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389 results on '"Huyghe, Jeroen R."'

1. Genetic risk impacts the association of menopausal hormone therapy with colorectal cancer risk

Author

Tian, Yu, Lin, Yi, Qu, Conghui, Arndt, Volker, Baurley, James W., Berndt, Sonja I., Bien, Stephanie A., Bishop, D. Timothy, Brenner, Hermann, Buchanan, Daniel D., Budiarto, Arif, Campbell, Peter T., Carreras-Torres, Robert, Casey, Graham, Chan, Andrew T., Chen, Rui, Chen, Xuechen, Conti, David V., Díez-Obrero, Virginia, Dimou, Niki, Drew, David A., Figueiredo, Jane C., Gallinger, Steven, Giles, Graham G., Gruber, Stephen B., Gunter, Marc J., Harlid, Sophia, Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina M., Joshi, Amit D., Keku, Temitope O., Kawaguchi, Eric, Kim, Andre E., Kundaje, Anshul, Larsson, Susanna C., Marchand, Loic Le, Lewinger, Juan Pablo, Li, Li, Moreno, Victor, Morrison, John, Murphy, Neil, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A., Obón-Santacana, Mireia, Ogino, Shuji, Ose, Jennifer, Pardamean, Bens, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Potter, John D., Prentice, Ross L., Rennert, Gad, Ruiz-Narvaez, Edward A., Sakoda, Lori C., Schoen, Robert E., Shcherbina, Anna, Stern, Mariana C., Su, Yu-Ru, Thibodeau, Stephen N., Thomas, Duncan C., Tsilidis, Konstantinos K., van Duijnhoven, Franzel J. B., Van Guelpen, Bethany, Visvanathan, Kala, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Peters, Ulrike, Gauderman, W. James, Hsu, Li, and Chang-Claude, Jenny

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. Genome-Wide Interaction Analysis of Genetic Variants With Menopausal Hormone Therapy for Colorectal Cancer Risk.

Author

Tian, Yu, Kim, Andre E, Bien, Stephanie A, Lin, Yi, Qu, Conghui, Harrison, Tabitha A, Carreras-Torres, Robert, Díez-Obrero, Virginia, Dimou, Niki, Drew, David A, Hidaka, Akihisa, Huyghe, Jeroen R, Jordahl, Kristina M, Morrison, John, Murphy, Neil, Obón-Santacana, Mireia, Ulrich, Cornelia M, Ose, Jennifer, Peoples, Anita R, Ruiz-Narvaez, Edward A, Shcherbina, Anna, Stern, Mariana C, Su, Yu-Ru, van Duijnhoven, Franzel JB, Arndt, Volker, Baurley, James W, Berndt, Sonja I, Bishop, D Timothy, Brenner, Hermann, Buchanan, Daniel D, Chan, Andrew T, Figueiredo, Jane C, Gallinger, Steven, Gruber, Stephen B, Harlid, Sophia, Hoffmeister, Michael, Jenkins, Mark A, Joshi, Amit D, Keku, Temitope O, Larsson, Susanna C, Le Marchand, Loic, Li, Li, Giles, Graham G, Milne, Roger L, Nan, Hongmei, Nassir, Rami, Ogino, Shuji, Budiarto, Arif, Platz, Elizabeth A, Potter, John D, Prentice, Ross L, Rennert, Gad, Sakoda, Lori C, Schoen, Robert E, Slattery, Martha L, Thibodeau, Stephen N, Van Guelpen, Bethany, Visvanathan, Kala, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Campbell, Peter T, Casey, Graham, Conti, David V, Gunter, Marc J, Kundaje, Anshul, Lewinger, Juan Pablo, Moreno, Victor, Newcomb, Polly A, Pardamean, Bens, Thomas, Duncan C, Tsilidis, Konstantinos K, Peters, Ulrike, Gauderman, W James, Hsu, Li, and Chang-Claude, Jenny

Subjects
Humans, Colorectal Neoplasms, Estrogens, Progestins, Risk Factors, Case-Control Studies, Menopause, Polymorphism, Single Nucleotide, Female, Aging, Digestive Diseases, Estrogen, Colo-Rectal Cancer, Genetics, Prevention, Human Genome, Clinical Research, Cancer, 2.1 Biological and endogenous factors, Aetiology, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundThe use of menopausal hormone therapy (MHT) may interact with genetic variants to influence colorectal cancer (CRC) risk.MethodsWe conducted a genome-wide, gene-environment interaction between single nucleotide polymorphisms and the use of any MHT, estrogen only, and combined estrogen-progestogen therapy with CRC risk, among 28 486 postmenopausal women (11 519 CRC patients and 16 967 participants without CRC) from 38 studies, using logistic regression, 2-step method, and 2- or 3-degree-of-freedom joint test. A set-based score test was applied for rare genetic variants.ResultsThe use of any MHT, estrogen only and estrogen-progestogen were associated with a reduced CRC risk (odds ratio [OR] = 0.71, 95% confidence interval [CI] = 0.64 to 0.78; OR = 0.65, 95% CI = 0.53 to 0.79; and OR = 0.73, 95% CI = 0.59 to 0.90, respectively). The 2-step method identified a statistically significant interaction between a GRIN2B variant rs117868593 and MHT use, whereby MHT-associated CRC risk was statistically significantly reduced in women with the GG genotype (OR = 0.68, 95% CI = 0.64 to 0.72) but not within strata of GC or CC genotypes. A statistically significant interaction between a DCBLD1 intronic variant at 6q22.1 (rs10782186) and MHT use was identified by the 2-degree-of-freedom joint test. The MHT-associated CRC risk was reduced with increasing number of rs10782186-C alleles, showing odds ratios of 0.78 (95% CI = 0.70 to 0.87) for TT, 0.68 (95% CI = 0.63 to 0.73) for TC, and 0.66 (95% CI = 0.60 to 0.74) for CC genotypes. In addition, 5 genes in rare variant analysis showed suggestive interactions with MHT (2-sided P

Published
2022

4. Folate intake and colorectal cancer risk according to genetic subtypes defined by targeted tumor sequencing

Author

Aglago, Elom K, Qu, Conghui, Harlid, Sophia, Phipps, Amanda I, Steinfelder, Robert S, Ogino, Shuji, Thomas, Claire E, Hsu, Li, Toland, Amanda E, Brenner, Hermann, Berndt, Sonja I, Buchanan, Daniel D, Campbell, Peter T, Cao, Yin, Chan, Andrew T, Drew, David A, Figueiredo, Jane C, French, Amy J, Gallinger, Steven, Georgeson, Peter, Giannakis, Marios, Goode, Ellen L, Gruber, Stephen B, Gunter, Marc J, Harrison, Tabitha A, Hoffmeister, Michael, Huang, Wen-Yi, Hullar, Meredith AJ, Huyghe, Jeroen R, Jenkins, Mark A, Lynch, Brigid M, Moreno, Victor, Murphy, Neil, Newton, Christina C, Nowak, Jonathan A, Obón-Santacana, Mireia, Sun, Wei, Ugai, Tomotaka, Um, Caroline Y, Zaidi, Syed H, Tsilidis, Konstantinos K, van Guelpen, Bethany, and Peters, Ulrike

Published
2024
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5. Probing the diabetes and colorectal cancer relationship using gene – environment interaction analyses

Author

Dimou, Niki, Kim, Andre E., Flanagan, Orlagh, Murphy, Neil, Diez-Obrero, Virginia, Shcherbina, Anna, Aglago, Elom K., Bouras, Emmanouil, Campbell, Peter T., Casey, Graham, Gallinger, Steven, Gruber, Stephen B., Jenkins, Mark A., Lin, Yi, Moreno, Victor, Ruiz-Narvaez, Edward, Stern, Mariana C., Tian, Yu, Tsilidis, Kostas K., Arndt, Volker, Barry, Elizabeth L., Baurley, James W., Berndt, Sonja I., Bézieau, Stéphane, Bien, Stephanie A., Bishop, D. Timothy, Brenner, Hermann, Budiarto, Arif, Carreras-Torres, Robert, Cenggoro, Tjeng Wawan, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chen, Xuechen, Conti, David V., Dampier, Christopher H., Devall, Matthew, Drew, David A., Figueiredo, Jane C., Giles, Graham G., Gsur, Andrea, Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jordahl, Kristina, Kawaguchi, Eric, Keku, Temitope O., Larsson, Susanna C., Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Mahesworo, Bharuno, Morrison, John, Newcomb, Polly A., Newton, Christina C., Obon-Santacana, Mireia, Ose, Jennifer, Pai, Rish K., Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Peoples, Anita R., Pharoah, Paul D. P., Platz, Elizabeth A., Potter, John D., Rennert, Gad, Scacheri, Peter C., Schoen, Robert E., Su, Yu-Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Ulrich, Cornelia M., Um, Caroline Y., van Duijnhoven, Franzel J. B., Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, White, Emily, Wolk, Alicja, Woods, Michael O., Qu, Conghui, Kundaje, Anshul, Hsu, Li, Gauderman, W. James, Gunter, Marc J., and Peters, Ulrike

Published
2023
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6. Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer

Author

Papadimitriou, Nikos, Kim, Andre, Kawaguchi, Eric S., Morrison, John, Diez-Obrero, Virginia, Albanes, Demetrius, Berndt, Sonja I., Bézieau, Stéphane, Bien, Stephanie A., Bishop, D Timothy, Bouras, Emmanouil, Brenner, Hermann, Buchanan, Daniel D., Campbell, Peter T., Carreras-Torres, Robert, Chan, Andrew T., Chang-Claude, Jenny, Conti, David V., Devall, Matthew A., Dimou, Niki, Drew, David A., Gruber, Stephen B., Harrison, Tabitha A., Hoffmeister, Michael, Huyghe, Jeroen R., Joshi, Amit D., Keku, Temitope O., Kundaje, Anshul, Küry, Sébastien, Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Lynch, Brigid M., Moreno, Victor, Newton, Christina C., Obón-Santacana, Mireia, Ose, Jennifer, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Qu, Conghui, Rennert, Gad, Ruiz-Narvaez, Edward, Shcherbina, Anna, Stern, Mariana C., Su, Yu-Ru, Thomas, Duncan C., Thomas, Claire E., Tian, Yu, Tsilidis, Konstantinos K., Ulrich, Cornelia M., Um, Caroline Y., Visvanathan, Kala, Wang, Jun, White, Emily, Woods, Michael O., Schmit, Stephanie L., Macrae, Finlay, Potter, John D., Hopper, John L., Peters, Ulrike, Murphy, Neil, Hsu, Li, Gunter, Marc J., and Gauderman, W. James

Published
2024
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7. 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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8. Body size and risk of colorectal cancer molecular defined subtypes and pathways: Mendelian randomization analyses

Author

Papadimitriou, Nikos, Qu, Conghui, Harrison, Tabitha A., Bever, Alaina M., Martin, Richard M., Tsilidis, Konstantinos K., Newcomb, Polly A., Thibodeau, Stephen N., Newton, Christina C., Um, Caroline Y., Obón-Santacana, Mireia, Moreno, Victor, Brenner, Hermann, Mandic, Marko, Chang-Claude, Jenny, Hoffmeister, Michael, Pellatt, Andrew J., Schoen, Robert E., Harlid, Sophia, Ogino, Shuji, Ugai, Tomotaka, Buchanan, Daniel D., Lynch, Brigid M., Gruber, Stephen B., Cao, Yin, Hsu, Li, Huyghe, Jeroen R., Lin, Yi, Steinfelder, Robert S., Sun, Wei, Van Guelpen, Bethany, Zaidi, Syed H., Toland, Amanda E., Berndt, Sonja I., Huang, Wen-Yi, Aglago, Elom K., Drew, David A., French, Amy J., Georgeson, Peter, Giannakis, Marios, Hullar, Meredith, Nowak, Johnathan A., Thomas, Claire E., Le Marchand, Loic, Cheng, Iona, Gallinger, Steven, Jenkins, Mark A., Gunter, Marc J., Campbell, Peter T., Peters, Ulrike, Song, Mingyang, Phipps, Amanda I., and Murphy, Neil

Published
2024
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9. Genome-wide interaction analysis of folate for colorectal cancer risk

Author

Bouras, Emmanouil, Kim, Andre E., Lin, Yi, Morrison, John, Du, Mengmeng, Albanes, Demetrius, Barry, Elizabeth L., Baurley, James W., Berndt, Sonja I., Bien, Stephanie A., Bishop, Timothy D., Brenner, Hermann, Budiarto, Arif, Burnett-Hartman, Andrea, Campbell, Peter T., Carreras-Torres, Robert, Casey, Graham, Cenggoro, Tjeng Wawan, Chan, Andrew T., Chang-Claude, Jenny, Conti, David V., Cotterchio, Michelle, Devall, Matthew, Diez-Obrero, Virginia, Dimou, Niki, Drew, David A., Figueiredo, Jane C., Giles, Graham G., Gruber, Stephen B., Gunter, Marc J., Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Joshi, Amit D., Kawaguchi, Eric S., Keku, Temitope O., Kundaje, Anshul, Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Lynch, Brigid M., Mahesworo, Bharuno, Männistö, Satu, Moreno, Victor, Murphy, Neil, Newcomb, Polly A., Obón-Santacana, Mireia, Ose, Jennifer, Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Potter, John D., Qi, Lihong, Qu, Conghui, Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori C., Schmit, Stephanie L., Shcherbina, Anna, Stern, Mariana C., Su, Yu-Ru, Tangen, Catherine M., Thomas, Duncan C., Tian, Yu, Um, Caroline Y., van Duijnhoven, Franzel JB., Van Guelpen, Bethany, Visvanathan, Kala, Wang, Jun, White, Emily, Wolk, Alicja, Woods, Michael O., Ulrich, Cornelia M., Hsu, Li, Gauderman, W James, Peters, Ulrike, and Tsilidis, Konstantinos K.

Published
2023
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10. 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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11. Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Author

Zaidi, Syed H, Harrison, Tabitha A, Phipps, Amanda I, Steinfelder, Robert, Trinh, Quang M, Qu, Conghui, Banbury, Barbara L, Georgeson, Peter, Grasso, Catherine S, Giannakis, Marios, Adams, Jeremy B, Alwers, Elizabeth, Amitay, Efrat L, Barfield, Richard T, Berndt, Sonja I, Borozan, Ivan, Brenner, Hermann, Brezina, Stefanie, Buchanan, Daniel D, Cao, Yin, Chan, Andrew T, Chang-Claude, Jenny, Connolly, Charles M, Drew, David A, Farris, Alton Brad, Figueiredo, Jane C, French, Amy J, Fuchs, Charles S, Garraway, Levi A, Gruber, Steve, Guinter, Mark A, Hamilton, Stanley R, Harlid, Sophia, Heisler, Lawrence E, Hidaka, Akihisa, Hopper, John L, Huang, Wen-Yi, Huyghe, Jeroen R, Jenkins, Mark A, Krzyzanowski, Paul M, Lemire, Mathieu, Lin, Yi, Luo, Xuemei, Mardis, Elaine R, McPherson, John D, Miller, Jessica K, Moreno, Victor, Mu, Xinmeng Jasmine, Nishihara, Reiko, Papadopoulos, Nickolas, Pasternack, Danielle, Quist, Michael J, Rafikova, Adilya, Reid, Emma EG, Shinbrot, Eve, Shirts, Brian H, Stein, Lincoln D, Teney, Cherie D, Timms, Lee, Um, Caroline Y, Van Guelpen, Bethany, Van Tassel, Megan, Wang, Xiaolong, Wheeler, David A, Yung, Christina K, Hsu, Li, Ogino, Shuji, Gsur, Andrea, Newcomb, Polly A, Gallinger, Steven, Hoffmeister, Michael, Campbell, Peter T, Thibodeau, Stephen N, Sun, Wei, Hudson, Thomas J, and Peters, Ulrike

Abstract

Colorectal cancer (CRC) is a biologically heterogeneous disease. To characterize its mutational profile, we conduct targeted sequencing of 205 genes for 2,105 CRC cases with survival data. Our data shows several findings in addition to enhancing the existing knowledge of CRC. We identify PRKCI, SPZ1, MUTYH, MAP2K4, FETUB, and TGFBR2 as additional genes significantly mutated in CRC. We find that among hypermutated tumors, an increased mutation burden is associated with improved CRC-specific survival (HR = 0.42, 95% CI: 0.21-0.82). Mutations in TP53 are associated with poorer CRC-specific survival, which is most pronounced in cases carrying TP53 mutations with predicted 0% transcriptional activity (HR = 1.53, 95% CI: 1.21-1.94). Furthermore, we observe differences in mutational frequency of several genes and pathways by tumor location, stage, and sex. Overall, this large study provides deep insights into somatic mutations in CRC, and their potential relationships with survival and tumor features.

Published
2020

12. Two genome-wide interaction loci modify the association of nonsteroidal anti-inflammatory drugs with colorectal cancer

Author

Drew, David A., primary, Kim, Andre E., additional, Lin, Yi, additional, Qu, Conghui, additional, Morrison, John, additional, Lewinger, Juan Pablo, additional, Kawaguchi, Eric, additional, Wang, Jun, additional, Fu, Yubo, additional, Zemlianskaia, Natalia, additional, Díez-Obrero, Virginia, additional, Bien, Stephanie A., additional, Dimou, Niki, additional, Albanes, Demetrius, additional, Baurley, James W., additional, Wu, Anna H., additional, Buchanan, Daniel D., additional, Potter, John D., additional, Prentice, Ross L., additional, Harlid, Sophia, additional, Arndt, Volker, additional, Barry, Elizabeth L., additional, Berndt, Sonja I., additional, Bouras, Emmanouil, additional, Brenner, Hermann, additional, Budiarto, Arif, additional, Burnett-Hartman, Andrea, additional, Campbell, Peter T., additional, Carreras-Torres, Robert, additional, Casey, Graham, additional, Chang-Claude, Jenny, additional, Conti, David V., additional, Devall, Matthew A.M., additional, Figueiredo, Jane C., additional, Gruber, Stephen B., additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Harrison, Tabitha A., additional, Hidaka, Akihisa, additional, Hoffmeister, Michael, additional, Huyghe, Jeroen R., additional, Jenkins, Mark A., additional, Jordahl, Kristina M., additional, Kundaje, Anshul, additional, Le Marchand, Loic, additional, Li, Li, additional, Lynch, Brigid M., additional, Murphy, Neil, additional, Nassir, Rami, additional, Newcomb, Polly A., additional, Newton, Christina C., additional, Obón-Santacana, Mireia, additional, Ogino, Shuji, additional, Ose, Jennifer, additional, Pai, Rish K., additional, Palmer, Julie R., additional, Papadimitriou, Nikos, additional, Pardamean, Bens, additional, Pellatt, Andrew J., additional, Peoples, Anita R., additional, Platz, Elizabeth A., additional, Rennert, Gad, additional, Ruiz-Narvaez, Edward, additional, Sakoda, Lori C., additional, Scacheri, Peter C., additional, Schmit, Stephanie L., additional, Schoen, Robert E., additional, Stern, Mariana C., additional, Su, Yu-Ru, additional, Thomas, Duncan C., additional, Tian, Yu, additional, Tsilidis, Konstantinos K., additional, Ulrich, Cornelia M., additional, Um, Caroline Y., additional, van Duijnhoven, Fränzel J.B., additional, Van Guelpen, Bethany, additional, White, Emily, additional, Hsu, Li, additional, Moreno, Victor, additional, Peters, Ulrike, additional, Chan, Andrew T., additional, and Gauderman, W. James, additional

Published
2024
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13. Supplemental Table 1 from Epidemiologic Factors in Relation to Colorectal Cancer Risk and Survival by Genotoxic Colibactin Mutational Signature

Author

Thomas, Claire E., primary, Georgeson, Peter, primary, Qu, Conghui, primary, Steinfelder, Robert S., primary, Buchanan, Daniel D., primary, Song, Mingyang, primary, Harrison, Tabitha A., primary, Um, Caroline Y., primary, Hullar, Meredith A., primary, Jenkins, Mark A., primary, Van Guelpen, Bethany, primary, Lynch, Brigid M., primary, Melaku, Yohannes Adama, primary, Huyghe, Jeroen R., primary, Aglago, Elom K., primary, Berndt, Sonja I., primary, Boardman, Lisa A., primary, Campbell, Peter T., primary, Cao, Yin, primary, Chan, Andrew T., primary, Drew, David A., primary, Figueiredo, Jane C., primary, French, Amy J., primary, Giannakis, Marios, primary, Goode, Ellen L., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hoffmeister, Michael, primary, Hsu, Li, primary, Huang, Wen-Yi, primary, Moreno, Victor, primary, Murphy, Neil, primary, Newcomb, Polly A., primary, Newton, Christina C., primary, Nowak, Jonathan A., primary, Obón-Santacana, Mireia, primary, Ogino, Shuji, primary, Sun, Wei, primary, Toland, Amanda E., primary, Trinh, Quang M., primary, Ugai, Tomotaka, primary, Zaidi, Syed H., primary, Peters, Ulrike, primary, and Phipps, Amanda I., primary

Published
2024
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14. Supplemental Table 2 from Epidemiologic Factors in Relation to Colorectal Cancer Risk and Survival by Genotoxic Colibactin Mutational Signature

Author

Thomas, Claire E., primary, Georgeson, Peter, primary, Qu, Conghui, primary, Steinfelder, Robert S., primary, Buchanan, Daniel D., primary, Song, Mingyang, primary, Harrison, Tabitha A., primary, Um, Caroline Y., primary, Hullar, Meredith A., primary, Jenkins, Mark A., primary, Van Guelpen, Bethany, primary, Lynch, Brigid M., primary, Melaku, Yohannes Adama, primary, Huyghe, Jeroen R., primary, Aglago, Elom K., primary, Berndt, Sonja I., primary, Boardman, Lisa A., primary, Campbell, Peter T., primary, Cao, Yin, primary, Chan, Andrew T., primary, Drew, David A., primary, Figueiredo, Jane C., primary, French, Amy J., primary, Giannakis, Marios, primary, Goode, Ellen L., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hoffmeister, Michael, primary, Hsu, Li, primary, Huang, Wen-Yi, primary, Moreno, Victor, primary, Murphy, Neil, primary, Newcomb, Polly A., primary, Newton, Christina C., primary, Nowak, Jonathan A., primary, Obón-Santacana, Mireia, primary, Ogino, Shuji, primary, Sun, Wei, primary, Toland, Amanda E., primary, Trinh, Quang M., primary, Ugai, Tomotaka, primary, Zaidi, Syed H., primary, Peters, Ulrike, primary, and Phipps, Amanda I., primary

Published
2024
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15. Data from Epidemiologic Factors in Relation to Colorectal Cancer Risk and Survival by Genotoxic Colibactin Mutational Signature

Author

Thomas, Claire E., primary, Georgeson, Peter, primary, Qu, Conghui, primary, Steinfelder, Robert S., primary, Buchanan, Daniel D., primary, Song, Mingyang, primary, Harrison, Tabitha A., primary, Um, Caroline Y., primary, Hullar, Meredith A., primary, Jenkins, Mark A., primary, Van Guelpen, Bethany, primary, Lynch, Brigid M., primary, Melaku, Yohannes Adama, primary, Huyghe, Jeroen R., primary, Aglago, Elom K., primary, Berndt, Sonja I., primary, Boardman, Lisa A., primary, Campbell, Peter T., primary, Cao, Yin, primary, Chan, Andrew T., primary, Drew, David A., primary, Figueiredo, Jane C., primary, French, Amy J., primary, Giannakis, Marios, primary, Goode, Ellen L., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hoffmeister, Michael, primary, Hsu, Li, primary, Huang, Wen-Yi, primary, Moreno, Victor, primary, Murphy, Neil, primary, Newcomb, Polly A., primary, Newton, Christina C., primary, Nowak, Jonathan A., primary, Obón-Santacana, Mireia, primary, Ogino, Shuji, primary, Sun, Wei, primary, Toland, Amanda E., primary, Trinh, Quang M., primary, Ugai, Tomotaka, primary, Zaidi, Syed H., primary, Peters, Ulrike, primary, and Phipps, Amanda I., primary

Published
2024
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16. Publisher Correction: Shared heritability and functional enrichment across six solid cancers.

Author

Jiang, Xia, Finucane, Hilary K, Schumacher, Fredrick R, Schmit, Stephanie L, Tyrer, Jonathan P, Han, Younghun, Michailidou, Kyriaki, Lesseur, Corina, Kuchenbaecker, Karoline B, Dennis, Joe, Conti, David V, Casey, Graham, Gaudet, Mia M, Huyghe, Jeroen R, Albanes, Demetrius, Aldrich, Melinda C, Andrew, Angeline S, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Antonenkova, Natalia N, Arnold, Susanne M, Aronson, Kristan J, Arun, Banu K, Bandera, Elisa V, Barkardottir, Rosa B, Barnes, Daniel R, Batra, Jyotsna, Beckmann, Matthias W, Benitez, Javier, Benlloch, Sara, Berchuck, Andrew, Berndt, Sonja I, Bickeböller, Heike, Bien, Stephanie A, Blomqvist, Carl, Boccia, Stefania, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brenton, James D, Brook, Mark N, Brunet, Joan, Brunnström, Hans, Buchanan, Daniel D, Burwinkel, Barbara, Butzow, Ralf, Cadoni, Gabriella, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Campbell, Peter T, Cancel-Tassin, Géraldine, Cannon-Albright, Lisa, Campa, Daniele, Caporaso, Neil, Carvalho, André L, Chan, Andrew T, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Chu, Christiani, David C, Claes, Kathleen BM, Claessens, Frank, Clements, Judith, Collée, J Margriet, Correa, Marcia Cruz, Couch, Fergus J, Cox, Angela, Cunningham, Julie M, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, deFazio, Anna, Devilee, Peter, Diez, Orland, Gago-Dominguez, Manuela, Donovan, Jenny L, Dörk, Thilo, Duell, Eric J, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Edlund, Christopher K, Edwards, Digna R Velez, Ellberg, Carolina, Evans, D Gareth, Fasching, Peter A, Ferris, Robert L, Liloglou, Triantafillos, Figueiredo, Jane C, Fletcher, Olivia, Fortner, Renée T, Fostira, Florentia, Franceschi, Silvia, Friedman, Eitan, Gallinger, Steven J, and Ganz, Patricia A

Subjects
MD Multidisciplinary
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2019

17. Novel Common Genetic Susceptibility Loci for Colorectal Cancer

Author

Schmit, Stephanie L, Edlund, Christopher K, Schumacher, Fredrick R, Gong, Jian, Harrison, Tabitha A, Huyghe, Jeroen R, Qu, Chenxu, Melas, Marilena, Van Den Berg, David J, Wang, Hansong, Tring, Stephanie, Plummer, Sarah J, Albanes, Demetrius, Alonso, M Henar, Amos, Christopher I, Anton, Kristen, Aragaki, Aaron K, Arndt, Volker, Barry, Elizabeth L, Berndt, Sonja I, Bezieau, Stéphane, Bien, Stephanie, Bloomer, Amanda, Boehm, Juergen, Boutron-Ruault, Marie-Christine, Brenner, Hermann, Brezina, Stefanie, Buchanan, Daniel D, Butterbach, Katja, Caan, Bette J, Campbell, Peter T, Carlson, Christopher S, Castelao, Jose E, Chan, Andrew T, Chang-Claude, Jenny, Chanock, Stephen J, Cheng, Iona, Cheng, Ya-Wen, Chin, Lee Soo, Church, James M, Church, Timothy, Coetzee, Gerhard A, Cotterchio, Michelle, Correa, Marcia Cruz, Curtis, Keith R, Duggan, David, Easton, Douglas F, English, Dallas, Feskens, Edith JM, Fischer, Rocky, FitzGerald, Liesel M, Fortini, Barbara K, Fritsche, Lars G, Fuchs, Charles S, Gago-Dominguez, Manuela, Gala, Manish, Gallinger, Steven J, Gauderman, W James, Giles, Graham G, Giovannucci, Edward L, Gogarten, Stephanie M, Gonzalez-Villalpando, Clicerio, Gonzalez-Villalpando, Elena M, Grady, William M, Greenson, Joel K, Gsur, Andrea, Gunter, Marc, Haiman, Christopher A, Hampe, Jochen, Harlid, Sophia, Harju, John F, Hayes, Richard B, Hofer, Philipp, Hoffmeister, Michael, Hopper, John L, Huang, Shu-Chen, Huerta, Jose Maria, Hudson, Thomas J, Hunter, David J, Idos, Gregory E, Iwasaki, Motoki, Jackson, Rebecca D, Jacobs, Eric J, Jee, Sun Ha, Jenkins, Mark A, Jia, Wei-Hua, Jiao, Shuo, Joshi, Amit D, Kolonel, Laurence N, Kono, Suminori, Kooperberg, Charles, Krogh, Vittorio, Kuehn, Tilman, Küry, Sébastien, LaCroix, Andrea, Laurie, Cecelia A, Lejbkowicz, Flavio, Lemire, Mathieu, Lenz, Heinz-Josef, and Levine, David

Subjects
Prevention, Cancer, Digestive Diseases, Human Genome, Genetics, Clinical Research, Colo-Rectal Cancer, Aetiology, 2.1 Biological and endogenous factors, Case-Control Studies, Colorectal Neoplasms, Ethnicity, Follow-Up Studies, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Polymorphism, Single Nucleotide, Prognosis, United States, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundPrevious genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating the discovery of additional susceptibility loci may capture unexplained familial risk.MethodsWe conducted a GWAS in European descent CRC cases and control subjects using a discovery-replication design, followed by examination of novel findings in a multiethnic sample (cumulative n = 163 315). In the discovery stage (36 948 case subjects/30 864 control subjects), we identified genetic variants with a minor allele frequency of 1% or greater associated with risk of CRC using logistic regression followed by a fixed-effects inverse variance weighted meta-analysis. All novel independent variants reaching genome-wide statistical significance (two-sided P < 5 × 10-8) were tested for replication in separate European ancestry samples (12 952 case subjects/48 383 control subjects). Next, we examined the generalizability of discovered variants in East Asians, African Americans, and Hispanics (12 085 case subjects/22 083 control subjects). Finally, we examined the contributions of novel risk variants to familial relative risk and examined the prediction capabilities of a polygenic risk score. All statistical tests were two-sided.ResultsThe discovery GWAS identified 11 variants associated with CRC at P < 5 × 10-8, of which nine (at 4q22.2/5p15.33/5p13.1/6p21.31/6p12.1/10q11.23/12q24.21/16q24.1/20q13.13) independently replicated at a P value of less than .05. Multiethnic follow-up supported the generalizability of discovery findings. These results demonstrated a 14.7% increase in familial relative risk explained by common risk alleles from 10.3% (95% confidence interval [CI] = 7.9% to 13.7%; known variants) to 11.9% (95% CI = 9.2% to 15.5%; known and novel variants). A polygenic risk score identified 4.3% of the population at an odds ratio for developing CRC of at least 2.0.ConclusionsThis study provides insight into the architecture of common genetic variation contributing to CRC etiology and improves risk prediction for individualized screening.

Published
2019

18. Shared heritability and functional enrichment across six solid cancers.

Author

Jiang, Xia, Finucane, Hilary K, Schumacher, Fredrick R, Schmit, Stephanie L, Tyrer, Jonathan P, Han, Younghun, Michailidou, Kyriaki, Lesseur, Corina, Kuchenbaecker, Karoline B, Dennis, Joe, Conti, David V, Casey, Graham, Gaudet, Mia M, Huyghe, Jeroen R, Albanes, Demetrius, Aldrich, Melinda C, Andrew, Angeline S, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Antonenkova, Natalia N, Arnold, Susanne M, Aronson, Kristan J, Arun, Banu K, Bandera, Elisa V, Barkardottir, Rosa B, Barnes, Daniel R, Batra, Jyotsna, Beckmann, Matthias W, Benitez, Javier, Benlloch, Sara, Berchuck, Andrew, Berndt, Sonja I, Bickeböller, Heike, Bien, Stephanie A, Blomqvist, Carl, Boccia, Stefania, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brenton, James D, Brook, Mark N, Brunet, Joan, Brunnström, Hans, Buchanan, Daniel D, Burwinkel, Barbara, Butzow, Ralf, Cadoni, Gabriella, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Campbell, Peter T, Cancel-Tassin, Géraldine, Cannon-Albright, Lisa, Campa, Daniele, Caporaso, Neil, Carvalho, André L, Chan, Andrew T, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Chu, Christiani, David C, Claes, Kathleen BM, Claessens, Frank, Clements, Judith, Collée, J Margriet, Correa, Marcia Cruz, Couch, Fergus J, Cox, Angela, Cunningham, Julie M, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, deFazio, Anna, Devilee, Peter, Diez, Orland, Gago-Dominguez, Manuela, Donovan, Jenny L, Dörk, Thilo, Duell, Eric J, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Edlund, Christopher K, Edwards, Digna R Velez, Ellberg, Carolina, Evans, D Gareth, Fasching, Peter A, Ferris, Robert L, Liloglou, Triantafillos, Figueiredo, Jane C, Fletcher, Olivia, Fortner, Renée T, Fostira, Florentia, Franceschi, Silvia, Friedman, Eitan, Gallinger, Steven J, and Ganz, Patricia A

Subjects
Humans, Breast Neoplasms, Colorectal Neoplasms, Ovarian Neoplasms, Head and Neck Neoplasms, Lung Neoplasms, Prostatic Neoplasms, Genetic Predisposition to Disease, Neoplasm Proteins, Case-Control Studies, Smoking, Mental Disorders, Inheritance Patterns, Phenotype, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Female, Male, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Prevention, Cancer, Breast Cancer, Genetics, Rare Diseases, Lung Cancer, Human Genome, Colo-Rectal Cancer, Digestive Diseases, Lung, MD Multidisciplinary
Abstract

Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (rg = 0.57, p = 4.6 × 10-8), breast and ovarian cancer (rg = 0.24, p = 7 × 10-5), breast and lung cancer (rg = 0.18, p =1.5 × 10-6) and breast and colorectal cancer (rg = 0.15, p = 1.1 × 10-4). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.

Published
2019

19. Association between germline variants and somatic mutations in colorectal cancer

Author

Barfield, Richard, Qu, Conghui, Steinfelder, Robert S., Zeng, Chenjie, Harrison, Tabitha A., Brezina, Stefanie, Buchanan, Daniel D., Campbell, Peter T., Casey, Graham, Gallinger, Steven, Giannakis, Marios, Gruber, Stephen B., Gsur, Andrea, Hsu, Li, Huyghe, Jeroen R., Moreno, Victor, Newcomb, Polly A., Ogino, Shuji, Phipps, Amanda I., Slattery, Martha L., Thibodeau, Stephen N., Trinh, Quang M., Toland, Amanda E., Hudson, Thomas J., Sun, Wei, Zaidi, Syed H., and Peters, Ulrike

Published
2022
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21. Genetic mechanisms of immune evasion in colorectal cancer

Author

Grasso, Catherine S, Giannakis, Marios, Wells, Daniel K, Hamada, Tsuyoshi, Mu, Xinmeng Jasmine, Quist, Michael, Nowak, Jonathan A, Nishihara, Reiko, Qian, Zhi Rong, Inamura, Kentaro, Morikawa, Teppei, Nosho, Katsuhiko, Abril-Rodriguez, Gabriel, Connolly, Charles, Escuin-Ordinas, Helena, Geybels, Milan S, Grady, William M, Hsu, Li, Hu-Lieskovan, Siwen, Huyghe, Jeroen R, Kim, Yeon Joo, Krystofinski, Paige, Leiserson, Mark DM, Montoya, Dennis J, Nadel, Brian B, Pellegrini, Matteo, Pritchard, Colin C, Puig-Saus, Cristina, Quist, Elleanor H, Raphael, Ben J, Salipante, Stephen J, Shin, Daniel Sanghoon, Shinbrot, Eve, Shirts, Brian, Shukla, Sachet, Stanford, Janet L, Sun, Wei, Tsoi, Jennifer, Upfill-Brown, Alexander, Wheeler, David A, Wu, Catherine J, Yu, Ming, Zaidi, Syed H, Zaretsky, Jesse M, Gabriel, Stacey B, Lander, Eric S, Garraway, Levi A, Hudson, Thomas J, Fuchs, Charles S, Ribas, Antoni, Ogino, Shuji, and Peters, Ulrike

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Immunology, Genetic Testing, Digestive Diseases, Cancer, Colo-Rectal Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, Colorectal Neoplasms, DNA Copy Number Variations, DNA Methylation, Germ-Line Mutation, HLA Antigens, Humans, Loss of Heterozygosity, Microsatellite Instability, Tumor Escape, Wnt Signaling Pathway, beta 2-Microglobulin, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

To understand the genetic drivers of immune recognition and evasion in colorectal cancer, we analyzed 1,211 colorectal cancer primary tumor samples, including 179 classified as microsatellite instability-high (MSI-high). This set includes The Cancer Genome Atlas colorectal cancer cohort of 592 samples, completed and analyzed here. MSI-high, a hypermutated, immunogenic subtype of colorectal cancer, had a high rate of significantly mutated genes in important immune-modulating pathways and in the antigen presentation machinery, including biallelic losses of B2M and HLA genes due to copy-number alterations and copy-neutral loss of heterozygosity. WNT/β-catenin signaling genes were significantly mutated in all colorectal cancer subtypes, and activated WNT/β-catenin signaling was correlated with the absence of T-cell infiltration. This large-scale genomic analysis of colorectal cancer demonstrates that MSI-high cases frequently undergo an immunoediting process that provides them with genetic events allowing immune escape despite high mutational load and frequent lymphocytic infiltration and, furthermore, that colorectal cancer tumors have genetic and methylation events associated with activated WNT signaling and T-cell exclusion.Significance: This multi-omic analysis of 1,211 colorectal cancer primary tumors reveals that it should be possible to better monitor resistance in the 15% of cases that respond to immune blockade therapy and also to use WNT signaling inhibitors to reverse immune exclusion in the 85% of cases that currently do not. Cancer Discov; 8(6); 730-49. ©2018 AACR.This article is highlighted in the In This Issue feature, p. 663.

Published
2018

22. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Author

Flannick, Jason, Fuchsberger, Christian, Mahajan, Anubha, Teslovich, Tanya M, Agarwala, Vineeta, Gaulton, Kyle J, Caulkins, Lizz, Koesterer, Ryan, Ma, Clement, Moutsianas, Loukas, McCarthy, Davis J, Rivas, Manuel A, Perry, John RB, Sim, Xueling, Blackwell, Thomas W, Robertson, Neil R, Rayner, N William, Cingolani, Pablo, Locke, Adam E, Tajes, Juan Fernandez, Highland, Heather M, Dupuis, Josee, Chines, Peter S, Lindgren, Cecilia M, Hartl, Christopher, Jackson, Anne U, Chen, Han, Huyghe, Jeroen R, van de Bunt, Martijn, Pearson, Richard D, Kumar, Ashish, Müller-Nurasyid, Martina, Grarup, Niels, Stringham, Heather M, Gamazon, Eric R, Lee, Jaehoon, Chen, Yuhui, Scott, Robert A, Below, Jennifer E, Chen, Peng, Huang, Jinyan, Go, Min Jin, Stitzel, Michael L, Pasko, Dorota, Parker, Stephen CJ, Varga, Tibor V, Green, Todd, Beer, Nicola L, Day-Williams, Aaron G, Ferreira, Teresa, Fingerlin, Tasha, Horikoshi, Momoko, Hu, Cheng, Huh, Iksoo, Ikram, Mohammad Kamran, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Kwon, Min-Seok, Lee, Juyoung, Lee, Selyeong, Lin, Keng-Han, Maxwell, Taylor J, Nagai, Yoshihiko, Wang, Xu, Welch, Ryan P, Yoon, Joon, Zhang, Weihua, Barzilai, Nir, Voight, Benjamin F, Han, Bok-Ghee, Jenkinson, Christopher P, Kuulasmaa, Teemu, Kuusisto, Johanna, Manning, Alisa, Ng, Maggie CY, Palmer, Nicholette D, Balkau, Beverley, Stančáková, Alena, Abboud, Hanna E, Boeing, Heiner, Giedraitis, Vilmantas, Prabhakaran, Dorairaj, Gottesman, Omri, Scott, James, Carey, Jason, Kwan, Phoenix, Grant, George, Smith, Joshua D, Neale, Benjamin M, Purcell, Shaun, Butterworth, Adam S, Howson, Joanna MM, Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, and Lam, Vincent KL

Abstract

This corrects the article DOI: 10.1038/sdata.2017.179.

Published
2018

23. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Author

Flannick, Jason, Fuchsberger, Christian, Mahajan, Anubha, Teslovich, Tanya M, Agarwala, Vineeta, Gaulton, Kyle J, Caulkins, Lizz, Koesterer, Ryan, Ma, Clement, Moutsianas, Loukas, McCarthy, Davis J, Rivas, Manuel A, Perry, John RB, Sim, Xueling, Blackwell, Thomas W, Robertson, Neil R, Rayner, N William, Cingolani, Pablo, Locke, Adam E, Tajes, Juan Fernandez, Highland, Heather M, Dupuis, Josee, Chines, Peter S, Lindgren, Cecilia M, Hartl, Christopher, Jackson, Anne U, Chen, Han, Huyghe, Jeroen R, van de Bunt, Martijn, Pearson, Richard D, Kumar, Ashish, Müller-Nurasyid, Martina, Grarup, Niels, Stringham, Heather M, Gamazon, Eric R, Lee, Jaehoon, Chen, Yuhui, Scott, Robert A, Below, Jennifer E, Chen, Peng, Huang, Jinyan, Go, Min Jin, Stitzel, Michael L, Pasko, Dorota, Parker, Stephen CJ, Varga, Tibor V, Green, Todd, Beer, Nicola L, Day-Williams, Aaron G, Ferreira, Teresa, Fingerlin, Tasha, Horikoshi, Momoko, Hu, Cheng, Huh, Iksoo, Ikram, Mohammad Kamran, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Kwon, Min-Seok, Lee, Juyoung, Lee, Selyeong, Lin, Keng-Han, Maxwell, Taylor J, Nagai, Yoshihiko, Wang, Xu, Welch, Ryan P, Yoon, Joon, Zhang, Weihua, Barzilai, Nir, Voight, Benjamin F, Han, Bok-Ghee, Jenkinson, Christopher P, Kuulasmaa, Teemu, Kuusisto, Johanna, Manning, Alisa, Ng, Maggie CY, Palmer, Nicholette D, Balkau, Beverley, Stančáková, Alena, Abboud, Hanna E, Boeing, Heiner, Giedraitis, Vilmantas, Prabhakaran, Dorairaj, Gottesman, Omri, Scott, James, Carey, Jason, Kwan, Phoenix, Grant, George, Smith, Joshua D, Neale, Benjamin M, Purcell, Shaun, Butterworth, Adam S, Howson, Joanna MM, Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, and Lam, Vincent KL

Subjects
Humans, Diabetes Mellitus, Type 2, European Continental Ancestry Group, Genetic Variation, Diabetes, Human Genome, Genetics, 2.1 Biological and endogenous factors, Metabolic and endocrine
Abstract

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

Published
2017

24. Supplementary Methods from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, primary, Kim, Andre E., primary, Obón-Santacana, Mireia, primary, Moratalla-Navarro, Ferran, primary, Martín, Vicente, primary, Moreno, Victor, primary, Lin, Yi, primary, Bien, Stephanie A., primary, Qu, Conghui, primary, Su, Yu-Ru, primary, White, Emily, primary, Harrison, Tabitha A., primary, Huyghe, Jeroen R., primary, Tangen, Catherine M., primary, Newcomb, Polly A., primary, Phipps, Amanda I., primary, Thomas, Claire E., primary, Kawaguchi, Eric S., primary, Lewinger, Juan Pablo, primary, Morrison, John L., primary, Conti, David V., primary, Wang, Jun, primary, Thomas, Duncan C., primary, Platz, Elizabeth A., primary, Visvanathan, Kala, primary, Keku, Temitope O., primary, Newton, Christina C., primary, Um, Caroline Y., primary, Kundaje, Anshul, primary, Shcherbina, Anna, primary, Murphy, Neil, primary, Gunter, Marc J., primary, Dimou, Niki, primary, Papadimitriou, Nikos, primary, Bézieau, Stéphane, primary, van Duijnhoven, Franzel J.B., primary, Männistö, Satu, primary, Rennert, Gad, primary, Wolk, Alicja, primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, Chang-Claude, Jenny, primary, Tian, Yu, primary, Le Marchand, Loïc, primary, Cotterchio, Michelle, primary, Tsilidis, Konstantinos K., primary, Bishop, D. Timothy, primary, Melaku, Yohannes Adama, primary, Lynch, Brigid M., primary, Buchanan, Daniel D., primary, Ulrich, Cornelia M., primary, Ose, Jennifer, primary, Peoples, Anita R., primary, Pellatt, Andrew J., primary, Li, Li, primary, Devall, Matthew A.M., primary, Campbell, Peter T., primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Berndt, Sonja I., primary, Gruber, Stephen B., primary, Ruiz-Narvaez, Edward, primary, Song, Mingyang, primary, Joshi, Amit D., primary, Drew, David A., primary, Petrick, Jessica L., primary, Chan, Andrew T., primary, Giannakis, Marios, primary, Peters, Ulrike, primary, Hsu, Li, primary, and Gauderman, W. James, primary

Published
2024
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25. Supplementary Table 2 from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, primary, Kim, Andre E., primary, Obón-Santacana, Mireia, primary, Moratalla-Navarro, Ferran, primary, Martín, Vicente, primary, Moreno, Victor, primary, Lin, Yi, primary, Bien, Stephanie A., primary, Qu, Conghui, primary, Su, Yu-Ru, primary, White, Emily, primary, Harrison, Tabitha A., primary, Huyghe, Jeroen R., primary, Tangen, Catherine M., primary, Newcomb, Polly A., primary, Phipps, Amanda I., primary, Thomas, Claire E., primary, Kawaguchi, Eric S., primary, Lewinger, Juan Pablo, primary, Morrison, John L., primary, Conti, David V., primary, Wang, Jun, primary, Thomas, Duncan C., primary, Platz, Elizabeth A., primary, Visvanathan, Kala, primary, Keku, Temitope O., primary, Newton, Christina C., primary, Um, Caroline Y., primary, Kundaje, Anshul, primary, Shcherbina, Anna, primary, Murphy, Neil, primary, Gunter, Marc J., primary, Dimou, Niki, primary, Papadimitriou, Nikos, primary, Bézieau, Stéphane, primary, van Duijnhoven, Franzel J.B., primary, Männistö, Satu, primary, Rennert, Gad, primary, Wolk, Alicja, primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, Chang-Claude, Jenny, primary, Tian, Yu, primary, Le Marchand, Loïc, primary, Cotterchio, Michelle, primary, Tsilidis, Konstantinos K., primary, Bishop, D. Timothy, primary, Melaku, Yohannes Adama, primary, Lynch, Brigid M., primary, Buchanan, Daniel D., primary, Ulrich, Cornelia M., primary, Ose, Jennifer, primary, Peoples, Anita R., primary, Pellatt, Andrew J., primary, Li, Li, primary, Devall, Matthew A.M., primary, Campbell, Peter T., primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Berndt, Sonja I., primary, Gruber, Stephen B., primary, Ruiz-Narvaez, Edward, primary, Song, Mingyang, primary, Joshi, Amit D., primary, Drew, David A., primary, Petrick, Jessica L., primary, Chan, Andrew T., primary, Giannakis, Marios, primary, Peters, Ulrike, primary, Hsu, Li, primary, and Gauderman, W. James, primary

Published
2024
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26. Supplementary Figure 4 from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, primary, Kim, Andre E., primary, Obón-Santacana, Mireia, primary, Moratalla-Navarro, Ferran, primary, Martín, Vicente, primary, Moreno, Victor, primary, Lin, Yi, primary, Bien, Stephanie A., primary, Qu, Conghui, primary, Su, Yu-Ru, primary, White, Emily, primary, Harrison, Tabitha A., primary, Huyghe, Jeroen R., primary, Tangen, Catherine M., primary, Newcomb, Polly A., primary, Phipps, Amanda I., primary, Thomas, Claire E., primary, Kawaguchi, Eric S., primary, Lewinger, Juan Pablo, primary, Morrison, John L., primary, Conti, David V., primary, Wang, Jun, primary, Thomas, Duncan C., primary, Platz, Elizabeth A., primary, Visvanathan, Kala, primary, Keku, Temitope O., primary, Newton, Christina C., primary, Um, Caroline Y., primary, Kundaje, Anshul, primary, Shcherbina, Anna, primary, Murphy, Neil, primary, Gunter, Marc J., primary, Dimou, Niki, primary, Papadimitriou, Nikos, primary, Bézieau, Stéphane, primary, van Duijnhoven, Franzel J.B., primary, Männistö, Satu, primary, Rennert, Gad, primary, Wolk, Alicja, primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, Chang-Claude, Jenny, primary, Tian, Yu, primary, Le Marchand, Loïc, primary, Cotterchio, Michelle, primary, Tsilidis, Konstantinos K., primary, Bishop, D. Timothy, primary, Melaku, Yohannes Adama, primary, Lynch, Brigid M., primary, Buchanan, Daniel D., primary, Ulrich, Cornelia M., primary, Ose, Jennifer, primary, Peoples, Anita R., primary, Pellatt, Andrew J., primary, Li, Li, primary, Devall, Matthew A.M., primary, Campbell, Peter T., primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Berndt, Sonja I., primary, Gruber, Stephen B., primary, Ruiz-Narvaez, Edward, primary, Song, Mingyang, primary, Joshi, Amit D., primary, Drew, David A., primary, Petrick, Jessica L., primary, Chan, Andrew T., primary, Giannakis, Marios, primary, Peters, Ulrike, primary, Hsu, Li, primary, and Gauderman, W. James, primary

Published
2024
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27. Data from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, primary, Kim, Andre E., primary, Obón-Santacana, Mireia, primary, Moratalla-Navarro, Ferran, primary, Martín, Vicente, primary, Moreno, Victor, primary, Lin, Yi, primary, Bien, Stephanie A., primary, Qu, Conghui, primary, Su, Yu-Ru, primary, White, Emily, primary, Harrison, Tabitha A., primary, Huyghe, Jeroen R., primary, Tangen, Catherine M., primary, Newcomb, Polly A., primary, Phipps, Amanda I., primary, Thomas, Claire E., primary, Kawaguchi, Eric S., primary, Lewinger, Juan Pablo, primary, Morrison, John L., primary, Conti, David V., primary, Wang, Jun, primary, Thomas, Duncan C., primary, Platz, Elizabeth A., primary, Visvanathan, Kala, primary, Keku, Temitope O., primary, Newton, Christina C., primary, Um, Caroline Y., primary, Kundaje, Anshul, primary, Shcherbina, Anna, primary, Murphy, Neil, primary, Gunter, Marc J., primary, Dimou, Niki, primary, Papadimitriou, Nikos, primary, Bézieau, Stéphane, primary, van Duijnhoven, Franzel J.B., primary, Männistö, Satu, primary, Rennert, Gad, primary, Wolk, Alicja, primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, Chang-Claude, Jenny, primary, Tian, Yu, primary, Le Marchand, Loïc, primary, Cotterchio, Michelle, primary, Tsilidis, Konstantinos K., primary, Bishop, D. Timothy, primary, Melaku, Yohannes Adama, primary, Lynch, Brigid M., primary, Buchanan, Daniel D., primary, Ulrich, Cornelia M., primary, Ose, Jennifer, primary, Peoples, Anita R., primary, Pellatt, Andrew J., primary, Li, Li, primary, Devall, Matthew A.M., primary, Campbell, Peter T., primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Berndt, Sonja I., primary, Gruber, Stephen B., primary, Ruiz-Narvaez, Edward, primary, Song, Mingyang, primary, Joshi, Amit D., primary, Drew, David A., primary, Petrick, Jessica L., primary, Chan, Andrew T., primary, Giannakis, Marios, primary, Peters, Ulrike, primary, Hsu, Li, primary, and Gauderman, W. James, primary

Published
2024
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28. Supplementary Table 1 from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, primary, Kim, Andre E., primary, Obón-Santacana, Mireia, primary, Moratalla-Navarro, Ferran, primary, Martín, Vicente, primary, Moreno, Victor, primary, Lin, Yi, primary, Bien, Stephanie A., primary, Qu, Conghui, primary, Su, Yu-Ru, primary, White, Emily, primary, Harrison, Tabitha A., primary, Huyghe, Jeroen R., primary, Tangen, Catherine M., primary, Newcomb, Polly A., primary, Phipps, Amanda I., primary, Thomas, Claire E., primary, Kawaguchi, Eric S., primary, Lewinger, Juan Pablo, primary, Morrison, John L., primary, Conti, David V., primary, Wang, Jun, primary, Thomas, Duncan C., primary, Platz, Elizabeth A., primary, Visvanathan, Kala, primary, Keku, Temitope O., primary, Newton, Christina C., primary, Um, Caroline Y., primary, Kundaje, Anshul, primary, Shcherbina, Anna, primary, Murphy, Neil, primary, Gunter, Marc J., primary, Dimou, Niki, primary, Papadimitriou, Nikos, primary, Bézieau, Stéphane, primary, van Duijnhoven, Franzel J.B., primary, Männistö, Satu, primary, Rennert, Gad, primary, Wolk, Alicja, primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, Chang-Claude, Jenny, primary, Tian, Yu, primary, Le Marchand, Loïc, primary, Cotterchio, Michelle, primary, Tsilidis, Konstantinos K., primary, Bishop, D. Timothy, primary, Melaku, Yohannes Adama, primary, Lynch, Brigid M., primary, Buchanan, Daniel D., primary, Ulrich, Cornelia M., primary, Ose, Jennifer, primary, Peoples, Anita R., primary, Pellatt, Andrew J., primary, Li, Li, primary, Devall, Matthew A.M., primary, Campbell, Peter T., primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Berndt, Sonja I., primary, Gruber, Stephen B., primary, Ruiz-Narvaez, Edward, primary, Song, Mingyang, primary, Joshi, Amit D., primary, Drew, David A., primary, Petrick, Jessica L., primary, Chan, Andrew T., primary, Giannakis, Marios, primary, Peters, Ulrike, primary, Hsu, Li, primary, and Gauderman, W. James, primary

Published
2024
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29. Supplementary Figure 1 from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, primary, Kim, Andre E., primary, Obón-Santacana, Mireia, primary, Moratalla-Navarro, Ferran, primary, Martín, Vicente, primary, Moreno, Victor, primary, Lin, Yi, primary, Bien, Stephanie A., primary, Qu, Conghui, primary, Su, Yu-Ru, primary, White, Emily, primary, Harrison, Tabitha A., primary, Huyghe, Jeroen R., primary, Tangen, Catherine M., primary, Newcomb, Polly A., primary, Phipps, Amanda I., primary, Thomas, Claire E., primary, Kawaguchi, Eric S., primary, Lewinger, Juan Pablo, primary, Morrison, John L., primary, Conti, David V., primary, Wang, Jun, primary, Thomas, Duncan C., primary, Platz, Elizabeth A., primary, Visvanathan, Kala, primary, Keku, Temitope O., primary, Newton, Christina C., primary, Um, Caroline Y., primary, Kundaje, Anshul, primary, Shcherbina, Anna, primary, Murphy, Neil, primary, Gunter, Marc J., primary, Dimou, Niki, primary, Papadimitriou, Nikos, primary, Bézieau, Stéphane, primary, van Duijnhoven, Franzel J.B., primary, Männistö, Satu, primary, Rennert, Gad, primary, Wolk, Alicja, primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, Chang-Claude, Jenny, primary, Tian, Yu, primary, Le Marchand, Loïc, primary, Cotterchio, Michelle, primary, Tsilidis, Konstantinos K., primary, Bishop, D. Timothy, primary, Melaku, Yohannes Adama, primary, Lynch, Brigid M., primary, Buchanan, Daniel D., primary, Ulrich, Cornelia M., primary, Ose, Jennifer, primary, Peoples, Anita R., primary, Pellatt, Andrew J., primary, Li, Li, primary, Devall, Matthew A.M., primary, Campbell, Peter T., primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Berndt, Sonja I., primary, Gruber, Stephen B., primary, Ruiz-Narvaez, Edward, primary, Song, Mingyang, primary, Joshi, Amit D., primary, Drew, David A., primary, Petrick, Jessica L., primary, Chan, Andrew T., primary, Giannakis, Marios, primary, Peters, Ulrike, primary, Hsu, Li, primary, and Gauderman, W. James, primary

Published
2024
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30. Supplementary Figure 2 from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, primary, Kim, Andre E., primary, Obón-Santacana, Mireia, primary, Moratalla-Navarro, Ferran, primary, Martín, Vicente, primary, Moreno, Victor, primary, Lin, Yi, primary, Bien, Stephanie A., primary, Qu, Conghui, primary, Su, Yu-Ru, primary, White, Emily, primary, Harrison, Tabitha A., primary, Huyghe, Jeroen R., primary, Tangen, Catherine M., primary, Newcomb, Polly A., primary, Phipps, Amanda I., primary, Thomas, Claire E., primary, Kawaguchi, Eric S., primary, Lewinger, Juan Pablo, primary, Morrison, John L., primary, Conti, David V., primary, Wang, Jun, primary, Thomas, Duncan C., primary, Platz, Elizabeth A., primary, Visvanathan, Kala, primary, Keku, Temitope O., primary, Newton, Christina C., primary, Um, Caroline Y., primary, Kundaje, Anshul, primary, Shcherbina, Anna, primary, Murphy, Neil, primary, Gunter, Marc J., primary, Dimou, Niki, primary, Papadimitriou, Nikos, primary, Bézieau, Stéphane, primary, van Duijnhoven, Franzel J.B., primary, Männistö, Satu, primary, Rennert, Gad, primary, Wolk, Alicja, primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, Chang-Claude, Jenny, primary, Tian, Yu, primary, Le Marchand, Loïc, primary, Cotterchio, Michelle, primary, Tsilidis, Konstantinos K., primary, Bishop, D. Timothy, primary, Melaku, Yohannes Adama, primary, Lynch, Brigid M., primary, Buchanan, Daniel D., primary, Ulrich, Cornelia M., primary, Ose, Jennifer, primary, Peoples, Anita R., primary, Pellatt, Andrew J., primary, Li, Li, primary, Devall, Matthew A.M., primary, Campbell, Peter T., primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Berndt, Sonja I., primary, Gruber, Stephen B., primary, Ruiz-Narvaez, Edward, primary, Song, Mingyang, primary, Joshi, Amit D., primary, Drew, David A., primary, Petrick, Jessica L., primary, Chan, Andrew T., primary, Giannakis, Marios, primary, Peters, Ulrike, primary, Hsu, Li, primary, and Gauderman, W. James, primary

Published
2024
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31. Supplementary Figure 3 from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, primary, Kim, Andre E., primary, Obón-Santacana, Mireia, primary, Moratalla-Navarro, Ferran, primary, Martín, Vicente, primary, Moreno, Victor, primary, Lin, Yi, primary, Bien, Stephanie A., primary, Qu, Conghui, primary, Su, Yu-Ru, primary, White, Emily, primary, Harrison, Tabitha A., primary, Huyghe, Jeroen R., primary, Tangen, Catherine M., primary, Newcomb, Polly A., primary, Phipps, Amanda I., primary, Thomas, Claire E., primary, Kawaguchi, Eric S., primary, Lewinger, Juan Pablo, primary, Morrison, John L., primary, Conti, David V., primary, Wang, Jun, primary, Thomas, Duncan C., primary, Platz, Elizabeth A., primary, Visvanathan, Kala, primary, Keku, Temitope O., primary, Newton, Christina C., primary, Um, Caroline Y., primary, Kundaje, Anshul, primary, Shcherbina, Anna, primary, Murphy, Neil, primary, Gunter, Marc J., primary, Dimou, Niki, primary, Papadimitriou, Nikos, primary, Bézieau, Stéphane, primary, van Duijnhoven, Franzel J.B., primary, Männistö, Satu, primary, Rennert, Gad, primary, Wolk, Alicja, primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, Chang-Claude, Jenny, primary, Tian, Yu, primary, Le Marchand, Loïc, primary, Cotterchio, Michelle, primary, Tsilidis, Konstantinos K., primary, Bishop, D. Timothy, primary, Melaku, Yohannes Adama, primary, Lynch, Brigid M., primary, Buchanan, Daniel D., primary, Ulrich, Cornelia M., primary, Ose, Jennifer, primary, Peoples, Anita R., primary, Pellatt, Andrew J., primary, Li, Li, primary, Devall, Matthew A.M., primary, Campbell, Peter T., primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Berndt, Sonja I., primary, Gruber, Stephen B., primary, Ruiz-Narvaez, Edward, primary, Song, Mingyang, primary, Joshi, Amit D., primary, Drew, David A., primary, Petrick, Jessica L., primary, Chan, Andrew T., primary, Giannakis, Marios, primary, Peters, Ulrike, primary, Hsu, Li, primary, and Gauderman, W. James, primary

Published
2024
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32. Supplementary Figure 5 from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, primary, Kim, Andre E., primary, Obón-Santacana, Mireia, primary, Moratalla-Navarro, Ferran, primary, Martín, Vicente, primary, Moreno, Victor, primary, Lin, Yi, primary, Bien, Stephanie A., primary, Qu, Conghui, primary, Su, Yu-Ru, primary, White, Emily, primary, Harrison, Tabitha A., primary, Huyghe, Jeroen R., primary, Tangen, Catherine M., primary, Newcomb, Polly A., primary, Phipps, Amanda I., primary, Thomas, Claire E., primary, Kawaguchi, Eric S., primary, Lewinger, Juan Pablo, primary, Morrison, John L., primary, Conti, David V., primary, Wang, Jun, primary, Thomas, Duncan C., primary, Platz, Elizabeth A., primary, Visvanathan, Kala, primary, Keku, Temitope O., primary, Newton, Christina C., primary, Um, Caroline Y., primary, Kundaje, Anshul, primary, Shcherbina, Anna, primary, Murphy, Neil, primary, Gunter, Marc J., primary, Dimou, Niki, primary, Papadimitriou, Nikos, primary, Bézieau, Stéphane, primary, van Duijnhoven, Franzel J.B., primary, Männistö, Satu, primary, Rennert, Gad, primary, Wolk, Alicja, primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, Chang-Claude, Jenny, primary, Tian, Yu, primary, Le Marchand, Loïc, primary, Cotterchio, Michelle, primary, Tsilidis, Konstantinos K., primary, Bishop, D. Timothy, primary, Melaku, Yohannes Adama, primary, Lynch, Brigid M., primary, Buchanan, Daniel D., primary, Ulrich, Cornelia M., primary, Ose, Jennifer, primary, Peoples, Anita R., primary, Pellatt, Andrew J., primary, Li, Li, primary, Devall, Matthew A.M., primary, Campbell, Peter T., primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Berndt, Sonja I., primary, Gruber, Stephen B., primary, Ruiz-Narvaez, Edward, primary, Song, Mingyang, primary, Joshi, Amit D., primary, Drew, David A., primary, Petrick, Jessica L., primary, Chan, Andrew T., primary, Giannakis, Marios, primary, Peters, Ulrike, primary, Hsu, Li, primary, and Gauderman, W. James, primary

Published
2024
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33. Epidemiologic Factors in Relation to Colorectal Cancer Risk and Survival by Genotoxic Colibactin Mutational Signature

Author

Thomas, Claire E., primary, Georgeson, Peter, additional, Qu, Conghui, additional, Steinfelder, Robert S., additional, Buchanan, Daniel D., additional, Song, Mingyang, additional, Harrison, Tabitha A., additional, Um, Caroline Y., additional, Hullar, Meredith A., additional, Jenkins, Mark A., additional, Van Guelpen, Bethany, additional, Lynch, Brigid M., additional, Melaku, Yohannes Adama, additional, Huyghe, Jeroen R., additional, Aglago, Elom K., additional, Berndt, Sonja I., additional, Boardman, Lisa A., additional, Campbell, Peter T., additional, Cao, Yin, additional, Chan, Andrew T., additional, Drew, David A., additional, Figueiredo, Jane C., additional, French, Amy J., additional, Giannakis, Marios, additional, Goode, Ellen L., additional, Gruber, Stephen B., additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Hoffmeister, Michael, additional, Hsu, Li, additional, Huang, Wen-Yi, additional, Moreno, Victor, additional, Murphy, Neil, additional, Newcomb, Polly A., additional, Newton, Christina C., additional, Nowak, Jonathan A., additional, Obón-Santacana, Mireia, additional, Ogino, Shuji, additional, Sun, Wei, additional, Toland, Amanda E., additional, Trinh, Quang M., additional, Ugai, Tomotaka, additional, Zaidi, Syed H., additional, Peters, Ulrike, additional, and Phipps, Amanda I., additional

Published
2024
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35. A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.

Author

Manning, Alisa, Highland, Heather M, Gasser, Jessica, Sim, Xueling, Tukiainen, Taru, Fontanillas, Pierre, Grarup, Niels, Rivas, Manuel A, Mahajan, Anubha, Locke, Adam E, Cingolani, Pablo, Pers, Tune H, Viñuela, Ana, Brown, Andrew A, Wu, Ying, Flannick, Jason, Fuchsberger, Christian, Gamazon, Eric R, Gaulton, Kyle J, Im, Hae Kyung, Teslovich, Tanya M, Blackwell, Thomas W, Bork-Jensen, Jette, Burtt, Noël P, Chen, Yuhui, Green, Todd, Hartl, Christopher, Kang, Hyun Min, Kumar, Ashish, Ladenvall, Claes, Ma, Clement, Moutsianas, Loukas, Pearson, Richard D, Perry, John RB, Rayner, N William, Robertson, Neil R, Scott, Laura J, van de Bunt, Martijn, Eriksson, Johan G, Jula, Antti, Koskinen, Seppo, Lehtimäki, Terho, Palotie, Aarno, Raitakari, Olli T, Jacobs, Suzanne BR, Wessel, Jennifer, Chu, Audrey Y, Scott, Robert A, Goodarzi, Mark O, Blancher, Christine, Buck, Gemma, Buck, David, Chines, Peter S, Gabriel, Stacey, Gjesing, Anette P, Groves, Christopher J, Hollensted, Mette, Huyghe, Jeroen R, Jackson, Anne U, Jun, Goo, Justesen, Johanne Marie, Mangino, Massimo, Murphy, Jacquelyn, Neville, Matt, Onofrio, Robert, Small, Kerrin S, Stringham, Heather M, Trakalo, Joseph, Banks, Eric, Carey, Jason, Carneiro, Mauricio O, DePristo, Mark, Farjoun, Yossi, Fennell, Timothy, Goldstein, Jacqueline I, Grant, George, Hrabé de Angelis, Martin, Maguire, Jared, Neale, Benjamin M, Poplin, Ryan, Purcell, Shaun, Schwarzmayr, Thomas, Shakir, Khalid, Smith, Joshua D, Strom, Tim M, Wieland, Thomas, Lindstrom, Jaana, Brandslund, Ivan, Christensen, Cramer, Surdulescu, Gabriela L, Lakka, Timo A, Doney, Alex SF, Nilsson, Peter, Wareham, Nicholas J, Langenberg, Claudia, Varga, Tibor V, Franks, Paul W, Rolandsson, Olov, Rosengren, Anders H, and Farook, Vidya S

Subjects
Genetics, Diabetes, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Black or African American, Alleles, Asian People, Case-Control Studies, Diabetes Mellitus, Type 2, Fasting, Finland, Gene Frequency, Genetic Predisposition to Disease, Genotype, Hispanic or Latino, Humans, Insulin, Insulin Resistance, Odds Ratio, Proto-Oncogene Proteins c-akt, White People, Medical and Health Sciences, Endocrinology & Metabolism
Abstract

To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.

Published
2017

36. Identifying metabolic features of colorectal cancer liability using Mendelian randomization

Author

Bull, Caroline, primary, Hazelwood, Emma, primary, Bell, Joshua A, additional, Tan, Vanessa, additional, Constantinescu, Andrei-Emil, additional, Borges, Carolina, additional, Legge, Danny, additional, Burrows, Kimberley, additional, Huyghe, Jeroen R, additional, Brenner, Hermann, additional, Castellvi-Bel, Sergi, additional, Chan, Andrew T, additional, Kweon, Sun-Seog, additional, Le Marchand, Loic, 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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37. Author Response: Identifying metabolic features of colorectal cancer liability using Mendelian randomization

Author

Bull, Caroline, primary, Hazelwood, Emma, additional, Bell, Joshua A, additional, Tan, Vanessa, additional, Constantinescu, Andrei-Emil, additional, Borges, Carolina, additional, Legge, Danny, additional, Burrows, Kimberley, additional, Huyghe, Jeroen R, additional, Brenner, Hermann, additional, Castellvi-Bel, Sergi, additional, Chan, Andrew T, additional, Kweon, Sun-Seog, additional, Le Marchand, Loic, 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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38. Genome-wide gene-environment interaction analyses to understand the relationship between red meat and processed meat intake and colorectal cancer risk.

Author

Stern, Mariana C., primary, Sanchez Mendez, Joel, additional, Kim, Andre E., additional, Obón-Santacana, Mireia, additional, Moratalla-Navarro, Ferran, additional, Martín, Vicente, additional, Moreno, Victor, additional, Lin, Yi, additional, Bien, Stephanie A., additional, Qu, Conghui, additional, Su, Yu-Ru, additional, White, Emily, additional, Harrison, Tabitha A., additional, Huyghe, Jeroen R., additional, Tangen, Catherine M., additional, Newcomb, Polly A., additional, Phipps, Amanda I., additional, Thomas, Claire E., additional, Kawaguchi, Eric S., additional, Lewinger, Juan Pablo, additional, Morrison, John L., additional, Conti, David V., additional, Wang, Jun, additional, Thomas, Duncan C., additional, Platz, Elizabeth A., additional, Visvanathan, Kala, additional, Keku, Temitope O., additional, Newton, Christina C., additional, Um, Caroline Y., additional, Kundaje, Anshul, additional, Shcherbina, Anna, additional, Murphy, Neil, additional, Gunter, Marc J., additional, Dimou, Niki, additional, Papadimitriou, Nikos, additional, Bézieau, Stéphane, additional, van Duijnhoven, Fränzel JB., additional, Männistö, Satu, additional, Rennert, Gad, additional, Wolk, Alicja, additional, Hoffmeister, Michael, additional, Brenner, Hermann, additional, Chang-Claude, Jenny, additional, Tian, Yu, additional, Le Marchand, Loïc, additional, Cotterchio, Michelle, additional, Tsilidis, Konstantinos K., additional, Bishop, D Timothy Timothy., additional, Melaku, Yohannes Adama, additional, Lynch, Brigid M., additional, Buchanan, Daniel D., additional, Ulrich, Cornelia M., additional, Ose, Jennifer, additional, Peoples, Anita R., additional, Pellatt, Andrew J., additional, Li, Li, additional, Devall, Matthew AM., additional, Campbell, Peter T., additional, Albanes, Demetrius, additional, Weinstein, Stephanie J., additional, Berndt, Sonja I., additional, Gruber, Stephen B., additional, Ruiz-Narvaez, Edward, additional, Song, Mingyang, additional, Joshi, Amit D., additional, Drew, David A., additional, Petrick, Jessica L., additional, Chan, Andrew T., additional, Giannakis, Marios, additional, Peters, Ulrike, additional, Hsu, Li, additional, and Gauderman, W James, additional

Published
2023
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39. 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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40. 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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42. Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.

Author

Mahajan, Anubha, Sim, Xueling, Ng, Hui Jin, Manning, Alisa, Rivas, Manuel A, Highland, Heather M, Locke, Adam E, Grarup, Niels, Im, Hae Kyung, Cingolani, Pablo, Flannick, Jason, Fontanillas, Pierre, Fuchsberger, Christian, Gaulton, Kyle J, Teslovich, Tanya M, Rayner, N William, Robertson, Neil R, Beer, Nicola L, Rundle, Jana K, Bork-Jensen, Jette, Ladenvall, Claes, Blancher, Christine, Buck, David, Buck, Gemma, Burtt, Noël P, Gabriel, Stacey, Gjesing, Anette P, Groves, Christopher J, Hollensted, Mette, Huyghe, Jeroen R, Jackson, Anne U, Jun, Goo, Justesen, Johanne Marie, Mangino, Massimo, Murphy, Jacquelyn, Neville, Matt, Onofrio, Robert, Small, Kerrin S, Stringham, Heather M, Syvänen, Ann-Christine, Trakalo, Joseph, Abecasis, Goncalo, Bell, Graeme I, Blangero, John, Cox, Nancy J, Duggirala, Ravindranath, Hanis, Craig L, Seielstad, Mark, Wilson, James G, Christensen, Cramer, Brandslund, Ivan, Rauramaa, Rainer, Surdulescu, Gabriela L, Doney, Alex SF, Lannfelt, Lars, Linneberg, Allan, Isomaa, Bo, Tuomi, Tiinamaija, Jørgensen, Marit E, Jørgensen, Torben, Kuusisto, Johanna, Uusitupa, Matti, Salomaa, Veikko, Spector, Timothy D, Morris, Andrew D, Palmer, Colin NA, Collins, Francis S, Mohlke, Karen L, Bergman, Richard N, Ingelsson, Erik, Lind, Lars, Tuomilehto, Jaakko, Hansen, Torben, Watanabe, Richard M, Prokopenko, Inga, Dupuis, Josee, Karpe, Fredrik, Groop, Leif, Laakso, Markku, Pedersen, Oluf, Florez, Jose C, Morris, Andrew P, Altshuler, David, Meigs, James B, Boehnke, Michael, McCarthy, Mark I, Lindgren, Cecilia M, Gloyn, Anna L, and T2D-GENES consortium and GoT2D consortium

Subjects
T2D-GENES consortium and GoT2D consortium, Humans, Diabetes Mellitus, Type 2, Insulin, Glucose-6-Phosphatase, Blood Glucose, Receptors, Glucagon, Glycemic Index, Gene Frequency, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Exome, Glucagon-Like Peptide-1 Receptor, Diabetes Mellitus, Type 2, Receptors, Glucagon, Polymorphism, Single Nucleotide, Genetics, Developmental Biology
Abstract

Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contribute substantially to unexplained genetic variance. To test this, we analyzed exome-array data from up to 33,231 non-diabetic individuals of European ancestry. We found exome-wide significant (P

Published
2015

43. Genome-Wide Gene-Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk.

Author

Stern, Mariana C., Mendez, Joel Sanchez, Kim, Andre E., Obón-Santacana, Mireia, Moratalla-Navarro, Ferran, Martín, Vicente, Moreno, Victor, Yi Lin, Bien, Stephanie A., Conghui Qu, Yu-Ru Su, White, Emily, Harrison, Tabitha A., Huyghe, Jeroen R., Tangen, Catherine M., Newcomb, Polly A., Phipps, Amanda I., Thomas, Claire E., Kawaguchi, Eric S., and Lewinger, Juan Pablo

Abstract

Background: High red meat and/or processed meat consumption are established colorectal cancer risk factors. We conducted a genome-wide gene-environment (GxE) interaction analysis to identify genetic variants that may modify these associations. Methods: A pooled sample of 29,842 colorectal cancer cases and 39,635 controls of European ancestry from 27 studies were included. Quantiles for red meat and processed meat intake were constructed from harmonized questionnaire data. Genotyping arrays were imputed to the Haplotype Reference Consortium. Two-step EDGE and joint tests of GxE interaction were utilized in our genome-wide scan. Results: Meta-analyses confirmed positive associations between increased consumption of red meat and processed meat with colorectal cancer risk [per quartile red meat OR = 1.30; 95% confidence interval (CI) = 1.21-1.41; processed meat OR = 1.40; 95% CI = 1.20-1.63]. Two significant genome-wide GxE interactions for red meat consumption were found. Joint GxE tests revealed the rs4871179 SNP in chromosome 8 (downstream of HAS2); greater than median of consumption ORs = 1.38 (95% CI = 1.29-1.46), 1.20 (95% CI = 1.12-1.27), and 1.07 (95% CI = 0.95-1.19) for CC, CG, and GG, respectively. The two-step EDGE method identified the rs35352860 SNP in chromosome 18 (SMAD7 intron); greater than median of consumption ORs = 1.18 (95% CI = 1.11-1.24), 1.35 (95% CI = 1.26-1.44), and 1.46 (95% CI = 1.26-1.69) for CC, CT, and TT, respectively. Conclusions: We propose two novel biomarkers that support the role of meat consumption with an increased risk of colorectal cancer. [ABSTRACT FROM AUTHOR]

Published
2024
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44. Novel insights into genetic susceptibility for colorectal cancer from transcriptome-wide association and functional investigation.

Author

Chen, Zhishan, Song, Wenqiang, Shu, Xiao-Ou, Wen, Wanqing, Devall, Matthew, Dampier, Christopher, Moratalla-Navarro, Ferran, Cai, Qiuyin, Long, Jirong, Kaer, Luc Van, Wu, Lan, Huyghe, Jeroen R, Thomas, Minta, Hsu, Li, Woods, Michael O, Albanes, Demetrius, Buchanan, Daniel D, Gsur, Andrea, Hoffmeister, Michael, and Vodicka, Pavel

Subjects
ALTERNATIVE RNA splicing, COLORECTAL cancer, GENE expression, GENETIC engineering, CANCER susceptibility
Abstract

Background Transcriptome-wide association studies have been successful in identifying candidate susceptibility genes for colorectal cancer (CRC). To strengthen susceptibility gene discovery, we conducted a large transcriptome-wide association study and an alternative splicing transcriptome-wide association study in CRC using improved genetic prediction models and performed in-depth functional investigations. Methods We analyzed RNA-sequencing data from normal colon tissues and genotype data from 423 European descendants to build genetic prediction models of gene expression and alternative splicing and evaluated model performance using independent RNA-sequencing data from normal colon tissues of the Genotype-Tissue Expression Project. We applied the verified models to genome-wide association studies (GWAS) summary statistics among 58 131 CRC cases and 67 347 controls of European ancestry to evaluate associations of genetically predicted gene expression and alternative splicing with CRC risk. We performed in vitro functional assays for 3 selected genes in multiple CRC cell lines. Results We identified 57 putative CRC susceptibility genes, which included the 48 genes from transcriptome-wide association studies and 15 genes from splicing transcriptome-wide association studies, at a Bonferroni-corrected P  value less than  .05. Of these, 16 genes were not previously implicated in CRC susceptibility, including a gene PDE7B (6q23.3) at locus previously not reported by CRC GWAS. Gene knockdown experiments confirmed the oncogenic roles for 2 unreported genes, TRPS1 and METRNL , and a recently reported gene, C14orf166. Conclusion This study discovered new putative susceptibility genes of CRC and provided novel insights into the biological mechanisms underlying CRC development. [ABSTRACT FROM AUTHOR]

Published
2024
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45. Circulating white blood cell traits and colorectal cancer risk: A Mendelian randomisation study.

Author

Constantinescu, Andrei‐Emil, Bull, Caroline J., Jones, Nicholas, Mitchell, Ruth, Burrows, Kimberley, Dimou, Niki, Bézieau, Stéphane, Brenner, Hermann, Buchanan, Daniel D., D'Amato, Mauro, Jenkins, Mark A., Moreno, Victor, Pai, Rish K., Um, Caroline Y., White, Emily, Murphy, Neil, Gunter, Marc, Timpson, Nicholas J., Huyghe, Jeroen R., and Vincent, Emma E.

Subjects
LEUCOCYTES, COLORECTAL cancer, DISEASE risk factors, BLOOD cells, EOSINOPHILS, HEREDITARY nonpolyposis colorectal cancer
Abstract

Observational studies have suggested a protective role for eosinophils in colorectal cancer (CRC) development and implicated neutrophils, but the causal relationships remain unclear. Here, we aimed to estimate the causal effect of circulating white blood cell (WBC) counts (N = ~550 000) for basophils, eosinophils, monocytes, lymphocytes and neutrophils on CRC risk (N = 52 775 cases and 45 940 controls) using Mendelian randomisation (MR). For comparison, we also examined this relationship using individual‐level data from UK Biobank (4043 incident CRC cases and 332 773 controls) in a longitudinal cohort analysis. The inverse‐variance weighted (IVW) MR analysis suggested a protective effect of increased basophil count and eosinophil count on CRC risk [OR per 1‐SD increase: 0.88, 95% CI: 0.78‐0.99, P =.04; OR: 0.93, 95% CI: 0.88‐0.98, P =.01]. The protective effect of eosinophils remained [OR per 1‐SD increase: 0.88, 95% CI: 0.80‐0.97, P =.01] following adjustments for all other WBC subtypes, to account for genetic correlation between the traits, using multivariable MR. A protective effect of increased lymphocyte count on CRC risk was also found [OR: 0.84, 95% CI: 0.76‐0.93, P = 6.70e‐4] following adjustment. Consistent with MR results, a protective effect for eosinophils in the cohort analysis in the fully adjusted model [RR per 1‐SD increase: 0.96, 95% CI: 0.93‐0.99, P =.02] and following adjustment for the other WBC subtypes [RR: 0.96, 95% CI: 0.93‐0.99, P =.001] was observed. Our study implicates peripheral blood immune cells, in particular eosinophils and lymphocytes, in CRC development, highlighting a need for mechanistic studies to interrogate these relationships. [ABSTRACT FROM AUTHOR]

Published
2024
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46. Circulating white blood cell traits and colorectal cancer risk: A Mendelian randomisation study

Author

Constantinescu, Andrei‐Emil, primary, Bull, Caroline J., additional, Jones, Nicholas, additional, Mitchell, Ruth, additional, Burrows, Kimberley, additional, Dimou, Niki, additional, Bézieau, Stéphane, additional, Brenner, Hermann, additional, Buchanan, Daniel D., additional, D'Amato, Mauro, additional, Jenkins, Mark A., additional, Moreno, Victor, additional, Pai, Rish K., additional, Um, Caroline Y., additional, White, Emily, additional, Murphy, Neil, additional, Gunter, Marc, additional, Timpson, Nicholas J., additional, Huyghe, Jeroen R., additional, and Vincent, Emma E., additional

Published
2023
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47. Data from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk

Author

Aglago, Elom K., primary, Kim, Andre, primary, Lin, Yi, primary, Qu, Conghui, primary, Evangelou, Marina, primary, Ren, Yu, primary, Morrison, John, primary, Albanes, Demetrius, primary, Arndt, Volker, primary, Barry, Elizabeth L., primary, Baurley, James W., primary, Berndt, Sonja I., primary, Bien, Stephanie A., primary, Bishop, D. Timothy, primary, Bouras, Emmanouil, primary, Brenner, Hermann, primary, Buchanan, Daniel D., primary, Budiarto, Arif, primary, Carreras-Torres, Robert, primary, Casey, Graham, primary, Cenggoro, Tjeng Wawan, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Chen, Xuechen, primary, Conti, David V., primary, Devall, Matthew, primary, Diez-Obrero, Virginia, primary, Dimou, Niki, primary, Drew, David, primary, Figueiredo, Jane C., primary, Gallinger, Steven, primary, Giles, Graham G., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hampel, Heather, primary, Harlid, Sophia, primary, Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, Huyghe, Jeroen R., primary, Jenkins, Mark A., primary, Jordahl, Kristina, primary, Joshi, Amit D., primary, Kawaguchi, Eric S., primary, Keku, Temitope O., primary, Kundaje, Anshul, primary, Larsson, Susanna C., primary, Marchand, Loic Le, primary, Lewinger, Juan Pablo, primary, Li, Li, primary, Lynch, Brigid M., primary, Mahesworo, Bharuno, primary, Mandic, Marko, primary, Obón-Santacana, Mireia, primary, Moreno, Victor, primary, Murphy, Neil, primary, Nan, Hongmei, primary, Nassir, Rami, primary, Newcomb, Polly A., primary, Ogino, Shuji, primary, Ose, Jennifer, primary, Pai, Rish K., primary, Palmer, Julie R., primary, Papadimitriou, Nikos, primary, Pardamean, Bens, primary, Peoples, Anita R., primary, Platz, Elizabeth A., primary, Potter, John D., primary, Prentice, Ross L., primary, Rennert, Gad, primary, Ruiz-Narvaez, Edward, primary, Sakoda, Lori C., primary, Scacheri, Peter C., primary, Schmit, Stephanie L., primary, Schoen, Robert E., primary, Shcherbina, Anna, primary, Slattery, Martha L., primary, Stern, Mariana C., primary, Su, Yu-Ru, primary, Tangen, Catherine M., primary, Thibodeau, Stephen N., primary, Thomas, Duncan C., primary, Tian, Yu, primary, Ulrich, Cornelia M., primary, van Duijnhoven, Franzel JB, primary, Van Guelpen, Bethany, primary, Visvanathan, Kala, primary, Vodicka, Pavel, primary, Wang, Jun, primary, White, Emily, primary, Wolk, Alicja, primary, Woods, Michael O., primary, Wu, Anna H., primary, Zemlianskaia, Natalia, primary, Hsu, Li, primary, Gauderman, W. James, primary, Peters, Ulrike, primary, Tsilidis, Konstantinos K., primary, and Campbell, Peter T., primary

Published
2023
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48. Supplementary Data from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk

Author

Aglago, Elom K., primary, Kim, Andre, primary, Lin, Yi, primary, Qu, Conghui, primary, Evangelou, Marina, primary, Ren, Yu, primary, Morrison, John, primary, Albanes, Demetrius, primary, Arndt, Volker, primary, Barry, Elizabeth L., primary, Baurley, James W., primary, Berndt, Sonja I., primary, Bien, Stephanie A., primary, Bishop, D. Timothy, primary, Bouras, Emmanouil, primary, Brenner, Hermann, primary, Buchanan, Daniel D., primary, Budiarto, Arif, primary, Carreras-Torres, Robert, primary, Casey, Graham, primary, Cenggoro, Tjeng Wawan, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Chen, Xuechen, primary, Conti, David V., primary, Devall, Matthew, primary, Diez-Obrero, Virginia, primary, Dimou, Niki, primary, Drew, David, primary, Figueiredo, Jane C., primary, Gallinger, Steven, primary, Giles, Graham G., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hampel, Heather, primary, Harlid, Sophia, primary, Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, Huyghe, Jeroen R., primary, Jenkins, Mark A., primary, Jordahl, Kristina, primary, Joshi, Amit D., primary, Kawaguchi, Eric S., primary, Keku, Temitope O., primary, Kundaje, Anshul, primary, Larsson, Susanna C., primary, Marchand, Loic Le, primary, Lewinger, Juan Pablo, primary, Li, Li, primary, Lynch, Brigid M., primary, Mahesworo, Bharuno, primary, Mandic, Marko, primary, Obón-Santacana, Mireia, primary, Moreno, Victor, primary, Murphy, Neil, primary, Nan, Hongmei, primary, Nassir, Rami, primary, Newcomb, Polly A., primary, Ogino, Shuji, primary, Ose, Jennifer, primary, Pai, Rish K., primary, Palmer, Julie R., primary, Papadimitriou, Nikos, primary, Pardamean, Bens, primary, Peoples, Anita R., primary, Platz, Elizabeth A., primary, Potter, John D., primary, Prentice, Ross L., primary, Rennert, Gad, primary, Ruiz-Narvaez, Edward, primary, Sakoda, Lori C., primary, Scacheri, Peter C., primary, Schmit, Stephanie L., primary, Schoen, Robert E., primary, Shcherbina, Anna, primary, Slattery, Martha L., primary, Stern, Mariana C., primary, Su, Yu-Ru, primary, Tangen, Catherine M., primary, Thibodeau, Stephen N., primary, Thomas, Duncan C., primary, Tian, Yu, primary, Ulrich, Cornelia M., primary, van Duijnhoven, Franzel JB, primary, Van Guelpen, Bethany, primary, Visvanathan, Kala, primary, Vodicka, Pavel, primary, Wang, Jun, primary, White, Emily, primary, Wolk, Alicja, primary, Woods, Michael O., primary, Wu, Anna H., primary, Zemlianskaia, Natalia, primary, Hsu, Li, primary, Gauderman, W. James, primary, Peters, Ulrike, primary, Tsilidis, Konstantinos K., primary, and Campbell, Peter T., primary

Published
2023
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49. Table 2 from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk

Author

Aglago, Elom K., primary, Kim, Andre, primary, Lin, Yi, primary, Qu, Conghui, primary, Evangelou, Marina, primary, Ren, Yu, primary, Morrison, John, primary, Albanes, Demetrius, primary, Arndt, Volker, primary, Barry, Elizabeth L., primary, Baurley, James W., primary, Berndt, Sonja I., primary, Bien, Stephanie A., primary, Bishop, D. Timothy, primary, Bouras, Emmanouil, primary, Brenner, Hermann, primary, Buchanan, Daniel D., primary, Budiarto, Arif, primary, Carreras-Torres, Robert, primary, Casey, Graham, primary, Cenggoro, Tjeng Wawan, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Chen, Xuechen, primary, Conti, David V., primary, Devall, Matthew, primary, Diez-Obrero, Virginia, primary, Dimou, Niki, primary, Drew, David, primary, Figueiredo, Jane C., primary, Gallinger, Steven, primary, Giles, Graham G., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hampel, Heather, primary, Harlid, Sophia, primary, Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, Huyghe, Jeroen R., primary, Jenkins, Mark A., primary, Jordahl, Kristina, primary, Joshi, Amit D., primary, Kawaguchi, Eric S., primary, Keku, Temitope O., primary, Kundaje, Anshul, primary, Larsson, Susanna C., primary, Marchand, Loic Le, primary, Lewinger, Juan Pablo, primary, Li, Li, primary, Lynch, Brigid M., primary, Mahesworo, Bharuno, primary, Mandic, Marko, primary, Obón-Santacana, Mireia, primary, Moreno, Victor, primary, Murphy, Neil, primary, Nan, Hongmei, primary, Nassir, Rami, primary, Newcomb, Polly A., primary, Ogino, Shuji, primary, Ose, Jennifer, primary, Pai, Rish K., primary, Palmer, Julie R., primary, Papadimitriou, Nikos, primary, Pardamean, Bens, primary, Peoples, Anita R., primary, Platz, Elizabeth A., primary, Potter, John D., primary, Prentice, Ross L., primary, Rennert, Gad, primary, Ruiz-Narvaez, Edward, primary, Sakoda, Lori C., primary, Scacheri, Peter C., primary, Schmit, Stephanie L., primary, Schoen, Robert E., primary, Shcherbina, Anna, primary, Slattery, Martha L., primary, Stern, Mariana C., primary, Su, Yu-Ru, primary, Tangen, Catherine M., primary, Thibodeau, Stephen N., primary, Thomas, Duncan C., primary, Tian, Yu, primary, Ulrich, Cornelia M., primary, van Duijnhoven, Franzel JB, primary, Van Guelpen, Bethany, primary, Visvanathan, Kala, primary, Vodicka, Pavel, primary, Wang, Jun, primary, White, Emily, primary, Wolk, Alicja, primary, Woods, Michael O., primary, Wu, Anna H., primary, Zemlianskaia, Natalia, primary, Hsu, Li, primary, Gauderman, W. James, primary, Peters, Ulrike, primary, Tsilidis, Konstantinos K., primary, and Campbell, Peter T., primary

Published
2023
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50. Table 1 from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk

Author

Aglago, Elom K., primary, Kim, Andre, primary, Lin, Yi, primary, Qu, Conghui, primary, Evangelou, Marina, primary, Ren, Yu, primary, Morrison, John, primary, Albanes, Demetrius, primary, Arndt, Volker, primary, Barry, Elizabeth L., primary, Baurley, James W., primary, Berndt, Sonja I., primary, Bien, Stephanie A., primary, Bishop, D. Timothy, primary, Bouras, Emmanouil, primary, Brenner, Hermann, primary, Buchanan, Daniel D., primary, Budiarto, Arif, primary, Carreras-Torres, Robert, primary, Casey, Graham, primary, Cenggoro, Tjeng Wawan, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Chen, Xuechen, primary, Conti, David V., primary, Devall, Matthew, primary, Diez-Obrero, Virginia, primary, Dimou, Niki, primary, Drew, David, primary, Figueiredo, Jane C., primary, Gallinger, Steven, primary, Giles, Graham G., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hampel, Heather, primary, Harlid, Sophia, primary, Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, Huyghe, Jeroen R., primary, Jenkins, Mark A., primary, Jordahl, Kristina, primary, Joshi, Amit D., primary, Kawaguchi, Eric S., primary, Keku, Temitope O., primary, Kundaje, Anshul, primary, Larsson, Susanna C., primary, Marchand, Loic Le, primary, Lewinger, Juan Pablo, primary, Li, Li, primary, Lynch, Brigid M., primary, Mahesworo, Bharuno, primary, Mandic, Marko, primary, Obón-Santacana, Mireia, primary, Moreno, Victor, primary, Murphy, Neil, primary, Nan, Hongmei, primary, Nassir, Rami, primary, Newcomb, Polly A., primary, Ogino, Shuji, primary, Ose, Jennifer, primary, Pai, Rish K., primary, Palmer, Julie R., primary, Papadimitriou, Nikos, primary, Pardamean, Bens, primary, Peoples, Anita R., primary, Platz, Elizabeth A., primary, Potter, John D., primary, Prentice, Ross L., primary, Rennert, Gad, primary, Ruiz-Narvaez, Edward, primary, Sakoda, Lori C., primary, Scacheri, Peter C., primary, Schmit, Stephanie L., primary, Schoen, Robert E., primary, Shcherbina, Anna, primary, Slattery, Martha L., primary, Stern, Mariana C., primary, Su, Yu-Ru, primary, Tangen, Catherine M., primary, Thibodeau, Stephen N., primary, Thomas, Duncan C., primary, Tian, Yu, primary, Ulrich, Cornelia M., primary, van Duijnhoven, Franzel JB, primary, Van Guelpen, Bethany, primary, Visvanathan, Kala, primary, Vodicka, Pavel, primary, Wang, Jun, primary, White, Emily, primary, Wolk, Alicja, primary, Woods, Michael O., primary, Wu, Anna H., primary, Zemlianskaia, Natalia, primary, Hsu, Li, primary, Gauderman, W. James, primary, Peters, Ulrike, primary, Tsilidis, Konstantinos K., primary, and Campbell, Peter T., primary

Published
2023
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