, Aleksandra, additional, Tomašević, Aleksandar, additional, Janković, Radmila, additional, Zoidakis, Jerome, additional, Castellví-Bel, Sergi, additional, Fijneman, Remond J.A., additional, Čavić, Milena, additional, and Radulović, Marko, additional

Published
2023
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18. Performance and Dimensionality of Pretreatment MRI Radiomics in Rectal Carcinoma Chemoradiotherapy Prediction.

Author

Marinkovic, Mladen, Stojanovic-Rundic, Suzana, Stanojevic, Aleksandra, Tomasevic, Aleksandar, Jankovic, Radmila, Zoidakis, Jerome, Castellví-Bel, Sergi, Fijneman, Remond J. A., Cavic, Milena, and Radulovic, Marko

Subjects
RADIOMICS, MACHINE learning, RECTAL cancer, MAGNETIC resonance imaging, CHEMORADIOTHERAPY, FEATURE selection
Abstract

(1) Background: This study aimed to develop a machine learning model based on radiomics of pretreatment magnetic resonance imaging (MRI) 3D T2W contrast sequence scans combined with clinical parameters (CP) to predict neoadjuvant chemoradiotherapy (nCRT) response in patients with locally advanced rectal carcinoma (LARC). The study also assessed the impact of radiomics dimensionality on predictive performance. (2) Methods: Seventy-five patients were prospectively enrolled with clinicopathologically confirmed LARC and nCRT before surgery. Tumor properties were assessed by calculating 2141 radiomics features. Least absolute shrinkage selection operator (LASSO) and multivariate regression were used for feature selection. (3) Results: Two predictive models were constructed, one starting from 72 CP and 107 radiomics features, and the other from 72 CP and 1862 radiomics features. The models revealed moderately advantageous impact of increased dimensionality, with their predictive respective AUCs of 0.86 and 0.90 in the entire cohort and 0.84 within validation folds. Both models outperformed the CP-only model (AUC = 0.80) which served as the benchmark for predictive performance without radiomics. (4) Conclusions: Predictive models developed in this study combining pretreatment MRI radiomics and clinicopathological features may potentially provide a routine clinical predictor of chemoradiotherapy responders, enabling clinicians to personalize treatment strategies for rectal carcinoma. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Endoscopic surveillance for familial intestinal gastric cancer in low‐incidence areas: An effective strategy.

Author

Llach, Joan, Salces, Inmaculada, Guerra, Ana, Peñas, Beatriz, Rodriguez‐Alcalde, Daniel, Redondo, Pilar Díez, Cubiella, Joaquin, Murcia, Óscar, Escalante, Maite, Gratacós‐Ginès, Jordi, Pocurull, Anna, Daca‐Alvarez, Maria, Luzko, Irina, Sánchez, Ariadna, Herrera‐Pariente, Cristina, Ocaña, Teresa, Carballal, Sabela, Elizalde, Ignasi, Castellví‐Bel, Sergi, and Fernández‐Esparrach, Glòria

Subjects
INTESTINAL cancer, STOMACH cancer, HELICOBACTER pylori, ODDS ratio, FAMILY assessment, ATROPHIC gastritis
Abstract

While clinical practice guidelines for hereditary diffuse gastric cancer are well established, there is no consensus on the approach for familial intestinal gastric cancer (FIGC). In low‐incidence gastric cancer (GC) areas such as the United States or most European countries, there are no evidence‐based recommendations on endoscopic assessment in FIGC families. We aim to describe the yield of GC surveillance in these families, and to identify epidemiological risk factors for the development of GC and its precursor lesions. This is a multicenter observational study involving nine tertiary Spanish hospitals, in which all individuals fulfilling FIGC criteria who underwent endoscopic surveillance were included between 1991 and 2020. Forty‐one healthy individuals of 31 families were recruited. The median number of upper gastrointestinal endoscopies per individual was 3 (interquartile range, IQR, 1‐4). The median interval time between tests was 2 years (IQR 1.5‐2.5), and the median follow‐up was 9 years (IQR 3‐14.5). In 18 (43.9%) subjects, a precursor lesion of GC was found during follow‐up, and in 2 (4.9%), an early GC was identified, in which curative treatment was offered. Helicobacter pylori (Hp) infection proved to be independently associated with an increased risk of developing precursor lesions or GC, adjusted by age, gender and follow‐up, with an Odds Ratio of 6.443 (1.36‐30.6, P value.019). We present the first outcomes that support endoscopic surveillance with biopsies and detection of Hp in FIGC families, although the periodicity has yet to be defined. [ABSTRACT FROM AUTHOR]

Published
2024
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20. Reply

Author

Bonjoch, Laia, primary, Castellví-Bel, Sergi, additional, and Ruiz-Ponte, Clara, additional

Published
2023
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21. Exploring novel genetic and hematological predictors of response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer

Author

Marinkovic, Mladen, primary, Stojanovic-Rundic, Suzana, additional, Stanojevic, Aleksandra, additional, Ostojic, Marija, additional, Gavrilovic, Dusica, additional, Jankovic, Radmila, additional, Maksimovic, Natasa, additional, Stroggilos, Rafael, additional, Zoidakis, Jerome, additional, Castellví-Bel, Sergi, additional, Fijneman, Remond J. A., additional, and Cavic, Milena, additional

Published
2023
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22. Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes

Author

Mahmood, Khalid, primary, Thomas, Minta, additional, Qu, Conghui, additional, Hsu, Li, additional, Buchanan, Daniel D., additional, Peters, Ulrike, additional, Wang, Xiaoliang, additional, Huyghe, Jeroen R., additional, Joo, Jihoon E., additional, Georgeson, Peter, additional, Arndt, Volker, additional, Berndt, Sonja I., additional, Bézieau, Stéphane, additional, Bien, Stephanie A., additional, Bishop, D. Timothy, additional, Brenner, Hermann, additional, Brezina, Stefanie, additional, Burnett-Hartman, Andrea, additional, Campbell, Peter T., additional, Casey, Graham, additional, Castellví-Bel, Sergi, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Chen, Xuechen, additional, Conti, David V., additional, Cremolini, Chiara, additional, Diergaarde, Brenda, additional, Figueiredo, Jane C., additional, FitzGerald, Liesel M., additional, Gago-Dominguez, Manuela, additional, Gallinger, Steven, additional, Giles, Graham G., additional, Gsu, Andrea, additional, Gunter, Marc J., additional, Hampe, Jochen, additional, Hampel, Heather, additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, Keku, Temitope O., additional, Kundaje, Anshul, additional, Le Marchand, Loic, additional, Lenz, Heinz-Josef, additional, Li, Christopher I., additional, Li, Li, additional, Lin, Yi, additional, Lindblom, Annika, additional, Moreno, Victor, additional, Murphy, Neil, additional, Newcomb, Polly A., additional, Newton, Christina C., additional, Obón-Santacana, Mireia, additional, Ogino, Shuji, additional, Pai, Rish K., additional, Palmer, Julie R., additional, Pearlman, Rachel, additional, Pharoah, Paul D.P., additional, Phipps, Amanda I., additional, Platz, Elizabeth A., additional, Potter, John D., additional, Rennert, Gad, additional, Sakoda, Lori C., additional, Schafmayer, Clemens, additional, Schmit, Stephanie L., additional, Schoen, Robert E., additional, Slattery, Martha L., additional, Stadler, Zsofia K., additional, Steinfelder, Robert S., additional, Thibodeau, Stephen N., additional, Ulrich, Cornelia M., additional, Um, Caroline Y., additional, van Duijnhoven, Franzel J.B., additional, Van Guelpen, Bethany, additional, Visvanathan, Kala, additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, Vymetalkova, Veronika, additional, Weinstein, Stephanie J., additional, White, Emily, additional, Winship, Ingrid M., additional, Wolk, Alicja, additional, Gruber, Stephen B., additional, and Jenkins, Mark A., additional

Published
2023
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23. Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing

Author

Toma, Claudio, Díaz-Gay, Marcos, Soares de Lima, Yasmin, Arnau-Collell, Coral, Franch-Expósito, Sebastià, Muñoz, Jenifer, Overs, Bronwyn, Bonjoch, Laia, Carballal, Sabela, Ocaña, Teresa, Cuatrecasas, Miriam, Díaz de Bustamante, Aránzazu, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Balaguer, Francesc, Rodríguez-Alcalde, Daniel, Fullerton, Janice M., and Castellví-Bel, Sergi

Published
2019
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24. Discovery of common and rare genetic risk variants for colorectal cancer

Author

Huyghe, Jeroen R., Bien, Stephanie A., Harrison, Tabitha A., Kang, Hyun Min, Chen, Sai, Schmit, Stephanie L., Conti, David V., Qu, Conghui, Jeon, Jihyoun, Edlund, Christopher K., Greenside, Peyton, Wainberg, Michael, Schumacher, Fredrick R., Smith, Joshua D., Levine, David M., Nelson, Sarah C., Sinnott-Armstrong, Nasa A., Albanes, Demetrius, Alonso, M. Henar, Anderson, Kristin, Arnau-Collell, Coral, Arndt, Volker, Bamia, Christina, Banbury, Barbara L., Baron, John A., Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Boehm, Juergen, Boeing, Heiner, Brenner, Hermann, Brezina, Stefanie, Buch, Stephan, Buchanan, Daniel D., Burnett-Hartman, Andrea, Butterbach, Katja, Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chirlaque, Maria-Dolores, Cho, Sang Hee, Connolly, Charles M., Cross, Amanda J., Cuk, Katarina, Curtis, Keith R., de la Chapelle, Albert, Doheny, Kimberly F., Duggan, David, Easton, Douglas F., Elias, Sjoerd G., Elliott, Faye, English, Dallas R., Feskens, Edith J. M., Figueiredo, Jane C., Fischer, Rocky, FitzGerald, Liesel M., Forman, David, Gala, Manish, Gallinger, Steven, Gauderman, W. James, Giles, Graham G., Gillanders, Elizabeth, Gong, Jian, Goodman, Phyllis J., Grady, William M., Grove, John S., Gsur, Andrea, Gunter, Marc J., Haile, Robert W., Hampe, Jochen, Hampel, Heather, Harlid, Sophia, Hayes, Richard B., Hofer, Philipp, Hoffmeister, Michael, Hopper, John L., Hsu, Wan-Ling, Huang, Wen-Yi, Hudson, Thomas J., Hunter, David J., Ibañez-Sanz, Gemma, Idos, Gregory E., Ingersoll, Roxann, Jackson, Rebecca D., Jacobs, Eric J., Jenkins, Mark A., Joshi, Amit D., Joshu, Corinne E., Keku, Temitope O., Key, Timothy J., Kim, Hyeong Rok, Kobayashi, Emiko, Kolonel, Laurence N., Kooperberg, Charles, Kühn, Tilman, Küry, Sébastien, Kweon, Sun-Seog, Larsson, Susanna C., Laurie, Cecelia A., Le Marchand, Loic, Leal, Suzanne M., Lee, Soo Chin, Lejbkowicz, Flavio, Lemire, Mathieu, Li, Christopher I., Li, Li, Lieb, Wolfgang, Lin, Yi, Lindblom, Annika, Lindor, Noralane M., Ling, Hua, Louie, Tin L., Männistö, Satu, Markowitz, Sanford D., Martín, Vicente, Masala, Giovanna, McNeil, Caroline E., Melas, Marilena, Milne, Roger L., Moreno, Lorena, Murphy, Neil, Myte, Robin, Naccarati, Alessio, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Onland-Moret, N. Charlotte, Pardini, Barbara, Parfrey, Patrick S., Pearlman, Rachel, Perduca, Vittorio, Pharoah, Paul D. P., Pinchev, Mila, Platz, Elizabeth A., Prentice, Ross L., Pugh, Elizabeth, Raskin, Leon, Rennert, Gad, Rennert, Hedy S., Riboli, Elio, Rodríguez-Barranco, Miguel, Romm, Jane, Sakoda, Lori C., Schafmayer, Clemens, Schoen, Robert E., Seminara, Daniela, Shah, Mitul, Shelford, Tameka, Shin, Min-Ho, Shulman, Katerina, Sieri, Sabina, Slattery, Martha L., Southey, Melissa C., Stadler, Zsofia K., Stegmaier, Christa, Su, Yu-Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Thomas, Sushma S., Toland, Amanda E., Trichopoulou, Antonia, Ulrich, Cornelia M., Van Den Berg, David J., van Duijnhoven, Franzel J. B., Van Guelpen, Bethany, van Kranen, Henk, Vijai, Joseph, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Weigl, Korbinian, Weinstein, Stephanie J., White, Emily, Win, Aung Ko, Wolf, C. Roland, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zaidi, Syed H., Zanke, Brent W., Zhang, Qing, Zheng, Wei, Scacheri, Peter C., Potter, John D., Bassik, Michael C., Kundaje, Anshul, Casey, Graham, Moreno, Victor, Abecasis, Goncalo R., Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, and Peters, Ulrike

Published
2019
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26. Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study

Author

Bull, Caroline J., Bell, Joshua A., Murphy, Neil, Sanderson, Eleanor, Davey Smith, George, Timpson, Nicholas J., Banbury, Barbara L., Albanes, Demetrius, Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Cross, Amanda J., de la Chapelle, Albert, Figueiredo, Jane C., Gallinger, Steven J., Gapstur, Susan M., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Huyghe, Jeroen R., Jenkins, Mark A., Joshu, Corinne E., Keku, Temitope O., Kühn, Tilman, Kweon, Sun-Seog, Le Marchand, Loic, Li, Christopher I., Li, Li, Lindblom, Annika, Martín, Vicente, May, Anne M., Milne, Roger L., Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Phipps, Amanda I., Platz, Elizabeth A., Potter, John D., Qu, Conghui, Quirós, J. Ramón, Rennert, Gad, Riboli, Elio, Sakoda, Lori C., Schafmayer, Clemens, Schoen, Robert E., Slattery, Martha L., Tangen, Catherine M., Tsilidis, Kostas K., Ulrich, Cornelia M., van Duijnhoven, Fränzel J. B., van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Wang, Hansong, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Campbell, Peter T., Zheng, Wei, Peters, Ulrike, Vincent, Emma E., and Gunter, Marc J.

Published
2020
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27. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins

Author

Abulí, Anna, Fernández-Rozadilla, Ceres, Alonso-Espinaco, Virginia, Muñoz, Jenifer, Gonzalo, Victoria, Bessa, Xavier, González, Dolors, Clofent, Joan, Cubiella, Joaquin, Morillas, Juan D, Rigau, Joaquim, Latorre, Mercedes, Fernández-Bañares, Fernando, Peña, Elena, Riestra, Sabino, Payá, Artemio, Jover, Rodrigo, Xicola, Rosa M, Llor, Xavier, Carvajal-Carmona, Luis, Villanueva, Cristina M, Moreno, Victor, Piqué, Josep M, Carracedo, Angel, Castells, Antoni, Andreu, Montserrat, Ruiz-Ponte, Clara, Castellví-Bel, Sergi, and for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association

Subjects
Prevention, Cancer, Clinical Research, Genetics, Colo-Rectal Cancer, Digestive Diseases, 2.1 Biological and endogenous factors, Aetiology, Case-Control Studies, Colonic Neoplasms, Genetic Predisposition to Disease, Humans, Mucins, N-Acetylgalactosaminyltransferases, Polymorphism, Single Nucleotide, Prospective Studies, Spain, Colorectal Neoplasms, Single Nucleotide Polymorphism, Genetic Association Studies, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association, Oncology and Carcinogenesis, Public Health and Health Services, Oncology & Carcinogenesis
Abstract

BackgroundColorectal cancer (CRC) is the second leading cause of cancer death in developed countries. Familial aggregation in CRC is also important outside syndromic forms and, in this case, a polygenic model with several common low-penetrance alleles contributing to CRC genetic predisposition could be hypothesized. Mucins and GALNTs (N-acetylgalactosaminyltransferase) are interesting candidates for CRC genetic susceptibility and have not been previously evaluated. We present results for ten genetic variants linked to CRC risk in previous studies (previously identified category) and 18 selected variants from the mucin gene family in a case-control association study from the Spanish EPICOLON consortium.MethodsCRC cases and matched controls were from EPICOLON, a prospective, multicenter, nationwide Spanish initiative, comprised of two independent stages. Stage 1 corresponded to 515 CRC cases and 515 controls, whereas stage 2 consisted of 901 CRC cases and 909 controls. Also, an independent cohort of 549 CRC cases and 599 controls outside EPICOLON was available for additional replication. Genotyping was performed for ten previously identified SNPs in ADH1C, APC, CCDN1, IL6, IL8, IRS1, MTHFR, PPARG, VDR and ARL11, and 18 selected variants in the mucin gene family.ResultsNone of the 28 SNPs analyzed in our study was found to be associated with CRC risk. Although four SNPs were significant with a P-value < 0.05 in EPICOLON stage 1 [rs698 in ADH1C (OR = 1.63, 95% CI = 1.06-2.50, P-value = 0.02, recessive), rs1800795 in IL6 (OR = 1.62, 95% CI = 1.10-2.37, P-value = 0.01, recessive), rs3803185 in ARL11 (OR = 1.58, 95% CI = 1.17-2.15, P-value = 0.007, codominant), and rs2102302 in GALNTL2 (OR = 1.20, 95% CI = 1.00-1.44, P-value = 0.04, log-additive 0, 1, 2 alleles], only rs3803185 achieved statistical significance in EPICOLON stage 2 (OR = 1.34, 95% CI = 1.06-1.69, P-value = 0.01, recessive). In the joint analysis for both stages, results were only significant for rs3803185 (OR = 1.12, 95% CI = 1.00-1.25, P-value = 0.04, log-additive 0, 1, 2 alleles) and borderline significant for rs698 and rs2102302. The rs3803185 variant was not significantly associated with CRC risk in an external cohort (MCC-Spain), but it still showed some borderline significance in the pooled analysis of both cohorts (OR = 1.08, 95% CI = 0.98-1.18, P-value = 0.09, log-additive 0, 1, 2 alleles).ConclusionsARL11, ADH1C, GALNTL2 and IL6 genetic variants may have an effect on CRC risk. Further validation and meta-analyses should be undertaken in larger CRC studies.

Published
2011

28. Supplementary Figures and Table from BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X

Author

Martín-Morales, Lorena, primary, Garre, Pilar, primary, Lorca, Víctor, primary, Cazorla, Marta, primary, Llovet, Patricia, primary, Bando, Inmaculada, primary, García-Barberan, Vanesa, primary, González-Morales, María Luisa, primary, Esteban-Jurado, Clara, primary, de la Hoya, Miguel, primary, Castellví-Bel, Sergi, primary, and Caldés, Trinidad, primary

Published
2023
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29. Data from BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X

Author

Martín-Morales, Lorena, primary, Garre, Pilar, primary, Lorca, Víctor, primary, Cazorla, Marta, primary, Llovet, Patricia, primary, Bando, Inmaculada, primary, García-Barberan, Vanesa, primary, González-Morales, María Luisa, primary, Esteban-Jurado, Clara, primary, de la Hoya, Miguel, primary, Castellví-Bel, Sergi, primary, and Caldés, Trinidad, primary

Published
2023
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30. Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

Author

Papadimitriou, Nikos, Dimou, Niki, Tsilidis, Konstantinos K., Banbury, Barbara, Martin, Richard M., Lewis, Sarah J., Kazmi, Nabila, Robinson, Timothy M., Albanes, Demetrius, Aleksandrova, Krasimira, Berndt, Sonja I., Timothy Bishop, D., Brenner, Hermann, Buchanan, Daniel D., Bueno-de-Mesquita, Bas, Campbell, Peter T., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Ellingjord-Dale, Merete, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Giovannucci, Edward, Gruber, Stephen B., Gsur, Andrea, Hampe, Jochen, Hampel, Heather, Harlid, Sophia, Harrison, Tabitha A., Hoffmeister, Michael, Hopper, John L., Hsu, Li, María Huerta, José, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Kühn, Tilman, La Vecchia, Carlo, Le Marchand, Loic, Li, Christopher I., Li, Li, Lindblom, Annika, Lindor, Noralane M., Lynch, Brigid, Markowitz, Sanford D., Masala, Giovanna, May, Anne M., Milne, Roger, Monninkhof, Evelyn, Moreno, Lorena, Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Perduca, Vittorio, Pharoah, Paul D. P., Platz, Elizabeth A., Potter, John D., Rennert, Gad, Riboli, Elio, Sánchez, Maria-Jose, Schmit, Stephanie L., Schoen, Robert E., Severi, Gianluca, Sieri, Sabina, Slattery, Martha L., Song, Mingyang, Tangen, Catherine M., Thibodeau, Stephen N., Travis, Ruth C., Trichopoulou, Antonia, Ulrich, Cornelia M., van Duijnhoven, Franzel J. B., Van Guelpen, Bethany, Vodicka, Pavel, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Peters, Ulrike, Gunter, Marc J., and Murphy, Neil

Published
2020
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31. Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study

Author

Domingo, Enric, Freeman-Mills, Luke, Rayner, Emily, Glaire, Mark, Briggs, Sarah, Vermeulen, Louis, Fessler, Evelyn, Medema, Jan Paul, Boot, Arnoud, Morreau, Hans, van Wezel, Tom, Liefers, Gerrit-Jan, Lothe, Ragnhild A, Danielsen, Stine A, Sveen, Anita, Nesbakken, Arild, Zlobec, Inti, Lugli, Alessandro, Koelzer, Viktor H, Berger, Martin D, Castellví-Bel, Sergi, Muñoz, Jenifer, de Bruyn, Marco, Nijman, Hans W, Novelli, Marco, Lawson, Kay, Oukrif, Dahmane, Frangou, Eleni, Dutton, Peter, Tejpar, Sabine, Delorenzi, Mauro, Kerr, Rachel, Kerr, David, Tomlinson, Ian, and Church, David N

Published
2016
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32. Supplementary Methods from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

Author

Borràs, Ester, primary, Pineda, Marta, primary, Blanco, Ignacio, primary, Jewett, Ethan M., primary, Wang, Fei, primary, Teulé, Àlex, primary, Caldés, Trinidad, primary, Urioste, Miguel, primary, Martínez-Bouzas, Cristina, primary, Brunet, Joan, primary, Balmaña, Judith, primary, Torres, Asunción, primary, Ramón y Cajal, Teresa, primary, Sanz, Judit, primary, Pérez-Cabornero, Lucía, primary, Castellví-Bel, Sergi, primary, Alonso, Ángel, primary, Lanas, Ángel, primary, González, Sara, primary, Moreno, Víctor, primary, Gruber, Stephen B., primary, Rosenberg, Noah A., primary, Mukherjee, Bhramar, primary, Lázaro, Conxi, primary, and Capellá, Gabriel, primary

Published
2023
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33. Data from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

Author

Borràs, Ester, primary, Pineda, Marta, primary, Blanco, Ignacio, primary, Jewett, Ethan M., primary, Wang, Fei, primary, Teulé, Àlex, primary, Caldés, Trinidad, primary, Urioste, Miguel, primary, Martínez-Bouzas, Cristina, primary, Brunet, Joan, primary, Balmaña, Judith, primary, Torres, Asunción, primary, Ramón y Cajal, Teresa, primary, Sanz, Judit, primary, Pérez-Cabornero, Lucía, primary, Castellví-Bel, Sergi, primary, Alonso, Ángel, primary, Lanas, Ángel, primary, González, Sara, primary, Moreno, Víctor, primary, Gruber, Stephen B., primary, Rosenberg, Noah A., primary, Mukherjee, Bhramar, primary, Lázaro, Conxi, primary, and Capellá, Gabriel, primary

Published
2023
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34. Supplementary Figure 1 from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

Author

Borràs, Ester, primary, Pineda, Marta, primary, Blanco, Ignacio, primary, Jewett, Ethan M., primary, Wang, Fei, primary, Teulé, Àlex, primary, Caldés, Trinidad, primary, Urioste, Miguel, primary, Martínez-Bouzas, Cristina, primary, Brunet, Joan, primary, Balmaña, Judith, primary, Torres, Asunción, primary, Ramón y Cajal, Teresa, primary, Sanz, Judit, primary, Pérez-Cabornero, Lucía, primary, Castellví-Bel, Sergi, primary, Alonso, Ángel, primary, Lanas, Ángel, primary, González, Sara, primary, Moreno, Víctor, primary, Gruber, Stephen B., primary, Rosenberg, Noah A., primary, Mukherjee, Bhramar, primary, Lázaro, Conxi, primary, and Capellá, Gabriel, primary

Published
2023
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35. Supplementary Table 1 from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

Author

Borràs, Ester, primary, Pineda, Marta, primary, Blanco, Ignacio, primary, Jewett, Ethan M., primary, Wang, Fei, primary, Teulé, Àlex, primary, Caldés, Trinidad, primary, Urioste, Miguel, primary, Martínez-Bouzas, Cristina, primary, Brunet, Joan, primary, Balmaña, Judith, primary, Torres, Asunción, primary, Ramón y Cajal, Teresa, primary, Sanz, Judit, primary, Pérez-Cabornero, Lucía, primary, Castellví-Bel, Sergi, primary, Alonso, Ángel, primary, Lanas, Ángel, primary, González, Sara, primary, Moreno, Víctor, primary, Gruber, Stephen B., primary, Rosenberg, Noah A., primary, Mukherjee, Bhramar, primary, Lázaro, Conxi, primary, and Capellá, Gabriel, primary

Published
2023
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36. Supplementary Table 2 from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

Author

Borràs, Ester, primary, Pineda, Marta, primary, Blanco, Ignacio, primary, Jewett, Ethan M., primary, Wang, Fei, primary, Teulé, Àlex, primary, Caldés, Trinidad, primary, Urioste, Miguel, primary, Martínez-Bouzas, Cristina, primary, Brunet, Joan, primary, Balmaña, Judith, primary, Torres, Asunción, primary, Ramón y Cajal, Teresa, primary, Sanz, Judit, primary, Pérez-Cabornero, Lucía, primary, Castellví-Bel, Sergi, primary, Alonso, Ángel, primary, Lanas, Ángel, primary, González, Sara, primary, Moreno, Víctor, primary, Gruber, Stephen B., primary, Rosenberg, Noah A., primary, Mukherjee, Bhramar, primary, Lázaro, Conxi, primary, and Capellá, Gabriel, primary

Published
2023
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37. Pancreatic Cancer Surveillance in Carriers of a Germline Pathogenic Variant in CDKN2A

Author

Llach, Joan, primary, Aguilera, Paula, additional, Sánchez, Ariadna, additional, Ginès, Angels, additional, Fernández-Esparrach, Glòria, additional, Soy, Guillem, additional, Sendino, Oriol, additional, Vaquero, Eva, additional, Carballal, Sabela, additional, Ausania, Fabio, additional, Ayuso, Juan Ramón, additional, Darnell, Anna, additional, Pellisé, María, additional, Castellví-Bel, Sergi, additional, Puig, Susana, additional, Balaguer, Francesc, additional, and Moreira, Leticia, additional

Published
2023
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38. Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome

Author

Bonjoch, Laia, primary, Soares de Lima, Yasmin, additional, Díaz-Gay, Marcos, additional, Dotti, Isabella, additional, Muñoz, Jenifer, additional, Moreira, Leticia, additional, Carballal, Sabela, additional, Ocaña, Teresa, additional, Cuatrecasas, Miriam, additional, Ortiz, Oswaldo, additional, Castells, Antoni, additional, Pellisé, Maria, additional, Balaguer, Francesc, additional, Salas, Azucena, additional, Alexandrov, Ludmil B., additional, and Castellví-Bel, Sergi, additional

Published
2023
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39. Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity

Author

Thomas, Minta, primary, Su, Yu-Ru, additional, Rosenthal, Elisabeth A., additional, Sakoda, Lori C, additional, Schmit, Stephanie L, additional, Timofeeva, Maria N, additional, Chen, Zhishan, additional, Fernandez-Rozadilla, Ceres, additional, Law, Philip J, additional, Murphy, Neil, additional, Carreras-Torres, Robert, additional, Diez-Obrero, Virginia, additional, van Duijnhoven, Franzel JB, additional, Jiang, Shangqing, additional, Shin, Aesun, additional, Wolk, Alicja, additional, Phipps, Amanda I, additional, Burnett-Hartman, Andrea, additional, Gsur, Andrea, additional, Chan, Andrew T, additional, Zauber, Ann G, additional, Wu, Anna H, additional, Lindblom, Annika, additional, Um, Caroline Y, additional, Tangen, Catherine M, additional, Gignoux, Chris, additional, Newton, Christina, additional, Haiman, Christopher A., additional, Qu, Conghui, additional, Bishop, D Timothy, additional, Buchanan, Daniel D, additional, Crosslin, David R., additional, Conti, David V, additional, Kim, Dong-Hyun, additional, Hauser, Elizabeth, additional, White, Emily, additional, Siegel, Erin, additional, Schumacher, Fredrick R, additional, Rennert, Gad, additional, Giles, Graham G, additional, Hampel, Heather, additional, Brenner, Hermann, additional, Oze, Isao, additional, Oh, Jae Hwan, additional, Lee, Jeffrey K, additional, Schneider, Jennifer L, additional, Chang-Claude, Jenny, additional, Kim, Jeongseon, additional, Huyghe, Jeroen R, additional, Zheng, Jiayin, additional, Hampe, Jochen, additional, Greenson, Joel, additional, Hopper, John L, additional, Palmer, Julie R, additional, Visvanathan, Kala, additional, Matsuo, Keitaro, additional, Matsuda, Koichi, additional, Jung, Keum Ji, additional, Li, Li, additional, Marchand, Loic Le, additional, Vodickova, Ludmila, additional, Bujanda, Luis, additional, Gunter, Marc J, additional, Matejcic, Marco, additional, Jenkins, Mark A, additional, Slattery, Martha L, additional, D’Amato, Mauro, additional, Wang, Meilin, additional, Hoffmeister, Michael, additional, Woods, Michael O, additional, Kim, Michelle, additional, Song, Mingyang, additional, Iwasaki, Motoki, additional, Du, Mulong, additional, Udaltsova, Natalia, additional, Sawada, Norie, additional, Vodicka, Pavel, additional, Campbell, Peter T, additional, Newcomb, Polly A, additional, Cai, Qiuyin, additional, Pearlman, Rachel, additional, Pai, Rish K, additional, Schoen, Robert E, additional, Steinfelder, Robert S, additional, Haile, Robert W, additional, Vandenputtelaar, Rosita, additional, Prentice, Ross L, additional, Küry, Sébastien, additional, Castellví-Bel, Sergi, additional, Tsugane, Shoichiro, additional, Berndt, Sonja I, additional, Lee, Soo Chin, additional, Brezina, Stefanie, additional, Weinstein, Stephanie J, additional, Chanock, Stephen J, additional, Jee, Sun Ha, additional, Kweon, Sun-Seog, additional, Vadaparampil, Susan, additional, Harrison, Tabitha A, additional, Yamaji, Taiki, additional, Keku, Temitope O, additional, Vymetalkova, Veronika, additional, Arndt, Volker, additional, Jia, Wei-Hua, additional, Shu, Xiao-Ou, additional, Lin, Yi, additional, Ahn, Yoon-Ok, additional, Stadler, Zsofia K, additional, Van Guelpen, Bethany, additional, Ulrich, Cornelia M, additional, Platz, Elizabeth A, additional, Potter, John D, additional, Li, Christopher I, additional, Meester, Reinier, additional, Moreno, Victor, additional, Figueiredo, Jane C, additional, Casey, Graham, additional, Vogelaar, Iris Landorp, additional, Dunlop, Malcolm G, additional, Gruber, Stephen B, additional, Hayes, Richard B, additional, Pharoah, Paul D P, additional, Houlston, Richard S, additional, Jarvik, Gail P, additional, Tomlinson, Ian P, additional, Zheng, Wei, additional, Corley, Douglas A, additional, Peters, Ulrike, additional, and Hsu, Li, additional

Published
2023
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40. Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort

Author

Su, Yu-Ru, primary, Sakoda, Lori C., additional, Jeon, Jihyoun, additional, Thomas, Minta, additional, Lin, Yi, additional, Schneider, Jennifer L., additional, Udaltsova, Natalia, additional, Lee, Jeffrey K., additional, Lansdorp-Vogelaar, Iris, additional, Peterse, Elisabeth F.P., additional, Zauber, Ann G., additional, Zheng, Jiayin, additional, Zheng, Yingye, additional, Hauser, Elizabeth, additional, Baron, John A., additional, Barry, Elizabeth L., additional, Bishop, D. Timothy, additional, Brenner, Hermann, additional, Buchanan, Daniel D., additional, Burnett-Hartman, Andrea, additional, Campbell, Peter T., additional, Casey, Graham, additional, Castellví-Bel, Sergi, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Figueiredo, Jane C., additional, Gallinger, Steven J., additional, Giles, Graham G., additional, Gruber, Stephen B., additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Hampe, Jochen, additional, Hampel, Heather, additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, Hua, Xinwei, additional, Huyghe, Jeroen R., additional, Jenkins, Mark A., additional, Keku, Temitope O., additional, Marchand, Loic Le, additional, Li, Li, additional, Lindblom, Annika, additional, Moreno, Victor, additional, Newcomb, Polly A., additional, Pharoah, Paul D.P., additional, Platz, Elizabeth A., additional, Potter, John D., additional, Qu, Conghui, additional, Rennert, Gad, additional, Schoen, Robert E., additional, Slattery, Martha L., additional, Song, Mingyang, additional, van Duijnhoven, Fränzel J.B., additional, Van Guelpen, Bethany, additional, Vodicka, Pavel, additional, Wolk, Alicja, additional, Woods, Michael O., additional, Wu, Anna H., additional, Hayes, Richard B., additional, Peters, Ulrike, additional, Corley, Douglas A., additional, and Hsu, Li, additional

Published
2023
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41. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

Author

Schubert, Stephanie A, Ruano, Dina, Elsayed, Fadwa A, Boot, Arnoud, Crobach, Stijn, Sarasqueta, Arantza Farina, Wolffenbuttel, Bruce, van der Klauw, Melanie M, Oosting, Jan, Tops, Carli M, van Eijk, Ronald, Vasen, Hans FA, Vossen, Rolf HAM, Nielsen, Maartje, Castellví-Bel, Sergi, Ruiz-Ponte, Clara, Tomlinson, Ian, Dunlop, Malcolm G, Vodicka, Pavel, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans, de Miranda, Noel FCC, Sijmons, Rolf H, and van Wezel, Tom

Published
2017
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42. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Author

Fernandez-Rozadilla, Ceres, primary, Timofeeva, Maria, additional, Chen, Zhishan, additional, Law, Philip, additional, Thomas, Minta, additional, Schmit, Stephanie, additional, Díez-Obrero, Virginia, additional, Hsu, Li, additional, Fernandez-Tajes, Juan, additional, Palles, Claire, additional, Sherwood, Kitty, additional, Briggs, Sarah, additional, Svinti, Victoria, additional, Donnelly, Kevin, additional, Farrington, Susan, additional, Blackmur, James, additional, Vaughan-Shaw, Peter, additional, Shu, Xiao-ou, additional, Long, Jirong, additional, Cai, Qiuyin, additional, Guo, Xingyi, additional, Lu, Yingchang, additional, Broderick, Peter, additional, Studd, James, additional, Huyghe, Jeroen, additional, Harrison, Tabitha, additional, Conti, David, additional, Dampier, Christopher, additional, Devall, Mathew, additional, Schumacher, Fredrick, additional, Melas, Marilena, additional, Rennert, Gad, additional, Obón-Santacana, Mireia, additional, Martín-Sánchez, Vicente, additional, Moratalla-Navarro, Ferran, additional, Oh, Jae Hwan, additional, Kim, Jeongseon, additional, Jee, Sun Ha, additional, Jung, Keum Ji, additional, Kweon, Sun-Seog, additional, Shin, Min-Ho, additional, Shin, Aesun, additional, Ahn, Yoon-Ok, additional, Kim, Dong-Hyun, additional, Oze, Isao, additional, Wen, Wanqing, additional, Matsuo, Keitaro, additional, Matsuda, Koichi, additional, Tanikawa, Chizu, additional, Ren, Zefang, additional, Gao, Yu-Tang, additional, Jia, Wei-Hua, additional, Hopper, John, additional, Jenkins, Mark, additional, Win, Aung Ko, additional, Pai, Rish, additional, Figueiredo, Jane, additional, Haile, Robert, additional, Gallinger, Steven, additional, Woods, Michael, additional, Newcomb, Polly, additional, Duggan, David, additional, Cheadle, Jeremy, additional, Kaplan, Richard, additional, Maughan, Timothy, additional, Kerr, Rachel, additional, Kerr, David, additional, Kirac, Iva, additional, Böhm, Jan, additional, Mecklin, Lukka-Pekka, additional, Jousilahti, Pekka, additional, Knekt, Paul, additional, Aaltonen, Lauri, additional, Rissanen, Harri, additional, Pukkala, Eero, additional, Eriksson, Johan, additional, Cajuso, Tatiana, additional, Hänninen, Ulrika, additional, Kondelin, Johanna, additional, Palin, Kimmo, additional, Tanskanen, Tomas, additional, Renkonen-Sinisalo, Laura, additional, Zanke, Brent, additional, Männistö, Satu, additional, Albanes, Demetrius, additional, Weinstein, Stephanie, additional, Ruiz-Narvaez, Edward, additional, Palmer, Julie, additional, Buchanan, Daniel, additional, Platz, Elizabeth, additional, Visvanathan, Kala, additional, Ulrich, Cornelia, additional, Siegel, Erin, additional, Brezina, Stefanie, additional, Gsur, Andrea, additional, Campbell, Peter, additional, Chang-Claude, Jenny, additional, Hoffmeister, Michael, additional, Brenner, Hermann, additional, Slattery, Martha, additional, Potter, John, additional, Tsilidis, Konstantinos, additional, Schulze, Matthias, additional, Gunter, Marc, additional, Murphy, Neil, additional, Castells, Antoni, additional, Castellví-Bel, Sergi, additional, Moreira, Leticia, additional, Arndt, Volker, additional, Shcherbina, Anna, additional, Stern, Mariana, additional, Pardamean, Bens, additional, Bishop, Timothy, additional, Giles, Graham, additional, Southey, Melissa, additional, Idos, Gregory, additional, McDonnell, Kevin, additional, Abu-Ful, Zomoroda, additional, Greenson, Joel, additional, Shulman, Katerina, additional, Lejbkowicz, Flavio, additional, Offit, Kenneth, additional, Su, Yu-Ru, additional, Steinfelder, Robert, additional, Keku, Temitope, additional, van Guelpen, Bethany, additional, Hudson, Thomas, additional, Hampel, Heather, additional, Pearlman, Rachel, additional, Berndt, Sonja, additional, Hayes, Richard, additional, Martinez, Marie Elena, additional, Thomas, Sushma, additional, Corley, Douglas, additional, Pharoah, Paul, additional, Larsson, Susanna, additional, Yen, Yun, additional, Lenz, Heinz-Josef, additional, White, Emily, additional, Li, Li, additional, Doheny, Kimberly, additional, Pugh, Elizabeth, additional, Shelford, Tameka, additional, Chan, Andrew, additional, Cruz-Correa, Marcia, additional, Lindblom, Annika, additional, Hunter, David, additional, Joshi, Amit, additional, Schafmayer, Clemens, additional, Scacheri, Peter, additional, Kundaje, Anshul, additional, Nickerson, Deborah, additional, Schoen, Robert, additional, Hampe, Jochen, additional, Stadler, Zsofia, additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, Vymetalkova, Veronika, additional, Papadopoulos, Nickolas, additional, Edlund, Chistopher, additional, Gauderman, William, additional, Thomas, Duncan, additional, Shibata, David, additional, Toland, Amanda, additional, Markowitz, Sanford, additional, Kim, Andre, additional, Chanock, Stephen, additional, van Duijnhoven, Franzel, additional, Feskens, Edith, additional, Sakoda, Lori, additional, Gago-Dominguez, Manuela, additional, Wolk, Alicja, additional, Naccarati, Alessio, additional, Pardini, Barbara, additional, FitzGerald, Liesel, additional, Lee, Soo Chin, additional, Ogino, Shuji, additional, Bien, Stephanie, additional, Kooperberg, Charles, additional, Li, Christopher, additional, Lin, Yi, additional, Prentice, Ross, additional, Qu, Conghui, additional, Bézieau, Stéphane, additional, Tangen, Catherine, additional, Mardis, Elaine, additional, Yamaji, Taiki, additional, Sawada, Norie, additional, Iwasaki, Motoki, additional, Haiman, Christopher, additional, Le Marchand, Loic, additional, Wu, Anna, additional, Qu, Chenxu, additional, McNeil, Caroline, additional, Coetzee, Gerhard, additional, Hayward, Caroline, additional, Deary, Ian, additional, Harris, Sarah, additional, Theodoratou, Evropi, additional, Reid, Stuart, additional, Walker, Marion, additional, Ooi, Li Yin, additional, Moreno, Victor, additional, Casey, Graham, additional, Gruber, Stephen, additional, Tomlinson, Ian, additional, Zheng, Wei, additional, Dunlop, Malcolm, additional, Houlston, Richard, additional, and Peters, Ulrike, additional

Published
2022
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44. Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening

Author

Arnau-Collell, Coral, primary, Díez-Villanueva, Anna, additional, Bellosillo, Beatriz, additional, Augé, Josep M., additional, Muñoz, Jenifer, additional, Guinó, Elisabet, additional, Moreira, Leticia, additional, Serradesanferm, Anna, additional, Pozo, Àngels, additional, Torà-Rocamora, Isabel, additional, Bonjoch, Laia, additional, Ibañez-Sanz, Gemma, additional, Obon-Santacana, Mireia, additional, Moratalla-Navarro, Ferran, additional, Sanz-Pamplona, Rebeca, additional, Márquez Márquez, Carmen, additional, Rueda Miret, Rebeca, additional, Pérez Berbegal, Rocio, additional, Piquer Velasco, Gabriel, additional, Hernández Rodríguez, Cristina, additional, Grau, Jaume, additional, Castells, Antoni, additional, Borràs, Josep M., additional, Bessa, Xavier, additional, Moreno, Victor, additional, and Castellví-Bel, Sergi, additional

Published
2022
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45. Tu1100: HETEROZYGOUS MUTATIONS IN DNA REPAIR GENES CONFER GENETIC SUSCEPTIILITY TO COLORECTAL CANCER AMONG LYNCH-LIKE CASES

Author

Giner-Calabuig, Mar, primary, Leon, Seila V. De, additional, Vidal-Pedrola, Gemma, additional, Fehlmann, Tara D., additional, Ukaegbu, Chinedu, additional, Gibson, Joanna, additional, Picó, Maria Dolores, additional, Alenda, Cristina, additional, Reyes, Jose, additional, Ortega, Silvia P., additional, LLado, Catalina, additional, Rubio, Paloma de la Torre, additional, Obrador-Hevia, Antònia, additional, Castillejo, Adela, additional, Soto, Jose Luis, additional, Castellví-Bel, Sergi, additional, Syngal, Sapna, additional, Stoffel, Elena M., additional, Ellis, Nathan A., additional, Jover, Rodrigo, additional, Llor, Xavier, additional, and Xicola, Rosa M., additional

Published
2022
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46. Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening

Author

Arnau Collell, Coral, Díez Villanueva, Anna, Bellosillo Paricio, Beatriz, Augé, Josep M., Muñoz, Jenifer, Guinó, Elisabet, Moreira, Leticia, Serradesanferm, Anna, Pozo, Àngels, Torà Rocamora, Isabel, Bonjoch, Laia, Ibañez Sanz, Gemma, Obon Santacana, Mireia, Moratalla Navarro, Ferran, Sanz Pamplona, Rebeca, Márquez Márquez, Carmen, Rueda Miret, Rebeca, Pérez Berbegal, Rocio, Piquer Velasco, Gabriel, Hernández Rodríguez, Cristina, Grau, Jaume, Castells, Antoni, Borràs, Josep Maria, Bessa i Caserras, Xavier, Moreno, Víctor, Castellví Bel, Sergi, and CRIPREV consortium

Subjects
Male, Multifactorial Inheritance, Factors de risc en les malalties, Medical screening, Risk factors in diseases, Epidemiology, Colonoscopy, Colorectal cancer, Còlon--Càncer, Cribratge, Oncology, Càncer colorectal, Risk Factors, Occult Blood, Marcadors bioquímics, Mortalitat, Humans, Mass Screening, Female, Colorectal Neoplasms, Early Detection of Cancer
Abstract

Background: Colorectal cancer has high incidence and associated mortality worldwide. Screening programs are recommended for men and women over 50. Intermediate screens such as fecal immunochemical testing (FIT) select patients for colonoscopy with suboptimal sensitivity. Additional biomarkers could improve the current scenario. Methods: We included 2,893 individuals with a positive FIT test. They were classified as cases when a high-risk lesion for colorectal cancer was detected after colonoscopy, whereas the control group comprised individuals with low-risk or no lesions. 65 colorectal cancer risk genetic variants were genotyped. Polygenic risk score (PRS) and additive models for risk prediction incorporating sex, age, FIT value, and PRS were generated. Results: Risk score was higher in cases compared with controls [per allele OR = 1.04; 95% confidence interval (CI), 1.02–1.06; P < 0.0001]. A 2-fold increase in colorectal cancer risk was observed for subjects in the highest decile of risk alleles (≥65), compared with those in the first decile (≤54; OR = 2.22; 95% CI, 1.59–3.12; P < 0.0001). The model combining sex, age, FIT value, and PRS reached the highest accuracy for identifying patients with a high-risk lesion [cross-validated area under the ROC curve (AUROC): 0.64; 95% CI, 0.62–0.66]. Conclusions: This is the first investigation analyzing PRS in a two-step colorectal cancer screening program. PRS could improve current colorectal cancer screening, most likely for higher at-risk subgroups. However, its capacity is limited to predict colorectal cancer risk status and should be complemented by additional biomarkers. Impact: PRS has capacity for risk stratification of colorectal cancer suggesting its potential for optimizing screening strategies alongside with other biomarkers.

Published
2022

47. Microbiome Profiling from Fecal Immunochemical Test Reveals Microbial Signatures with Potential for Colorectal Cancer Screening.

Author

Khannous-Lleiffe, Olfat, Willis, Jesse R., Saus, Ester, Moreno, Victor, Castellví-Bel, Sergi, and Gabaldón, Toni

Subjects
IMMUNOCHEMISTRY, BIOMARKERS, MICROBIOLOGY, PHENOMENOLOGICAL biology, EARLY detection of cancer, RNA, MACHINE learning, FECES, COLORECTAL cancer, RESEARCH funding, DIAGNOSTIC errors
Abstract

Simple Summary: Colorectal cancer (CRC) is a global healthcare challenge that involves both genetic and environmental factors. Several pieces of evidence suggest that alterations of the gut microbiome can influence CRC development. In the present study we analyzed 16S rRNA sequencing data from fecal immunochemical test (FIT) samples from a large cohort, observing a predictive potential of the microbiome, revealing changes along the path from healthy tissue to carcinoma. Our work has implications in the understanding of the roles of microbes on the adenoma to carcinoma progression and opens the door to an improvement of the current CRC screening programmes. Colorectal cancer (CRC) is the third most common cancer and the second leading cause of cancer deaths worldwide. Early diagnosis of CRC, which saves lives and enables better outcomes, is generally implemented through a two-step population screening approach based on the use of Fecal Immunochemical Test (FIT) followed by colonoscopy if the test is positive. However, the FIT step has a high false positive rate, and there is a need for new predictive biomarkers to better prioritize cases for colonoscopy. Here we used 16S rRNA metabarcoding from FIT positive samples to uncover microbial taxa, taxon co-occurrence and metabolic features significantly associated with different colonoscopy outcomes, underscoring a predictive potential and revealing changes along the path from healthy tissue to carcinoma. Finally, we used machine learning to develop a two-phase classifier which reduces the current false positive rate while maximizing the inclusion of CRC and clinically relevant samples. [ABSTRACT FROM AUTHOR]

Published
2023
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48. Editorial: Innovative translational research to identify colorectal cancer biomarkers for personalized medicine.

Author

Castellví-Bel, Sergi and Carvalho, Beatriz

Subjects
TUMOR markers, COLORECTAL cancer, INDIVIDUALIZED medicine, TRANSLATIONAL research, RECESSIVE genes, ADENOMATOUS polyps, FECAL occult blood tests
Abstract

This article, published in Frontiers in Genetics, discusses innovative translational research aimed at identifying colorectal cancer biomarkers for personalized medicine. Colorectal cancer is a prevalent and deadly disease, and there is a need for improved screening, early detection, and disease follow-up methods. The article includes six research articles that explore different aspects of colorectal cancer biomarkers, such as the characterization of NTHL1 tumor syndrome, the role of genetic variants in treatment response, the effectiveness of fecal DNA tests for screening, and the clonal dynamics of drug resistance. Additionally, the article discusses the establishment of immune-related gene prognostic indices for evaluating prognosis in colorectal cancer patients. [Extracted from the article]

Published
2024
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49. Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma

Author

Sánchez, Ariadna, primary, Bujanda, Luis, additional, Cuatrecasas, Miriam, additional, Bofill, Alex, additional, Alvarez-Urturi, Cristina, additional, Hernandez, Goretti, additional, Aguilera, Lara, additional, Carballal, Sabela, additional, Llach, Joan, additional, Herrera-Pariente, Cristina, additional, Iglesias, Mar, additional, Rivero-Sánchez, Liseth, additional, Jung, Gerhard, additional, Moreno, Lorena, additional, Ocaña, Teresa, additional, Bayarri, Carolina, additional, Pellise, Maria, additional, Castells, Antoni, additional, Castellví-Bel, Sergi, additional, Balaguer, Francesc, additional, and Moreira, Leticia, additional

Published
2021
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50. Salicylic Acid and Risk of Colorectal Cancer: A Two-Sample Mendelian Randomization Study

Author

Nounu, Aayah, primary, Richmond, Rebecca, additional, Stewart, Isobel, additional, Surendran, Praveen, additional, Wareham, Nicholas, additional, Butterworth, Adam, additional, Weinstein, Stephanie, additional, Albanes, Demetrius, additional, Baron, John, additional, Hopper, John, additional, Figueiredo, Jane, additional, Newcomb, Polly, additional, Lindor, Noralane, additional, Casey, Graham, additional, Platz, Elizabeth, additional, Marchand, Loïc, additional, Ulrich, Cornelia, additional, Li, Christopher, additional, van Dujinhoven, Fränzel, additional, Gsur, Andrea, additional, Campbell, Peter, additional, Moreno, Víctor, additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, Amitay, Efrat, additional, Alwers, Elizabeth, additional, Chang-Claude, Jenny, additional, Sakoda, Lori, additional, Slattery, Martha, additional, Schoen, Robert, additional, Gunter, Marc, additional, Castellví-Bel, Sergi, additional, Kim, Hyeong-Rok, additional, Kweon, Sun-Seog, additional, Chan, Andrew, additional, Li, Li, additional, Zheng, Wei, additional, Bishop, D., additional, Buchanan, Daniel, additional, Giles, Graham, additional, Gruber, Stephen, additional, Rennert, Gad, additional, Stadler, Zsofia, additional, Harrison, Tabitha, additional, Lin, Yi, additional, Keku, Temitope, additional, Woods, Michael, additional, Schafmayer, Clemens, additional, Van Guelpen, Bethany, additional, Gallinger, Steven, additional, Hampel, Heather, additional, Berndt, Sonja, additional, Pharoah, Paul, additional, Lindblom, Annika, additional, Wolk, Alicja, additional, Wu, Anna, additional, White, Emily, additional, Peters, Ulrike, additional, Drew, David, additional, Scherer, Dominique, additional, Bermejo, Justo, additional, Brenner, Hermann, additional, Hoffmeister, Michael, additional, Williams, Ann, additional, and Relton, Caroline, additional

Published
2021
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