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649 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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3. Genetically determined circulating resistin concentrations and risk of colorectal cancer: a two-sample Mendelian randomization study

Author: Pham, Thu Thi, Nimptsch, Katharina, Papadimitriou, Nikos, Aleksandrova, Krasimira, Jenab, Mazda, Gunter, Marc J., Le Marchand, Loic, Li, Li, Lynch, Brigid M., Castellví-Bel, Sergi, Phipps, Amanda I., Schmit, Stephanie L., Brenner, Hermann, Ogino, Shuji, Giovannucci, Edward, and Pischon, Tobias
Published: 2023
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4. 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

5. 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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6. 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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7. 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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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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9. Molecular functions of MCM8 and MCM9 and their associated pathologies

Author: Helderman, Noah Cornelis, Terlouw, Diantha, Bonjoch, Laia, Golubicki, Mariano, Antelo, Marina, Morreau, Hans, van Wezel, Tom, Castellví-Bel, Sergi, Goldberg, Yael, and Nielsen, Maartje
Published: 2023
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10. Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.

Author: Llargués-Sistac, Gemma, Bonjoch, Laia, Muñoz, Jenifer, Domínguez-Rovira, Xavier, Ocaña, Teresa, Alvarez-Mora, Maria Isabel, Badenas, Celia, Esteve-Codina, Anna, Reyes-Silva, Carlos, Jaramillo-Koupermann, Gabriela, Rodrigo, Maria Teresa, López-Prades, Sandra, Cuatrecasas, Miriam, Castells, Antoni, Balaguer, Francesc, Moreira, Leticia, Fernandez, Guerau, and Castellví-Bel, Sergi
Published: 2025
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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. Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.

Author: Llach, Joan, Luzko, Irina, Earl, Julie, Barreto, Emma, Rodríguez-Garrote, Mercedes, Lleixà, Marc, Herrera-Pariente, Cristina, Fernández, Guerau, Munoz, Jenifer, Bonjoch, Laia, Saurí, Tamara, Ausania, Fabio, Ocaña, Teresa, Moreno, Lorena, Grau, Elia, Oriola, Josep, Alvarez-Mora, Maria Isabel, Herreros-Villanueva, Marta, Castellví-Bel, Sergi, and Balaguer, Francesc
Subjects: ADENOCARCINOMA, BRCA genes, RESEARCH funding, DESCRIPTIVE statistics, PANCREATIC tumors, ODDS ratio, DUCTAL carcinoma, UNIVERSAL healthcare, RESEARCH, GENETIC mutation, DISEASE susceptibility, GENETIC testing, GENETICS, SEQUENCE analysis
Abstract: Simple Summary: If we relied solely on clinical criteria for genetic testing, about half of pancreatic cancer patients with a germline pathogenic variant would be missed and classified as sporadic cancers. Patients over 60 years old with no relevant family history of cancer exhibited low probabilities of harboring any pathogenic variants. The age "<60 years" could serve as a cut-off point in regions where germline genetic testing is not routinely performed. Background: Pancreatic ductal adenocarcinoma (PDAC) is associated with a significant percentage of germline pathogenic variants (GPVs). Unlike in the United States, routine universal genetic testing is not performed in Europe. The aim of the study is to evaluate the diagnostic yield of germline genetic testing in all patients with PDAC. Methods: Individuals with newly diagnosed PDAC from three Spanish hospitals were enrolled, regardless of family history. Thirteen known susceptibility genes for PDAC were studied using a multigene panel or whole-exome sequencing. Results: One hundred seventy-nine PDAC patients underwent genetic testing. Fourteen (7.8%) had a GPV or likely pathogenic variant In the genes studied: six in ATM, six in BRCA2, one in PALB2, and one in TP53. Of these, seven (50%) did not meet the clinical criteria for genetic study and would have been classified as sporadic PDAC. Presenting with a personal history of any other neoplasm was associated with some GPV, with an odds ratio (OR) of 3.5 (1.1–11.5). A family history of PDAC and breast cancer was also associated with some GPV, with oRs of 3.7 (1.08–13.6) and 8.5 (2.6–26.6), respectively. None of the patients over 60 years without a relevant family history of malignancies presented a GPV associated with PDAC. Conclusions: In our PDAC cohort, a noteworthy number of GPVs were identified, and half of these patients would have been classified as sporadic based solely on clinical criteria. Genetic testing should always be considered, particularly in patients under 60 years or those with a history of other malignancies, especially where economic resources need optimization. [ABSTRACT FROM AUTHOR]
Published: 2024
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14. Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis

Author: Jarvik, Gail P., Wang, Xiaoliang, Fontanillas, Pierre, Kim, Esther, Chanprasert, Sirisak, Gordon, Adam S., Bastarache, Lisa, Kowdley, Kris V., Harrison, Tabitha, Rosenthal, Elisabeth A., Stanaway, Ian B., Bézieau, Stéphane, Weinstein, Stephanie J., Newcomb, Polly A., Casey, Graham, Platz, Elizabeth A., Visvanathan, Kala, Le Marchand, Loic, Ulrich, Cornelia M., Hardikar, Sheetal, Li, Christopher I., van Duijnhoven, Franzel J.B., Gsur, Andrea, Campbell, Peter T., Moreno, Victor, Vodička, Pavel, Brenner, Hermann, Chang-Claude, Jenny, Hoffmeister, Michael, Slattery, Martha L., Gunter, Marc J., Aglago, Elom K., Castellví-Bel, Sergi, Kweon, Sun-Seog, Chan, Andrew T., Li, Li, Zheng, Wei, Bishop, D. Timothy, Giles, Graham G., Rennert, Gad, Offit, Kenneth, Keku, Temitope O., Woods, Michael O., Hampe, Jochen, Van Guelpen, Bethan, Gallinger, Steven J., de la Chapelle, Albert, Hampel, Heather, Berndt, Sonja I., Tangen, Catherine M., Lindblom, Annika, Wolk, Alicja, Burnett-Hartman, Andrea, Wu, Anna H., White, Emily, Gruber, Stephen B., Jenkins, Mark A., Mountain, Joanna, Peters, Ulrike, and Crosslin, David R.
Published: 2020
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15. Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

Author: Thomas, Minta, Sakoda, Lori C., Hoffmeister, Michael, Rosenthal, Elisabeth A., Lee, Jeffrey K., van Duijnhoven, Franzel J.B., Platz, Elizabeth A., Wu, Anna H., Dampier, Christopher H., de la Chapelle, Albert, Wolk, Alicja, Joshi, Amit D., Burnett-Hartman, Andrea, Gsur, Andrea, Lindblom, Annika, Castells, Antoni, Win, Aung Ko, Namjou, Bahram, Van Guelpen, Bethany, Tangen, Catherine M., He, Qianchuan, Li, Christopher I., Schafmayer, Clemens, Joshu, Corinne E., Ulrich, Cornelia M., Bishop, D. Timothy, Buchanan, Daniel D., Schaid, Daniel, Drew, David A., Muller, David C., Duggan, David, Crosslin, David R., Albanes, Demetrius, Giovannucci, Edward L., Larson, Eric, Qu, Flora, Mentch, Frank, Giles, Graham G., Hakonarson, Hakon, Hampel, Heather, Stanaway, Ian B., Figueiredo, Jane C., Huyghe, Jeroen R., Minnier, Jessica, Chang-Claude, Jenny, Hampe, Jochen, Harley, John B., Visvanathan, Kala, Curtis, Keith R., Offit, Kenneth, Li, Li, Le Marchand, Loic, Vodickova, Ludmila, Gunter, Marc J., Jenkins, Mark A., Slattery, Martha L., Lemire, Mathieu, Woods, Michael O., Song, Mingyang, Murphy, Neil, Lindor, Noralane M., Dikilitas, Ozan, Pharoah, Paul D.P., Campbell, Peter T., Newcomb, Polly A., Milne, Roger L., MacInnis, Robert J., Castellví-Bel, Sergi, Ogino, Shuji, Berndt, Sonja I., Bézieau, Stéphane, Thibodeau, Stephen N., Gallinger, Steven J., Zaidi, Syed H., Harrison, Tabitha A., Keku, Temitope O., Hudson, Thomas J., Vymetalkova, Veronika, Moreno, Victor, Martín, Vicente, Arndt, Volker, Wei, Wei-Qi, Chung, Wendy, Su, Yu-Ru, Hayes, Richard B., White, Emily, Vodicka, Pavel, Casey, Graham, Gruber, Stephen B., Schoen, Robert E., Chan, Andrew T., Potter, John D., Brenner, Hermann, Jarvik, Gail P., Corley, Douglas A., Peters, Ulrike, and Hsu, Li
Published: 2020
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16. Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer

Author: Bonjoch, Laia, Franch-Expósito, Sebastià, Garre, Pilar, Belhadj, Sami, Muñoz, Jenifer, Arnau-Collell, Coral, Díaz-Gay, Marcos, Gratacós-Mulleras, Anna, Raimondi, Giulia, Esteban-Jurado, Clara, Soares de Lima, Yasmin, Herrera-Pariente, Cristina, Cuatrecasas, Miriam, Ocaña, Teresa, Castells, Antoni, Fillat, Cristina, Capellá, Gabriel, Balaguer, Francesc, Caldés, Trinidad, Valle, Laura, and Castellví-Bel, Sergi
Published: 2020
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17. Cumulative Burden of Colorectal Cancer–Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer

Author: Archambault, Alexi N., Su, Yu-Ru, Jeon, Jihyoun, Thomas, Minta, Lin, Yi, Conti, David V., Win, Aung Ko, Sakoda, Lori C., Lansdorp-Vogelaar, Iris, Peterse, Elisabeth F.P., Zauber, Ann G., Duggan, David, Holowatyj, Andreana N., Huyghe, Jeroen R., Brenner, Hermann, Cotterchio, Michelle, Bézieau, Stéphane, Schmit, Stephanie L., Edlund, Christopher K., Southey, Melissa C., MacInnis, Robert J., Campbell, Peter T., Chang-Claude, Jenny, Slattery, Martha L., Chan, Andrew T., Joshi, Amit D., Song, Mingyang, Cao, Yin, Woods, Michael O., White, Emily, Weinstein, Stephanie J., Ulrich, Cornelia M., Hoffmeister, Michael, Bien, Stephanie A., Harrison, Tabitha A., Hampe, Jochen, Li, Christopher I., Schafmayer, Clemens, Offit, Kenneth, Pharoah, Paul D., Moreno, Victor, Lindblom, Annika, Wolk, Alicja, Wu, Anna H., Li, Li, Gunter, Marc J., Gsur, Andrea, Keku, Temitope O., Pearlman, Rachel, Bishop, D. Timothy, Castellví-Bel, Sergi, Moreira, Leticia, Vodicka, Pavel, Kampman, Ellen, Giles, Graham G., Albanes, Demetrius, Baron, John A., Berndt, Sonja I., Brezina, Stefanie, Buch, Stephan, Buchanan, Daniel D., Trichopoulou, Antonia, Severi, Gianluca, Chirlaque, María-Dolores, Sánchez, Maria-José, Palli, Domenico, Kühn, Tilman, Murphy, Neil, Cross, Amanda J., Burnett-Hartman, Andrea N., Chanock, Stephen J., de la Chapelle, Albert, Easton, Douglas F., Elliott, Faye, English, Dallas R., Feskens, Edith J.M., FitzGerald, Liesel M., Goodman, Phyllis J., Hopper, John L., Hudson, Thomas J., Hunter, David J., Jacobs, Eric J., Joshu, Corinne E., Küry, Sébastien, Markowitz, Sanford D., Milne, Roger L., Platz, Elizabeth A., Rennert, Gad, Rennert, Hedy S., Schumacher, Fredrick R., Sandler, Robert S., Seminara, Daniela, Tangen, Catherine M., Thibodeau, Stephen N., Toland, Amanda E., van Duijnhoven, Franzel J.B., Visvanathan, Kala, Vodickova, Ludmila, Potter, John D., Männistö, Satu, Weigl, Korbinian, Figueiredo, Jane, Martín, Vicente, Larsson, Susanna C., Parfrey, Patrick S., Huang, Wen-Yi, Lenz, Heinz-Josef, Castelao, Jose E., Gago-Dominguez, Manuela, Muñoz-Garzón, Victor, Mancao, Christoph, Haiman, Christopher A., Wilkens, Lynne R., Siegel, Erin, Barry, Elizabeth, Younghusband, Ban, Van Guelpen, Bethany, Harlid, Sophia, Zeleniuch-Jacquotte, Anne, Liang, Peter S., Du, Mengmeng, Casey, Graham, Lindor, Noralane M., Le Marchand, Loic, Gallinger, Steven J., Jenkins, Mark A., Newcomb, Polly A., Gruber, Stephen B., Schoen, Robert E., Hampel, Heather, Corley, Douglas A., Hsu, Li, Peters, Ulrike, and Hayes, Richard B.
Published: 2020
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18. Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses

Author: Murphy, Neil, Carreras-Torres, Robert, Song, Mingyang, Chan, Andrew T., Martin, Richard M., Papadimitriou, Nikos, Dimou, Niki, Tsilidis, Konstantinos K., Banbury, Barbara, Bradbury, Kathryn E., Besevic, Jelena, Rinaldi, Sabina, Riboli, Elio, Cross, Amanda J., Travis, Ruth C., Agnoli, Claudia, Albanes, Demetrius, Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Brenner, Hermann, Buchanan, Daniel D., Onland-Moret, N. Charlotte, Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chang-Claude, Jenny, Chirlaque, María-Dolores, de la Chapelle, Albert, English, Dallas, Figueiredo, Jane C., Gallinger, Steven J., 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., Keku, Temitope O., Kühn, Tilman, Kweon, Sun-Seog, Le Marchand, Loic, Li, Christopher I., Li, Li, Lindblom, Annika, Martín, Vicente, Milne, Roger L., Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Ose, Jennifer, Perduca, Vittorio, Phipps, Amanda I., Platz, Elizabeth A., Potter, John D., Qu, Conghui, Rennert, Gad, Sakoda, Lori C., Schafmayer, Clemens, Schoen, Robert E., Slattery, Martha L., Tangen, Catherine M., Ulrich, Cornelia M., van Duijnhoven, Franzel J.B., Van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Wang, Hansong, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zheng, Wei, Peters, Ulrike, and Gunter, Marc J.
Published: 2020
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19. 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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20. Characterization of additive gene-environment interactions for colorectal cancer risk

Author: Thomas, Claire E, Lin, Yi, Kim, Michelle, Kawaguchi, Eric S, Qu, Conghui, Um, Caroline Y, Lynch, Brigid M, Van Guelpen, Bethany, Tsilidis, Kostas, Carreras-Torres, Robert, van Duijnhoven, Franzel Jb, Sakoda, Lori C, Campbell, Peter T, Tian, Yu, Chang-Claude, Jenny, Bézieau, Stéphane, Budiarto, Arif, Palmer, Julie R, Newcomb, Polly A, Casey, Graham, Le Marchand, Loic, Giannakis, Marios, Li, Christopher I, Gsur, Andrea, Newton, Christina, Obón-Santacana, Mireia, Moreno, Victor, Vodicka, Pavel, Brenner, Hermann, Hoffmeister, Michael, Pellatt, Andrew J, Schoen, Robert E, Dimou, Niki, Murphy, Neil, Gunter, Marc J, Castellví-Bel, Sergi, Figueiredo, Jane C, Chan, Andrew T, Song, Mingyang, Li, Li, Bishop, D Timothy, Gruber, Stephen B, Baurley, James W, Bien, Stephanie A, Conti, David V, Huyghe, Jeroen R, Kundaje, Anshul, Su, Yu-Ru, Wang, Jun, Keku, Temitope O, Woods, Michael O, Berndt, Sonja I, Chanock, Stephen J, Tangen, Catherine M, Wolk, Alicja, Burnett-Hartman, Andrea, Wu, Anna H, White, Emily, Devall, Matthew A, Díez-Obrero, Virginia, Drew, David A, Giovannucci, Edward, Hidaka, Akihisa, Kim, Andre E, Lewinger, Juan Pablo, Morrison, John, Ose, Jennifer, Papadimitriou, Nikos, Pardamean, Bens, Peoples, Anita R, Ruiz-Narvaez, Edward A, Shcherbina, Anna, Stern, Mariana C, Chen, Xuechen, Thomas, Duncan C, Platz, Elizabeth A, Gauderman, W James, Peters, Ulrike, Hsu, Li, Thomas, Claire E, Lin, Yi, Kim, Michelle, Kawaguchi, Eric S, Qu, Conghui, Um, Caroline Y, Lynch, Brigid M, Van Guelpen, Bethany, Tsilidis, Kostas, Carreras-Torres, Robert, van Duijnhoven, Franzel Jb, Sakoda, Lori C, Campbell, Peter T, Tian, Yu, Chang-Claude, Jenny, Bézieau, Stéphane, Budiarto, Arif, Palmer, Julie R, Newcomb, Polly A, Casey, Graham, Le Marchand, Loic, Giannakis, Marios, Li, Christopher I, Gsur, Andrea, Newton, Christina, Obón-Santacana, Mireia, Moreno, Victor, Vodicka, Pavel, Brenner, Hermann, Hoffmeister, Michael, Pellatt, Andrew J, Schoen, Robert E, Dimou, Niki, Murphy, Neil, Gunter, Marc J, Castellví-Bel, Sergi, Figueiredo, Jane C, Chan, Andrew T, Song, Mingyang, Li, Li, Bishop, D Timothy, Gruber, Stephen B, Baurley, James W, Bien, Stephanie A, Conti, David V, Huyghe, Jeroen R, Kundaje, Anshul, Su, Yu-Ru, Wang, Jun, Keku, Temitope O, Woods, Michael O, Berndt, Sonja I, Chanock, Stephen J, Tangen, Catherine M, Wolk, Alicja, Burnett-Hartman, Andrea, Wu, Anna H, White, Emily, Devall, Matthew A, Díez-Obrero, Virginia, Drew, David A, Giovannucci, Edward, Hidaka, Akihisa, Kim, Andre E, Lewinger, Juan Pablo, Morrison, John, Ose, Jennifer, Papadimitriou, Nikos, Pardamean, Bens, Peoples, Anita R, Ruiz-Narvaez, Edward A, Shcherbina, Anna, Stern, Mariana C, Chen, Xuechen, Thomas, Duncan C, Platz, Elizabeth A, Gauderman, W James, Peters, Ulrike, and Hsu, Li
Abstract: BACKGROUND: Colorectal cancer (CRC) is a common, fatal cancer. Identifying subgroups who may benefit more from intervention is of critical public health importance. Previous studies have assessed multiplicative interaction between genetic risk scores and environmental factors, but few have assessed additive interaction, the relevant public health measure.METHODS: Using resources from colorectal cancer consortia including 45,247 CRC cases and 52,671 controls, we assessed multiplicative and additive interaction (relative excess risk due to interaction, RERI) using logistic regression between 13 harmonized environmental factors and genetic risk score including 141 variants associated with CRC risk.RESULTS: There was no evidence of multiplicative interaction between environmental factors and genetic risk score. There was additive interaction where, for individuals with high genetic susceptibility, either heavy drinking [RERI = 0.24, 95% confidence interval, CI, (0.13, 0.36)], ever smoking [0.11 (0.05, 0.16)], high BMI [female 0.09 (0.05, 0.13), male 0.10 (0.05, 0.14)], or high red meat intake [highest versus lowest quartile 0.18 (0.09, 0.27)] was associated with excess CRC risk greater than that for individuals with average genetic susceptibility. Conversely, we estimate those with high genetic susceptibility may benefit more from reducing CRC risk with aspirin/NSAID use [-0.16 (-0.20, -0.11)] or higher intake of fruit, fiber, or calcium [highest quartile versus lowest quartile -0.12 (-0.18, -0.050); -0.16 (-0.23, -0.09); -0.11 (-0.18, -0.05), respectively] than those with average genetic susceptibility.CONCLUSIONS: Additive interaction is important to assess for identifying subgroups who may benefit from intervention. The subgroups identified in this study may help inform precision CRC prevention.
Published: 2024

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

Author: Bouras, Emmanouil, Gill, Dipender, Zuber, Verena, Murphy, Neil, Dimou, Niki, Aleksandrova, Krasimira, Lewis, Sarah J., Martin, Richard M., Yarmolinsky, James, Albanes, Demetrius, Brenner, Hermann, Castellví-Bel, Sergi, Chan, Andrew T., Cheng, Iona, Gruber, Stephen, van Guelpen, Bethany, Li, Christopher I., Le Marchand, Loic, Newcomb, Polly A., Ogino, Shuji, Pellatt, Andrew, Schmit, Stephanie L., Wolk, Alicja, Wu, Anna H., Peters, Ulrike, Gunter, Marc J., Tsilidis, Konstantinos K., Bouras, Emmanouil, Gill, Dipender, Zuber, Verena, Murphy, Neil, Dimou, Niki, Aleksandrova, Krasimira, Lewis, Sarah J., Martin, Richard M., Yarmolinsky, James, Albanes, Demetrius, Brenner, Hermann, Castellví-Bel, Sergi, Chan, Andrew T., Cheng, Iona, Gruber, Stephen, van Guelpen, Bethany, Li, Christopher I., Le Marchand, Loic, Newcomb, Polly A., Ogino, Shuji, Pellatt, Andrew, Schmit, Stephanie L., Wolk, Alicja, Wu, Anna H., Peters, Ulrike, Gunter, Marc J., and Tsilidis, Konstantinos K.
Abstract: Background: Colorectal cancer (CRC) is the third-most-common cancer worldwide and its rates are increasing. Elevated body mass index (BMI) is an established risk factor for CRC, although the molecular mechanisms behind this association remain unclear. Using the Mendelian randomization (MR) framework, we aimed to investigate the mediating effects of putative biomarkers and other CRC risk factors in the association between BMI and CRC. Methods: We selected as mediators biomarkers of established cancer-related mechanisms and other CRC risk factors for which a plausible association with obesity exists, such as inflammatory biomarkers, glucose homeostasis traits, lipids, adipokines, insulin-like growth factor 1 (IGF1), sex hormones, 25-hydroxy-vitamin D, smoking, physical activity (PA) and alcohol consumption. We used inverse-variance weighted MR in the main univariable analyses and performed sensitivity analyses (weighted-median, MR–Egger, Contamination Mixture). We used multivariable MR for the mediation analyses. Results: Genetically predicted BMI was positively associated with CRC risk [odds ratio per SD (5 kg/m2) ¼ 1.17, 95% CI: 1.08–1.24, P-value ¼ 1.4 × 10−5] and robustly associated with nearly all potential mediators. Genetically predicted IGF1, fasting insulin, low-density lipoprotein cholesterol, smoking, PA and alcohol were associated with CRC risk. Evidence for attenuation was found for IGF1 [explained 7% (95% CI: 2–13%) of the association], smoking (31%, 4–57%) and PA (7%, 2–11%). There was little evidence for pleiotropy, although smoking was bidirectionally associated with BMI and instruments were weak for PA. Conclusions: The effect of BMI on CRC risk is possibly partly mediated through plasma IGF1, whereas the attenuation of the BMI–CRC association by smoking and PA may reflect confounding and shared underlying mechanisms rather than mediation.
Published: 2024
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22. 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, Zheng, Wei, 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
Abstract: Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.
Published: 2024
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23. Update on genetic predisposition to colorectal cancer and polyposis

Author: Valle, Laura, de Voer, Richarda M., Goldberg, Yael, Sjursen, Wenche, Försti, Asta, Ruiz-Ponte, Clara, Caldés, Trinidad, Garré, Pilar, Olsen, Maren F., Nordling, Margareta, Castellvi-Bel, Sergi, and Hemminki, Kari
Published: 2019
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24. Somatic mutational signatures in polyposis and colorectal cancer

Author: Grolleman, Judith E., Díaz-Gay, Marcos, Franch-Expósito, Sebastià, Castellví-Bel, Sergi, and de Voer, Richarda M.
Published: 2019
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25. Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition

Author: Bonjoch, Laia, Mur, Pilar, Arnau-Collell, Coral, Vargas-Parra, Gardenia, Shamloo, Bahar, Franch-Expósito, Sebastià, Pineda, Marta, Capellà, Gabriel, Erman, Batu, and Castellví-Bel, Sergi
Published: 2019
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26. The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes

Author: Castellví-Bel, Sergi
Published: 2022
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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. 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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29. 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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30. 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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31. 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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32. 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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33. 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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34. 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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35. Colon-specific eQTL analysis to inform on functional SNPs

Author: Moreno, Victor, Alonso, M. Henar, Closa, Adrià, Vallés, Xavier, Diez-Villanueva, Anna, Valle, Laura, Castellví-Bel, Sergi, Sanz-Pamplona, Rebeca, Lopez-Doriga, Adriana, Cordero, David, and Solé, Xavier
Published: 2018
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36. Reply

Author: Bonjoch, Laia, primary, Castellví-Bel, Sergi, additional, and Ruiz-Ponte, Clara, additional
Published: 2023
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37. 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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38. 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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39. 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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40. Modeling Respiratory Depression Induced by Remifentanil and Propofol during Sedation and Analgesia Using a Continuous Noninvasive Measurement of pCO2

Author: Hannam, Jacqueline A., Borrat, Xavier, Trocóniz, Iñaki F., Valencia, José F., Jensen, Erik W., Pedroso, Angela, Muñoz, Jenifer, Castellví-Bel, Sergi, Castells, Antoni, and Gambús, Pedro L.
Published: 2016
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41. 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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42. Validation of a genetic-enhanced risk prediction model for colorectal cancer in a large community-based cohort

Author: Su, Yu-Ru, Sakoda, Lori C., Jeon, Jihyoun, Thomas, Minta, Lin, Yi, Schneider, Jennifer L., Udaltsova, Natalia, Lee, Jeffrey K., Lansdorp-Vogelaar, Iris, Peterse, Elisabeth F P, Zauber, Ann G., Zheng, Jiayin, Zheng, Yingye, Hauser, Elizabeth, Baron, John A., Barry, Elizabeth L., Bishop, D Timothy, Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hua, Xinwei, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Marchand, Loic Le, Li, Li, Lindblom, Annika, Moreno, Victor, Newcomb, Polly A., Pharoah, Paul D P, Platz, Elizabeth A., Potter, John D., Qu, Conghui, Rennert, Gad, Schoen, Robert E., Slattery, Martha L., Song, Mingyang, van Duijnhoven, Fränzel J B, van Guelpen, Bethany, Vodicka, Pavel, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Hayes, Richard B., Peters, Ulrike, Corley, Douglas A., Hsu, Li, Su, Yu-Ru, Sakoda, Lori C., Jeon, Jihyoun, Thomas, Minta, Lin, Yi, Schneider, Jennifer L., Udaltsova, Natalia, Lee, Jeffrey K., Lansdorp-Vogelaar, Iris, Peterse, Elisabeth F P, Zauber, Ann G., Zheng, Jiayin, Zheng, Yingye, Hauser, Elizabeth, Baron, John A., Barry, Elizabeth L., Bishop, D Timothy, Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hua, Xinwei, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Marchand, Loic Le, Li, Li, Lindblom, Annika, Moreno, Victor, Newcomb, Polly A., Pharoah, Paul D P, Platz, Elizabeth A., Potter, John D., Qu, Conghui, Rennert, Gad, Schoen, Robert E., Slattery, Martha L., Song, Mingyang, van Duijnhoven, Fränzel J B, van Guelpen, Bethany, Vodicka, Pavel, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Hayes, Richard B., Peters, Ulrike, Corley, Douglas A., and Hsu, Li
Abstract: BACKGROUND: Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. This study externally validated a PRS-enhanced colorectal cancer risk model comprising 140 known colorectal cancer loci to provide a comprehensive assessment on prediction performance. METHODS: The model was developed using 20,338 individuals and externally validated in a community-based cohort (n = 85,221). We validated predicted 5-year absolute colorectal cancer risk, including calibration using expected-to-observed case ratios (E/O) and calibration plots, and discriminatory accuracy using time-dependent AUC. The PRS-related improvement in AUC, sensitivity and specificity were assessed in individuals of age 45 to 74 years (screening-eligible age group) and 40 to 49 years with no endoscopy history (younger-age group). RESULTS: In European-ancestral individuals, the predicted 5-year risk calibrated well [E/O = 1.01; 95% confidence interval (CI), 0.91-1.13] and had high discriminatory accuracy (AUC = 0.73; 95% CI, 0.71-0.76). Adding the PRS to a model with age, sex, family and endoscopy history improved the 5-year AUC by 0.06 (P < 0.001) and 0.14 (P = 0.05) in the screening-eligible age and younger-age groups, respectively. Using a risk-threshold of 5-year SEER colorectal cancer incidence rate at age 50 years, adding the PRS had a similar sensitivity but improved the specificity by 11% (P < 0.001) in the screening-eligible age group. In the younger-age group it improved the sensitivity by 27% (P = 0.04) with similar specificity. CONCLUSIONS: The proposed PRS-enhanced model provides a well-calibrated 5-year colorectal cancer risk prediction and improves discriminatory accuracy in the external cohort. IMPACT: The proposed model has potential utility in risk-stratified colorectal cancer prevention.
Published: 2023
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43. Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes

Author: Mahmood, Khalid, Thomas, Minta, Qu, Conghui, Wang, Xiaoliang, Huyghe, Jeroen R., Joo, Jihoon E., Georgeson, Peter, Arndt, Volker, Berndt, Sonja I., Bézieau, Stéphane, Bien, Stephanie A., Bishop, D.T., 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, van Duijnhoven, Franzel J.B., Hsu, Li, Buchanan, Daniel D., Peters, Ulrike, Mahmood, Khalid, Thomas, Minta, Qu, Conghui, Wang, Xiaoliang, Huyghe, Jeroen R., Joo, Jihoon E., Georgeson, Peter, Arndt, Volker, Berndt, Sonja I., Bézieau, Stéphane, Bien, Stephanie A., Bishop, D.T., 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, van Duijnhoven, Franzel J.B., Hsu, Li, Buchanan, Daniel D., and Peters, Ulrike
Published: 2023

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

Author: Su, Yu Ru, Sakoda, Lori C., Jeon, Jihyoun, Thomas, Minta, Lin, Yi, Schneider, Jennifer L., Udaltsova, Natalia, Lee, Jeffrey K., Lansdorp-Vogelaar, Iris, Peterse, Elisabeth F.P., Zauber, Ann G., Zheng, Jiayin, Zheng, Yingye, Hauser, Elizabeth, Baron, John A., Barry, Elizabeth L., Bishop, D.T., Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hua, Xinwei, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Marchand, Loic Le, Li, Li, Lindblom, Annika, Moreno, Victor, Newcomb, Polly A., Pharoah, Paul D.P., Platz, Elizabeth A., Potter, John D., Qu, Conghui, Rennert, Gad, Schoen, Robert E., Slattery, Martha L., Song, Mingyang, van Duijnhoven, Fränzel J.B., Van Guelpen, Bethany, Vodicka, Pavel, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Hayes, Richard B., Peters, Ulrike, Corley, Douglas A., Hsu, Li, Su, Yu Ru, Sakoda, Lori C., Jeon, Jihyoun, Thomas, Minta, Lin, Yi, Schneider, Jennifer L., Udaltsova, Natalia, Lee, Jeffrey K., Lansdorp-Vogelaar, Iris, Peterse, Elisabeth F.P., Zauber, Ann G., Zheng, Jiayin, Zheng, Yingye, Hauser, Elizabeth, Baron, John A., Barry, Elizabeth L., Bishop, D.T., Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hua, Xinwei, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Marchand, Loic Le, Li, Li, Lindblom, Annika, Moreno, Victor, Newcomb, Polly A., Pharoah, Paul D.P., Platz, Elizabeth A., Potter, John D., Qu, Conghui, Rennert, Gad, Schoen, Robert E., Slattery, Martha L., Song, Mingyang, van Duijnhoven, Fränzel J.B., Van Guelpen, Bethany, Vodicka, Pavel, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Hayes, Richard B., Peters, Ulrike, Corley, Douglas A., and Hsu, Li
Abstract: Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. This study externally validated a PRS-enhanced colorectal cancer risk model comprising 140 known colorectal cancer loci to provide a comprehensive assessment on prediction performance. METHODS: The model was developed using 20,338 individuals and externally validated in a community-based cohort (n = 85,221). We validated predicted 5-year absolute colorectal cancer risk, including calibration using expected-to-observed case ratios (E/O) and calibration plots, and discriminatory accuracy using time-dependent AUC. The PRS-related improvement in AUC, sensitivity and specificity were assessed in individuals of age 45 to 74 years (screening-eligible age group) and 40 to 49 years with no endoscopy history (younger-age group). RESULTS: In European-ancestral individuals, the predicted 5-year risk calibrated well [E/O = 1.01; 95% confidence interval (CI), 0.91-1.13] and had high discriminatory accuracy (AUC = 0.73; 95% CI, 0.71-0.76). Adding the PRS to a model with age, sex, family and endoscopy history improved the 5-year AUC by 0.06 (P < 0.001) and 0.14 (P = 0.05) in the screening-eligible age and younger-age groups, respectively. Using a risk-threshold of 5-year SEER colorectal cancer incidence rate at age 50 years, adding the PRS had a similar sensitivity but improved the specificity by 11% (P < 0.001) in the screening-eligible age group. In the younger-age group it improved the sensitivity by 27% (P = 0.04) with similar specificity. CONCLUSIONS: The proposed PRS-enhanced model provides a well-calibrated 5-year colorectal cancer risk prediction and improves discriminatory accuracy in the external cohort. IMPACT: The proposed model has potential utility in risk-stratified colorectal cancer prevention.
Published: 2023

45. 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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46. 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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47. 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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48. 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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49. 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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50. Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

Author: Esteban-Jurado, Clara, Vila-Casadesús, Maria, Garre, Pilar, Lozano, Juan José, Pristoupilova, Anna, Beltran, Sergi, Muñoz, Jenifer, Ocaña, Teresa, Balaguer, Francesc, López-Cerón, Maria, Cuatrecasas, Miriam, Franch-Expósito, Sebastià, Piqué, Josep M., Castells, Antoni, Carracedo, Angel, Ruiz-Ponte, Clara, Abulí, Anna, Bessa, Xavier, Andreu, Montserrat, Bujanda, Luis, Caldés, Trinidad, and Castellví-Bel, Sergi
Published: 2015
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