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1,683 results on '"Gruber, Stephen B"'

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. Germline genetic regulation of the colorectal tumor immune microenvironment

Author

Schmit, Stephanie L., Tsai, Ya-Yu, Bonner, Joseph D., Sanz-Pamplona, Rebeca, Joshi, Amit D., Ugai, Tomotaka, Lindsey, Sidney S., Melas, Marilena, McDonnell, Kevin J., Idos, Gregory E., Walker, Christopher P., Qu, Chenxu, Kast, W. Martin, Da Silva, Diane M., Glickman, Jonathan N., Chan, Andrew T., Giannakis, Marios, Nowak, Jonathan A., Rennert, Hedy S., Robins, Harlan S., Ogino, Shuji, Greenson, Joel K., Moreno, Victor, Rennert, Gad, and Gruber, Stephen B.

Published
2024
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4. Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions

Author

Lindström, Sara, Wang, Lu, Feng, Helian, Majumdar, Arunabha, Huo, Sijia, Macdonald, James, Harrison, Tabitha, Turman, Constance, Chen, Hongjie, Mancuso, Nicholas, Bammler, Theo, Consortium, Breast Cancer Association, Gallinger, Steve, Gruber, Stephen B, Gunter, Marc J, Le Marchand, Loic, Moreno, Victor, Offit, Kenneth, Study, Genetics And Epidemiology Of Colorectal Cancer Consortium Colorectal Transdisciplinary Study Colon Cancer Family Registry, De Vivo, Immaculata, O’Mara, Tracy A, Spurdle, Amanda B, Tomlinson, Ian, Consortium, Endometrial Cancer Association, Fitzgerald, Rebecca, Gharahkhani, Puya, Gockel, Ines, Jankowski, Janusz, Macgregor, Stuart, Schumacher, Johannes, Barnholtz-Sloan, Jill, Bondy, Melissa L, Houlston, Richard S, Jenkins, Robert B, Melin, Beatrice, Wrensch, Margaret, Brennan, Paul, Christiani, David C, Johansson, Mattias, Mckay, James, Aldrich, Melinda C, Amos, Christopher I, Landi, Maria Teresa, Tardon, Adonina, Consortium, International Lung Cancer, Bishop, D Timothy, Demenais, Florence, Goldstein, Alisa M, Iles, Mark M, Kanetsky, Peter A, Law, Matthew H, Consortium, Ovarian Cancer Association, Amundadottir, Laufey T, Stolzenberg-Solomon, Rachael, Wolpin, Brian M, Consortium, Pancreatic Cancer Cohort, Klein, Alison, Petersen, Gloria, Risch, Harvey, Consortium, The PRACTICAL Consortium Pancreatic Cancer Case-Control, Chanock, Stephen J, Purdue, Mark P, Scelo, Ghislaine, Pharoah, Paul, Kar, Siddhartha, Hung, Rayjean J, Pasaniuc, Bogdan, and Kraft, Peter

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Human Genome, Genetics, Digestive Diseases, Prevention, Clinical Research, Urologic Diseases, Cancer, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Male, Humans, Genome-Wide Association Study, Genetic Predisposition to Disease, Neoplasms, Risk Factors, Transcriptome, Polymorphism, Single Nucleotide, Breast Cancer Association Consortium, Colorectal Transdisciplinary Study (CORECT), Colon Cancer Family Registry Study (CCFR), Genetics And Epidemiology Of Colorectal Cancer Consortium, Endometrial Cancer Association Consortium, International Lung Cancer Consortium, Ovarian Cancer Association Consortium, Pancreatic Cancer Cohort Consortium, Pancreatic Cancer Case-Control Consortium (Panc4), The PRACTICAL Consortium, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundThe shared inherited genetic contribution to risk of different cancers is not fully known. In this study, we leverage results from 12 cancer genome-wide association studies (GWAS) to quantify pairwise genome-wide genetic correlations across cancers and identify novel cancer susceptibility loci.MethodsWe collected GWAS summary statistics for 12 solid cancers based on 376 759 participants with cancer and 532 864 participants without cancer of European ancestry. The included cancer types were breast, colorectal, endometrial, esophageal, glioma, head and neck, lung, melanoma, ovarian, pancreatic, prostate, and renal cancers. We conducted cross-cancer GWAS and transcriptome-wide association studies to discover novel cancer susceptibility loci. Finally, we assessed the extent of variant-specific pleiotropy among cancers at known and newly identified cancer susceptibility loci.ResultsWe observed widespread but modest genome-wide genetic correlations across cancers. In cross-cancer GWAS and transcriptome-wide association studies, we identified 15 novel cancer susceptibility loci. Additionally, we identified multiple variants at 77 distinct loci with strong evidence of being associated with at least 2 cancer types by testing for pleiotropy at known cancer susceptibility loci.ConclusionsOverall, these results suggest that some genetic risk variants are shared among cancers, though much of cancer heritability is cancer-specific and thus tissue-specific. The increase in statistical power associated with larger sample sizes in cross-disease analysis allows for the identification of novel susceptibility regions. Future studies incorporating data on multiple cancer types are likely to identify additional regions associated with the risk of multiple cancer types.

Published
2023

5. Fully transformer-based biomarker prediction from colorectal cancer histology: a large-scale multicentric study

Author

Wagner, Sophia J., Reisenbüchler, Daniel, West, Nicholas P., Niehues, Jan Moritz, Veldhuizen, Gregory Patrick, Quirke, Philip, Grabsch, Heike I., Brandt, Piet A. van den, Hutchins, Gordon G. A., Richman, Susan D., Yuan, Tanwei, Langer, Rupert, Jenniskens, Josien Christina Anna, Offermans, Kelly, Mueller, Wolfram, Gray, Richard, Gruber, Stephen B., Greenson, Joel K., Rennert, Gad, Bonner, Joseph D., Schmolze, Daniel, James, Jacqueline A., Loughrey, Maurice B., Salto-Tellez, Manuel, Brenner, Hermann, Hoffmeister, Michael, Truhn, Daniel, Schnabel, Julia A., Boxberg, Melanie, Peng, Tingying, and Kather, Jakob Nikolas

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

Background: Deep learning (DL) can extract predictive and prognostic biomarkers from routine pathology slides in colorectal cancer. For example, a DL test for the diagnosis of microsatellite instability (MSI) in CRC has been approved in 2022. Current approaches rely on convolutional neural networks (CNNs). Transformer networks are outperforming CNNs and are replacing them in many applications, but have not been used for biomarker prediction in cancer at a large scale. In addition, most DL approaches have been trained on small patient cohorts, which limits their clinical utility. Methods: In this study, we developed a new fully transformer-based pipeline for end-to-end biomarker prediction from pathology slides. We combine a pre-trained transformer encoder and a transformer network for patch aggregation, capable of yielding single and multi-target prediction at patient level. We train our pipeline on over 9,000 patients from 10 colorectal cancer cohorts. Results: A fully transformer-based approach massively improves the performance, generalizability, data efficiency, and interpretability as compared with current state-of-the-art algorithms. After training on a large multicenter cohort, we achieve a sensitivity of 0.97 with a negative predictive value of 0.99 for MSI prediction on surgical resection specimens. We demonstrate for the first time that resection specimen-only training reaches clinical-grade performance on endoscopic biopsy tissue, solving a long-standing diagnostic problem. Interpretation: A fully transformer-based end-to-end pipeline trained on thousands of pathology slides yields clinical-grade performance for biomarker prediction on surgical resections and biopsies. Our new methods are freely available under an open source license., Comment: Updated Figure 2 and Table A.5

Published
2023

6. 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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7. 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

8. 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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9. 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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10. Author Correction: Application of Mendelian randomization to explore the causal role of the human gut microbiome in colorectal cancer

Author

Hatcher, Charlie, Richenberg, George, Waterson, Samuel, Nguyen, Long H., Joshi, Amit D., Carreras-Torres, Robert, Moreno, Victor, Chan, Andrew T., Gunter, Marc, Lin, Yi, Qu, Conghui, Song, Mingyang, Casey, Graham, Figueiredo, Jane C., Gruber, Stephen B., Hampe, Jochen, Hampel, Heather, Jenkins, Mark A., Keku, Temitope O., Peters, Ulrike, Tangen, Catherine M., Wu, Anna H., Hughes, David A., Rühlemann, Malte C., Raes, Jeroen, Timpson, Nicholas J., and Wade, Kaitlin H.

Published
2023
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11. Application of Mendelian randomization to explore the causal role of the human gut microbiome in colorectal cancer

Author

Hatcher, Charlie, Richenberg, George, Waterson, Samuel, Nguyen, Long H., Joshi, Amit D., Carreras-Torres, Robert, Moreno, Victor, Chan, Andrew T., Gunter, Marc, Lin, Yi, Qu, Conghui, Song, Mingyang, Casey, Graham, Figueiredo, Jane C., Gruber, Stephen B., Hampe, Jochen, Hampel, Heather, Jenkins, Mark A., Keku, Temitope O., Peters, Ulrike, Tangen, Catherine M., Wu, Anna H., Hughes, David A., Rühlemann, Malte C., Raes, Jeroen, Timpson, Nicholas J., and Wade, Kaitlin H.

Published
2023
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12. Statistical methods for Mendelian models with multiple genes and cancers

Author

Liang, Jane W., Idos, Gregory E., Hong, Christine, Gruber, Stephen B., Parmigiani, Giovanni, and Braun, Danielle

Subjects
Statistics - Methodology
Abstract

Risk evaluation to identify individuals who are at greater risk of cancer as a result of heritable pathogenic variants is a valuable component of individualized clinical management. Using principles of Mendelian genetics, Bayesian probability theory, and variant-specific knowledge, Mendelian models derive the probability of carrying a pathogenic variant and developing cancer in the future, based on family history. Existing Mendelian models are widely employed, but are generally limited to specific genes and syndromes. However, the upsurge of multi-gene panel germline testing has spurred the discovery of many new gene-cancer associations that are not presently accounted for in these models. We have developed PanelPRO, a flexible, efficient Mendelian risk prediction framework that can incorporate an arbitrary number of genes and cancers, overcoming the computational challenges that arise because of the increased model complexity. We implement an eleven-gene, eleven-cancer model, the largest Mendelian model created thus far, based on this framework. Using simulations and a clinical cohort with germline panel testing data, we evaluate model performance, validate the reverse-compatibility of our approach with existing Mendelian models, and illustrate its usage. Our implementation is freely available for research use in the PanelPRO R package., Comment: 18 pages, 7 figures

Published
2021

13. 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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14. 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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15. Disease-Associated Risk Variants in ANRIL Are Associated with Tumor-Infiltrating Lymphocyte Presence in Primary Melanomas in the Population-Based GEM Study

Author

Davari, Danielle R, Orlow, Irene, Kanetsky, Peter A, Luo, Li, Edmiston, Sharon N, Conway, Kathleen, Parrish, Eloise A, Hao, Honglin, Busam, Klaus J, Sharma, Ajay, Kricker, Anne, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Dwyer, Terence, Ollila, David W, Begg, Colin B, Berwick, Marianne, Thomas, Nancy E, and Group, on behalf of the GEM Study

Subjects
Clinical Research, Human Genome, Cardiovascular, Cancer, Genetics, Diabetes, Heart Disease, Heart Disease - Coronary Heart Disease, Aged, Cyclin-Dependent Kinase Inhibitor p15, Female, GTP Phosphohydrolases, Genome-Wide Association Study, Humans, Lymphocytes, Tumor-Infiltrating, Male, Melanoma, Membrane Proteins, Middle Aged, Mutation, Proto-Oncogene Proteins B-raf, Skin Neoplasms, coronary artery disease, coronary artery calci fi cation, myocardial, GEM Study Group, Medical and Health Sciences, Epidemiology
Abstract

BackgroundGenome-wide association studies have reported that genetic variation at ANRIL (CDKN2B-AS1) is associated with risk of several chronic diseases including coronary artery disease, coronary artery calcification, myocardial infarction, and type 2 diabetes mellitus. ANRIL is located at the CDKN2A/B locus, which encodes multiple melanoma tumor suppressors. We investigated the association of these variants with melanoma prognostic characteristics.MethodsThe Genes, Environment, and Melanoma Study enrolled 3,285 European origin participants with incident invasive primary melanoma. For each of ten disease-associated SNPs at or near ANRIL, we used linear and logistic regression modeling to estimate, respectively, the per allele mean changes in log of Breslow thickness and ORs for presence of ulceration and tumor-infiltrating lymphocytes (TIL). We also assessed effect modification by tumor NRAS/BRAF mutational status.ResultsRs518394, rs10965215, and rs564398 passed false discovery and were each associated (P ≤ 0.005) with TILs, although only rs564398 was independently associated (P = 0.0005) with TILs. Stratified by NRAS/BRAF mutational status, rs564398*A was significantly positively associated with TILs among NRAS/BRAF mutant, but not wild-type, cases. We did not find SNP associations with Breslow thickness or ulceration.ConclusionsANRIL rs564398 was associated with TIL presence in primary melanomas, and this association may be limited to NRAS/BRAF-mutant cases.ImpactPathways related to ANRIL variants warrant exploration in relationship to TILs in melanoma, especially given the impact of TILs on immunotherapy and survival.

Published
2021

16. Comparison of community pathologists with expert dermatopathologists evaluating Breslow thickness and histopathologic subtype in a large international population-based study of melanoma

Author

Yardman-Frank, Joseph Michael, Bronner, Baillie, Rosso, Stefano, From, Lynn, Busam, Klaus, Groben, Pam, Tucker, Paul, Cust, Anne, Armstrong, Bruce, Kricker, Anne, Marrett, Loraine, Anton-Culver, Hoda, Gruber, Stephen, Gallagher, Rick, Zanetti, Roberto, Sacchetto, Lidia, Dwyer, Terry, Venn, Alison, Orlow, Irene, Kanetsky, Peter, Luo, Li, Thomas, Nancy, Begg, Colin, Berwick, Marianne, Team, GEM Study, Busam, Klaus J, Autuori, Isidora, Roy, Pampa, Reiner, Anne, Boyce, Tawny W, Cust, Anne E, Armstrong, Bruce K, Dwyer, Terence, Gallagher, Richard P, Marrett, Loraine D, Gruber, Stephen B, Bonner, Joseph D, Thomas, Nancy E, Conway, Kathleen, Ollila, David W, Groben, Pamela A, Edmiston, Sharon N, Hao, Honglin, Parrish, Eloise, Frank, Jill S, Gibbs, David C, Rebbeck, Timothy R, Kanetsky, Peter A, Taylor, Julia Lee, and Madronich, Sasha

Subjects
Data Management and Data Science, Information and Computing Sciences, Biomedical and Clinical Sciences, GEM Study Team
Published
2021

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

Author

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

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

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

Published
2021

18. Differences in Melanoma Between Canada and New South Wales, Australia: A Population-Based Genes, Environment, and Melanoma (GEM) Study

Author

Yardman-Frank, Joseph Michael, Glassheim, Elyssa, Kricker, Anne, Armstrong, Bruce K, Marrett, Loraine D, Luo, Li, Cust, Anne E, Busam, Klaus J, Orlow, Irene, Gallagher, Richard P, Gruber, Stephen B, Anton-Culver, Hoda, Rosso, Stefano, Zanetti, Roberto, Sacchetto, Lidia, Kanetsky, Peter A, Dwyer, Terence, Venn, Alison, Lee-Taylor, Julia, Begg, Colin B, Thomas, Nancy E, and Berwick, Marianne

Subjects
Climate Change Impacts and Adaptation, Biomedical and Clinical Sciences, Environmental Sciences, Health Sciences, Cancer
Abstract

In an effort to understand the difference between melanomas diagnosed in Australia (New South Wales) and Canada, where the incidence in New South Wales is almost three times greater than in Canada, and mortality is twice as high although survival is slightly more favorable, we had one pathologist review 1,271 melanomas from British Columbia and Ontario, Canada, to compare these to melanomas in New South Wales, Australia. We hypothesized that histopathologic characteristics might provide insight into divergent pathways to melanoma development. We found a number of differences in risk factors and tumor characteristics between the two geographic areas. There were higher mole counts and darker phenotypes in the Canadian patients, while the Australian patients had greater solar elastosis, more lentigo maligna melanomas, and more tumor infiltrating lymphocytes. We hypothesize that the differences observed may illustrate different etiologies – the cumulative exposure pathway among Australian patients and the nevus pathway among Canadian patients. This is one of the largest studies investigating the divergent pathway hypothesis and is particularly robust due to the evaluation of all lesions by one dermatopathologist.

Published
2021

19. 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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20. 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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21. Transformer-based biomarker prediction from colorectal cancer histology: A large-scale multicentric study

Author

Church, David, Domingo, Enric, Edwards, Joanne, Glimelius, Bengt, Gogenur, Ismail, Harkin, Andrea, Hay, Jen, Iveson, Timothy, Jaeger, Emma, Kelly, Caroline, Kerr, Rachel, Maka, Noori, Morgan, Hannah, Oien, Karin, Orange, Clare, Palles, Claire, Roxburgh, Campbell, Sansom, Owen, Saunders, Mark, Tomlinson, Ian, Wagner, Sophia J., Reisenbüchler, Daniel, West, Nicholas P., Niehues, Jan Moritz, Zhu, Jiefu, Foersch, Sebastian, Veldhuizen, Gregory Patrick, Quirke, Philip, Grabsch, Heike I., van den Brandt, Piet A., Hutchins, Gordon G.A., Richman, Susan D., Yuan, Tanwei, Langer, Rupert, Jenniskens, Josien C.A., Offermans, Kelly, Mueller, Wolfram, Gray, Richard, Gruber, Stephen B., Greenson, Joel K., Rennert, Gad, Bonner, Joseph D., Schmolze, Daniel, Jonnagaddala, Jitendra, Hawkins, Nicholas J., Ward, Robyn L., Morton, Dion, Seymour, Matthew, Magill, Laura, Nowak, Marta, Hay, Jennifer, Koelzer, Viktor H., Church, David N., Matek, Christian, Geppert, Carol, Peng, Chaolong, Zhi, Cheng, Ouyang, Xiaoming, James, Jacqueline A., Loughrey, Maurice B., Salto-Tellez, Manuel, Brenner, Hermann, Hoffmeister, Michael, Truhn, Daniel, Schnabel, Julia A., Boxberg, Melanie, Peng, Tingying, and Kather, Jakob Nikolas

Published
2023
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22. Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study

Author

Davari, Danielle R, Orlow, Irene, Kanetsky, Peter A, Luo, Li, Busam, Klaus J, Sharma, Ajay, Kricker, Anne, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Dwyer, Terence, Gibbs, David C, Ollila, David W, Begg, Colin B, Berwick, Marianne, and Thomas, Nancy E

Subjects
Genetics, Clinical Research, Human Genome, Cancer, Aetiology, 2.1 Biological and endogenous factors, Genome-Wide Association Study, Humans, Lymphocytes, Tumor-Infiltrating, Melanoma, Prognosis, Skin Neoplasms, melanoma, single nucleotide polymorphism, Breslow thickness, ulceration, mitoses, tumor-infiltrating lymphocytes, survival, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

Genome-wide association studies (GWAS) and candidate pathway studies have identified low-penetrant genetic variants associated with cutaneous melanoma. We investigated the association of melanoma-risk variants with primary melanoma tumor prognostic characteristics and melanoma-specific survival. The Genes, Environment, and Melanoma Study enrolled 3285 European origin participants with incident invasive primary melanoma. For each of 47 melanoma-risk single nucleotide polymorphisms (SNPs), we used linear and logistic regression modeling to estimate, respectively, the per allele mean changes in log of Breslow thickness and odds ratios for presence of ulceration, mitoses, and tumor-infiltrating lymphocytes (TILs). We also used Cox proportional hazards regression modeling to estimate the per allele hazard ratios for melanoma-specific survival. Passing the false discovery threshold (p = 0.0026) were associations of IRF4 rs12203592 and CCND1 rs1485993 with log of Breslow thickness, and association of TERT rs2242652 with presence of mitoses. IRF4 rs12203592 also had nominal associations (p < 0.05) with presence of mitoses and melanoma-specific survival, as well as a borderline association (p = 0.07) with ulceration. CCND1 rs1485993 also had a borderline association with presence of mitoses (p = 0.06). MX2 rs45430 had nominal associations with log of Breslow thickness, presence of mitoses, and melanoma-specific survival. Our study indicates that further research investigating the associations of these genetic variants with underlying biologic pathways related to tumor progression is warranted.

Published
2021

24. Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck

Author

Wood, Renee P, Heyworth, Jane S, McCarthy, Nina S, Mauguen, Audrey, Berwick, Marianne, Thomas, Nancy E, Millward, Michael J, Anton-Culver, Hoda, Cust, Anne E, Dwyer, Terence, Gallagher, Richard P, Gruber, Stephen B, Kanetsky, Peter A, Orlow, Irene, Rosso, Stefano, Moses, Eric K, Begg, Colin B, and Ward, Sarah V

Subjects
Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Dental/Oral and Craniofacial Disease, Clinical Trials and Supportive Activities, Cancer, Clinical Research, Aged, Female, Humans, Male, Melanoma, Middle Aged, Neck, Risk Factors, Scalp, Skin Neoplasms, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundScalp and neck (SN) melanoma confers a worse prognosis than melanoma of other sites but little is known about its determinants. We aimed to identify associations between SN melanoma and known risk genes, phenotypic traits, and sun exposure patterns.MethodsParticipants were cases from the Western Australian Melanoma Health Study (n = 1,200) and the Genes, Environment, and Melanoma Study (n = 3,280). Associations between risk factors and SN melanoma, compared with truncal and arm/leg melanoma, were investigated using binomial logistic regression. Facial melanoma was also compared with the trunk and extremities, to evaluate whether associations were subregion specific, or reflective of the whole head/neck region.ResultsCompared with other sites, increased odds of SN and facial melanoma were observed in older individuals [SN: OR = 1.28, 95% confidence interval (CI) = 0.92-1.80, P trend = 0.016; Face: OR = 4.57, 95% CI = 3.34-6.35, P trend < 0.001] and those carrying IRF4-rs12203592*T (SN: OR = 1.35, 95% CI = 1.12-1.63, P trend = 0.002; Face: OR = 1.29, 95% CI = 1.10-1.50, P trend = 0.001). Decreased odds were observed for females (SN: OR = 0.49, 95% CI = 0.37-0.64, P < 0.001; Face: OR = 0.66, 95% CI = 0.53-0.82, P < 0.001) and the presence of nevi (SN: OR = 0.66, 95% CI = 0.49-0.89, P = 0.006; Face: OR = 0.65, 95% CI = 0.52-0.83, P < 0.001).ConclusionsDifferences observed between SN melanoma and other sites were also observed for facial melanoma. Factors previously associated with the broader head and neck region, notably older age, may be driven by the facial subregion. A novel finding was the association of IRF4-rs12203592 with both SN and facial melanoma.ImpactUnderstanding the epidemiology of site-specific melanoma will enable tailored strategies for risk factor reduction and site-specific screening campaigns.

Published
2020

25. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.

Author

Zhang, Yan Dora, Hurson, Amber N, Zhang, Haoyu, Choudhury, Parichoy Pal, Easton, Douglas F, Milne, Roger L, Simard, Jacques, Hall, Per, Michailidou, Kyriaki, Dennis, Joe, Schmidt, Marjanka K, Chang-Claude, Jenny, Gharahkhani, Puya, Whiteman, David, Campbell, Peter T, Hoffmeister, Michael, Jenkins, Mark, Peters, Ulrike, Hsu, Li, Gruber, Stephen B, Casey, Graham, Schmit, Stephanie L, O'Mara, Tracy A, Spurdle, Amanda B, Thompson, Deborah J, Tomlinson, Ian, De Vivo, Immaculata, Landi, Maria Teresa, Law, Matthew H, Iles, Mark M, Demenais, Florence, Kumar, Rajiv, MacGregor, Stuart, Bishop, D Timothy, Ward, Sarah V, Bondy, Melissa L, Houlston, Richard, Wiencke, John K, Melin, Beatrice, Barnholtz-Sloan, Jill, Kinnersley, Ben, Wrensch, Margaret R, Amos, Christopher I, Hung, Rayjean J, Brennan, Paul, McKay, James, Caporaso, Neil E, Berndt, Sonja I, Birmann, Brenda M, Camp, Nicola J, Kraft, Peter, Rothman, Nathaniel, Slager, Susan L, Berchuck, Andrew, Pharoah, Paul DP, Sellers, Thomas A, Gayther, Simon A, Pearce, Celeste L, Goode, Ellen L, Schildkraut, Joellen M, Moysich, Kirsten B, Amundadottir, Laufey T, Jacobs, Eric J, Klein, Alison P, Petersen, Gloria M, Risch, Harvey A, Stolzenberg-Solomon, Rachel Z, Wolpin, Brian M, Li, Donghui, Eeles, Rosalind A, Haiman, Christopher A, Kote-Jarai, Zsofia, Schumacher, Fredrick R, Al Olama, Ali Amin, Purdue, Mark P, Scelo, Ghislaine, Dalgaard, Marlene D, Greene, Mark H, Grotmol, Tom, Kanetsky, Peter A, McGlynn, Katherine A, Nathanson, Katherine L, Turnbull, Clare, Wiklund, Fredrik, Breast Cancer Association Consortium (BCAC), Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON), Colon Cancer Family Registry (CCFR), Transdisciplinary Studies of Genetic Variation in Colorectal Cancer (CORECT), Endometrial Cancer Association Consortium (ECAC), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Melanoma Genetics Consortium (GenoMEL), Glioma International Case-Control Study (GICC), International Lung Cancer Consortium (ILCCO), Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Consortium, International Consortium of Investigators Working on Non-Hodgkin’s Lymphoma Epidemiologic Studies (InterLymph), Ovarian Cancer Association Consortium (OCAC), Oral Cancer GWAS, Pancreatic Cancer Case-Control Consortium (PanC4), Pancreatic Cancer Cohort Consortium (PanScan), and Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL)

Subjects
Breast Cancer Association Consortium, Barrett’s and Esophageal Adenocarcinoma Consortium, Colon Cancer Family Registry, Transdisciplinary Studies of Genetic Variation in Colorectal Cancer, Endometrial Cancer Association Consortium, Genetics and Epidemiology of Colorectal Cancer Consortium, Melanoma Genetics Consortium, Glioma International Case-Control Study, International Lung Cancer Consortium, Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Consortium, International Consortium of Investigators Working on Non-Hodgkin’s Lymphoma Epidemiologic Studies, Ovarian Cancer Association Consortium, Oral Cancer GWAS, Pancreatic Cancer Case-Control Consortium, Pancreatic Cancer Cohort Consortium, Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome, Renal Cancer GWAS, Testicular Cancer Consortium, Animals, Humans, Neoplasms, Genetic Predisposition to Disease, Incidence, Risk Assessment, Risk Factors, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Models, Genetic, Female, Male, Genome-Wide Association Study, Human Genome, Prevention, Cancer, Prostate Cancer, Genetics, Urologic Diseases, 2.1 Biological and endogenous factors
Abstract

Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across fourteen cancer sites to estimate the number of common susceptibility variants (polygenicity) and underlying effect-size distribution. All cancers show a high degree of polygenicity, involving at a minimum of thousands of loci. We project that sample sizes required to explain 80% of GWAS heritability vary from 60,000 cases for testicular to over 1,000,000 cases for lung cancer. The maximum relative risk achievable for subjects at the 99th risk percentile of underlying polygenic risk scores (PRS), compared to average risk, ranges from 12 for testicular to 2.5 for ovarian cancer. We show that PRS have potential for risk stratification for cancers of breast, colon and prostate, but less so for others because of modest heritability and lower incidence.

Published
2020

26. Functional informed genome‐wide interaction analysis of body mass index, diabetes and colorectal cancer risk

Author

Xia, Zhiyu, Su, Yu‐Ru, Petersen, Paneen, Qi, Lihong, Kim, Andre E, Figueiredo, Jane C, Lin, Yi, Nan, Hongmei, Sakoda, Lori C, Albanes, Demetrius, Berndt, Sonja I, Bézieau, Stéphane, Bien, Stephanie, Buchanan, Daniel D, Casey, Graham, Chan, Andrew T, Conti, David V, Drew, David A, Gallinger, Steven J, Gauderman, W James, Giles, Graham G, Gruber, Stephen B, Gunter, Marc J, Hoffmeister, Michael, Jenkins, Mark A, Joshi, Amit D, Le Marchand, Loic, Lewinger, Juan P, Li, Li, Lindor, Noralane M, Moreno, Victor, Murphy, Neil, Nassir, Rami, Newcomb, Polly A, Ogino, Shuji, Rennert, Gad, Song, Mingyang, Wang, Xiaoliang, Wolk, Alicja, Woods, Michael O, Brenner, Hermann, White, Emily, Slattery, Martha L, Giovannucci, Edward L, Chang‐Claude, Jenny, Pharoah, Paul DP, Hsu, Li, Campbell, Peter T, and Peters, Ulrike

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Digestive Diseases, Human Genome, Genetics, Cancer, Diabetes, Prevention, Nutrition, Colo-Rectal Cancer, Metabolic and endocrine, ATPases Associated with Diverse Cellular Activities, Aged, Body Mass Index, Colorectal Neoplasms, Databases, Genetic, Diabetes Mellitus, Type 2, Female, Gene Expression, Genotype, Hepatocyte Nuclear Factor 3-alpha, Humans, Male, Microtubule-Associated Proteins, Middle Aged, Obesity, Phenotype, Proteasome Endopeptidase Complex, Protein Tyrosine Phosphatase, Non-Receptor Type 2, Sex Factors, Sialic Acid Binding Ig-like Lectin 3, Voltage-Gated Sodium Channel beta-1 Subunit, BMI, colorectal cancer, diabetes, gene expression, gene-environmental interaction, Biochemistry and Cell Biology, Oncology and carcinogenesis
Abstract

BackgroundBody mass index (BMI) and diabetes are established risk factors for colorectal cancer (CRC), likely through perturbations in metabolic traits (e.g. insulin resistance and glucose homeostasis). Identification of interactions between variation in genes and these metabolic risk factors may identify novel biologic insights into CRC etiology.MethodsTo improve statistical power and interpretation for gene-environment interaction (G × E) testing, we tested genetic variants that regulate expression of a gene together for interaction with BMI (kg/m2 ) and diabetes on CRC risk among 26 017 cases and 20 692 controls. Each variant was weighted based on PrediXcan analysis of gene expression data from colon tissue generated in the Genotype-Tissue Expression Project for all genes with heritability ≥1%. We used a mixed-effects model to jointly measure the G × E interaction in a gene by partitioning the interactions into the predicted gene expression levels (fixed effects), and residual G × E effects (random effects). G × BMI analyses were stratified by sex as BMI-CRC associations differ by sex. We used false discovery rates to account for multiple comparisons and reported all results with FDR

Published
2020

27. MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

Author

Pellegrini, Cristina, Botta, Francesca, Massi, Daniela, Martorelli, Claudia, Facchetti, Fabio, Gandini, Sara, Maisonneuve, Patrick, Avril, Marie-Françoise, Demenais, Florence, Paillerets, Brigitte Bressac-de, Hoiom, Veronica, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Marrett, Loraine, Zanetti, Roberto, Dwyer, Terence, Thomas, Nancy E, Begg, Colin B, Berwick, Marianne, Puig, Susana, Potrony, Miriam, Nagore, Eduardo, Ghiorzo, Paola, Menin, Chiara, Manganoni, Ausilia Maria, Rodolfo, Monica, Brugnara, Sonia, Passoni, Emanuela, Sekulovic, Lidija Kandolf, Baldini, Federica, Guida, Gabriella, Stratigos, Alexandros, Ozdemir, Fezal, Ayala, Fabrizio, Fernandez-de-Misa, Ricardo, Quaglino, Pietro, Ribas, Gloria, Romanini, Antonella, Migliano, Emilia, Stanganelli, Ignazio, Kanetsky, Peter A, Pizzichetta, Maria Antonietta, García-Borrón, Jose Carlos, Nan, Hongmei, Landi, Maria Teresa, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, Fargnoli, Maria Concetta, Raimondi, Sara, Group, IMI Study, Alaibac, Mauro, Ferrari, Andrea, Valeri, Barbara, Sicher, Mariacristina, Mangiola, Daniela, Nazzaro, Gianluca, Tosti, Giulio, Mazzarol, Giovanni, Giudice, Giuseppe, Ribero, Simone, Astrua, Chiara, Mazzoni, Laura, Group, GEM Study, Orlow, Irene, Mujumdar, Urvi, Hummer, Amanda, Busam, Klaus, Roy, Pampa, Canchola, Rebecca, Clas, Brian, Cotignola, Javiar, Monroe, Yvette, Armstrong, Bruce, Kricker, Anne, Litchfield, Melisa, Tucker, Paul, Stephens, Nicola, Switzer, Teresa, Theis, Beth, From, Lynn, Chowdhury, Noori, Vanasse, Louise, Purdue, Mark, Northrup, David, Rosso, Stefano, Sacerdote, Carlotta, Leighton, Nancy, Gildea, Maureen, Bonner, Joe, Jeter, Joanne, Klotz, Judith, Wilcox, Homer, Weiss, Helen, Millikan, Robert, Mattingly, Dianne, and Player, Jon

Subjects
Clinical Research, Pediatric, Genetics, Prevention, Cancer, Adolescent, Adult, Aged, Biomarkers, Tumor, Case-Control Studies, Child, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Logistic Models, Male, Melanoma, Middle Aged, Odds Ratio, Polymorphism, Genetic, Receptor, Melanocortin, Type 1, Retrospective Studies, Skin Neoplasms, IMI Study Group, GEM Study Group, M-SKIP Study Group
Abstract

BackgroundGermline variants in the melanocortin 1 receptor gene (MC1R) might increase the risk of childhood and adolescent melanoma, but a clear conclusion is challenging because of the low number of studies and cases. We assessed the association of MC1R variants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1R variants in child or adolescent patients with melanoma to that in adult patients with melanoma and in healthy adult controls.MethodsIn this retrospective pooled analysis, we used the M-SKIP Project, the Italian Melanoma Intergroup, and other European groups (with participants from Australia, Canada, France, Greece, Italy, the Netherlands, Serbia, Spain, Sweden, Turkey, and the USA) to assemble an international multicentre cohort. We gathered phenotypic and genetic data from children or adolescents diagnosed with sporadic single-primary cutaneous melanoma at age 20 years or younger, adult patients with sporadic single-primary cutaneous melanoma diagnosed at age 35 years or older, and healthy adult individuals as controls. We calculated odds ratios (ORs) for childhood and adolescent melanoma associated with MC1R variants by multivariable logistic regression. Subgroup analysis was done for children aged 18 or younger and 14 years or younger.FindingsWe analysed data from 233 young patients, 932 adult patients, and 932 healthy adult controls. Children and adolescents had higher odds of carrying MC1R r variants than did adult patients (OR 1·54, 95% CI 1·02-2·33), including when analysis was restricted to patients aged 18 years or younger (1·80, 1·06-3·07). All investigated variants, except Arg160Trp, tended, to varying degrees, to have higher frequencies in young patients than in adult patients, with significantly higher frequencies found for Val60Leu (OR 1·60, 95% CI 1·05-2·44; p=0·04) and Asp294His (2·15, 1·05-4·40; p=0·04). Compared with those of healthy controls, young patients with melanoma had significantly higher frequencies of any MC1R variants.InterpretationOur pooled analysis of MC1R genetic data of young patients with melanoma showed that MC1R r variants were more prevalent in childhood and adolescent melanoma than in adult melanoma, especially in patients aged 18 years or younger. Our findings support the role of MC1R in childhood and adolescent melanoma susceptibility, with a potential clinical relevance for developing early melanoma detection and preventive strategies.FundingSPD-Pilot/Project-Award-2015; AIRC-MFAG-11831.

Published
2019

28. 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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29. Interactions between folate intake and genetic predictors of gene expression levels associated with colorectal cancer risk

Author

Haas, Cameron B., Su, Yu-Ru, Petersen, Paneen, Wang, Xiaoliang, Bien, Stephanie A., Lin, Yi, Albanes, Demetrius, Weinstein, Stephanie J., Jenkins, Mark A., Figueiredo, Jane C., Newcomb, Polly A., Casey, Graham, Le Marchand, Loic, Campbell, Peter T., Moreno, Victor, Potter, John D., Sakoda, Lori C., Slattery, Martha L., Chan, Andrew T., Li, Li, Giles, Graham G., Milne, Roger L., Gruber, Stephen B., Rennert, Gad, Woods, Michael O., Gallinger, Steven J., Berndt, Sonja, Hayes, Richard B., Huang, Wen-Yi, Wolk, Alicja, White, Emily, Nan, Hongmei, Nassir, Rami, Lindor, Noralane M., Lewinger, Juan P., Kim, Andre E., Conti, David, Gauderman, W. James, Buchanan, Daniel D., Peters, Ulrike, and Hsu, Li

Published
2022
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30. Differences in tumor-associated T-cell receptor repertoires between early-onset and average-onset colorectal cancer.

Author

Tsai, Ya-Yu, Nair, Kanika G, Barot, Shimoli V, Xiang, Shao, Kamath, Suneel, Melas, Marilena, Walker, Christopher P, Srivastava, Raghvendra M, Osborne, Nicole, Chan, Timothy A, Mitchem, Jonathan B, Bonner, Joseph D, McDonnell, Kevin J, Idos, Gregory E, Sanz-Pamplona, Rebeca, Greenson, Joel K, Rennert, Hedy S, Rennert, Gad, Moreno, Victor, and Gruber, Stephen B

Subjects
EPIDEMIOLOGY of cancer, COLORECTAL cancer, AGE of onset, MOLECULAR epidemiology, T cells
Abstract

The incidence of colorectal cancer (CRC) among individuals younger than age 50 (early-onset CRC [EOCRC]) has substantially increased, and yet the etiology and molecular mechanisms underlying this alarming rise remain unclear. We compared tumor-associated T-cell repertoires between EOCRC and average-onset CRC (AOCRC) to uncover potentially unique immune microenvironment-related features by age of onset. Our discovery cohort included 242 patients who underwent surgical resection at Cleveland Clinic from 2000 to 2020. EOCRC was defined as younger than age 50 years at diagnosis (N = 126) and AOCRC as 60 years of age or older (N = 116). T-cell receptor (TCR) abundance and clonality were measured by immunosequencing of tumors. Logistic regression models were used to evaluate the associations between TCR repertoire features and age of onset, adjusting for sex, race, tumor location, and stage. Findings were replicated in 152 EOCRC and 1984 AOCRC cases from the Molecular Epidemiology of Colorectal Cancer Study. EOCRC tumors had significantly higher TCR diversity compared with AOCRC tumors in the discovery cohort (odds ratio [OR] = 0.44, 95% confidence interval [CI] = 0.32 to 0.61, P  < .0001). This association was also observed in the replication cohort (OR = 0.74, 95% CI = 0.62 to 0.89, P  = .0013). No significant differences in TCR abundance were observed between EOCRC and AOCRC in either cohort. Higher TCR diversity, suggesting a more diverse intratumoral T-cell response, is more frequently observed in EOCRC than AOCRC. Further studies are warranted to investigate the role of T-cell diversity and the adaptive immune response more broadly in the etiology and outcomes of EOCRC. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes

Author

Thomas, Nancy E, Edmiston, Sharon N, Orlow, Irene, Kanetsky, Peter A, Luo, Li, Gibbs, David C, Parrish, Eloise A, Hao, Honglin, Busam, Klaus J, Armstrong, Bruce K, Kricker, Anne, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Dwyer, Terence, Ollila, David W, Begg, Colin B, Berwick, Marianne, Conway, Kathleen, Begg, Colin, Roy, Pampa, Reiner, Anne, Leong, Siok, Guerrero, Sergio Corrales, Sadeghi, Keimya, Boyce, Tawny W, Venn, Alison, Tucker, Paul, Marrett, Loraine D, From, Lynn, Huang, Shu-Chen, Groben, Pamela A, Parrish, Eloise, Frank, Jill S, Rebbeck, Timothy R, Taylor, Julia Lee, and Madronich, Sasha

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Human Genome, Cancer, Genetic Testing, Genetics, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Female, GTP Phosphohydrolases, Genetic Association Studies, Genotype, Group VI Phospholipases A2, Humans, Interferon Regulatory Factors, Male, Melanoma, Membrane Proteins, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Proto-Oncogene Proteins B-raf, Risk, Skin Neoplasms, GEM Study Group, Clinical Sciences, Dermatology & Venereal Diseases, Clinical sciences
Abstract

BRAF and NRAS mutations arise early in melanoma development, but their associations with low-penetrance melanoma susceptibility loci remain unknown. In the Genes, Environment and Melanoma Study, 1,223 European-origin participants had their incident invasive primary melanomas screened for BRAF/NRAS mutations and germline DNA genotyped for 47 single-nucleotide polymorphisms identified as low-penetrant melanoma-risk variants. We used multinomial logistic regression to simultaneously examine each single-nucleotide polymorphism's relationship to BRAF V600E, BRAF V600K, BRAF other, and NRAS+ relative to BRAF-/NRAS- melanoma adjusted for study features. IRF4 rs12203592*T was associated with BRAF V600E (odds ratio [OR] = 0.59, 95% confidence interval [CI] = 0.43-0.79) and V600K (OR = 0.65, 95% CI = 0.41-1.03), but not BRAF other or NRAS+ melanoma. A global test of etiologic heterogeneity (Pglobal = 0.001) passed false discovery (Pglobal = 0.0026). PLA2G6 rs132985*T was associated with BRAF V600E (OR = 1.32, 95% CI = 1.05-1.67) and BRAF other (OR = 1.82, 95% CI = 1.11-2.98), but not BRAF V600K or NRAS+ melanoma. The test for etiologic heterogeneity (Pglobal) was 0.005. The IRF4 rs12203592 associations were slightly attenuated after adjustment for melanoma-risk phenotypes. The PLA2G6 rs132985 associations were independent of phenotypes. IRF4 and PLA2G6 inherited genotypes may influence melanoma BRAF/NRAS subtype development.

Published
2018

32. A human MUTYH variant linking colonic polyposis to redox degradation of the [4Fe4S]2+ cluster

Author

McDonnell, Kevin J, Chemler, Joseph A, Bartels, Phillip L, O’Brien, Elizabeth, Marvin, Monica L, Ortega, Janice, Stern, Ralph H, Raskin, Leon, Li, Guo-Min, Sherman, David H, Barton, Jacqueline K, and Gruber, Stephen B

Subjects
Chemical Sciences, Colo-Rectal Cancer, Genetics, Digestive Diseases, Cancer, Generic health relevance, Adenomatous Polyposis Coli, Colonic Neoplasms, DNA Glycosylases, Genetic Variation, Humans, Iron-Sulfur Proteins, Mutation, Oxidation-Reduction, Organic Chemistry, Chemical sciences
Abstract

The human DNA repair enzyme MUTYH excises mispaired adenine residues in oxidized DNA. Homozygous MUTYH mutations underlie the autosomal, recessive cancer syndrome MUTYH-associated polyposis. We report a MUTYH variant, p.C306W (c.918C>G), with a tryptophan residue in place of native cysteine, that ligates the [4Fe4S] cluster in a patient with colonic polyposis and family history of early age colon cancer. In bacterial MutY, the [4Fe4S] cluster is redox active, allowing rapid localization to target lesions by long-range, DNA-mediated signalling. In the current study, using DNA electrochemistry, we determine that wild-type MUTYH is similarly redox-active, but MUTYH C306W undergoes rapid oxidative degradation of its cluster to [3Fe4S]+, with loss of redox signalling. In MUTYH C306W, oxidative cluster degradation leads to decreased DNA binding and enzyme function. This study confirms redox activity in eukaryotic DNA repair proteins and establishes MUTYH C306W as a pathogenic variant, highlighting the essential role of redox signalling by the [4Fe4S] cluster.

Published
2018

33. Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

Author

Neumeyer, Sonja, Banbury, Barbara L, Arndt, Volker, Berndt, Sonja I, Bezieau, Stephane, Bien, Stephanie A, Buchanan, Dan D, Butterbach, Katja, Caan, Bette J, Campbell, Peter T, Casey, Graham, Chan, Andrew T, Chanock, Stephen J, Dai, James Y, Gallinger, Steven, Giovannucci, Edward L, Giles, Graham G, Grady, William M, Hampe, Jochen, Hoffmeister, Michael, Hopper, John L, Hsu, Li, Jenkins, Mark A, Joshi, Amit, Larsson, Susanna C, Le Marchand, Loic, Lindblom, Annika, Moreno, Victor, Lemire, Mathieu, Li, Li, Lin, Yi, Offit, Kenneth, Newcomb, Polly A, Pharaoh, Paul D, Potter, John D, Qi, Lihong, Rennert, Gad, Schafmayer, Clemens, Schoen, Robert E, Slattery, Martha L, Song, Mingyang, Ulrich, Cornelia M, Win, Aung K, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Gruber, Stephen B, Brenner, Hermann, Peters, Ulrike, and Chang-Claude, Jenny

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Estrogen, Genetics, Contraception/Reproduction, Prevention, Clinical Research, Colo-Rectal Cancer, Digestive Diseases, Cancer, Aging, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Age Factors, Case-Control Studies, Colorectal Neoplasms, Female, Genetic Predisposition to Disease, Humans, Logistic Models, Menarche, Mendelian Randomization Analysis, Menopause, Polymorphism, Single Nucleotide, Registries, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundSubstantial evidence supports an association between use of menopausal hormone therapy and decreased colorectal cancer (CRC) risk, indicating a role of exogenous sex hormones in CRC development. However, findings on endogenous oestrogen exposure and CRC are inconsistent.MethodsWe used a Mendelian randomisation approach to test for a causal effect of age at menarche and age at menopause as surrogates for endogenous oestrogen exposure on CRC risk. Weighted genetic risk scores based on 358 single-nucleotide polymorphisms associated with age at menarche and 51 single-nucleotide polymorphisms associated with age at menopause were used to estimate the association with CRC risk using logistic regression in 12,944 women diagnosed with CRC and 10,741 women without CRC from three consortia. Sensitivity analyses were conducted to address pleiotropy and possible confounding by body mass index.ResultsGenetic risk scores for age at menarche (odds ratio per year 0.98, 95% confidence interval: 0.95-1.02) and age at menopause (odds ratio 0.98, 95% confidence interval: 0.94-1.01) were not significantly associated with CRC risk. The sensitivity analyses yielded similar results.ConclusionsOur study does not support a causal relationship between genetic risk scores for age at menarche and age at menopause and CRC risk.

Published
2018

34. The interaction between vitamin D receptor polymorphisms and sun exposure around time of diagnosis influences melanoma survival

Author

Orlow, Irene, Shi, Yang, Kanetsky, Peter A, Thomas, Nancy E, Luo, Li, Corrales‐Guerrero, Sergio, Cust, Anne E, Sacchetto, Lidia, Zanetti, Roberto, Rosso, Stefano, Armstrong, Bruce K, Dwyer, Terence, Venn, Alison, Gallagher, Richard P, Gruber, Stephen B, Marrett, Loraine D, Anton‐Culver, Hoda, Busam, Klaus, Begg, Colin B, Berwick, Marianne, and Group, the GEM Study

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Climate-Related Exposures and Conditions, Prevention, Nutrition, Genetics, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Male, Melanoma, Polymorphism, Single Nucleotide, Receptors, Calcitriol, Risk Factors, Sunlight, Survival Analysis, exposure, haplotype, interaction, melanoma, polymorphism, SNP, survival, UVB, vitamin D receptor, GEM Study Group, Biological Sciences, Medical and Health Sciences, Dermatology & Venereal Diseases, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

Evidence on the relationship between the vitamin D pathway and outcomes in melanoma is growing, although it is not always clear. We investigated the impact of measured levels of sun exposure at diagnosis on associations of vitamin D receptor gene (VDR) polymorphisms and melanoma death in 3336 incident primary melanoma cases. Interactions between six SNPs and a common 3'-end haplotype were significant (p

Published
2018

35. Associations of MC1R Genotype and Patient Phenotypes with BRAF and NRAS Mutations in Melanoma

Author

Thomas, Nancy E, Edmiston, Sharon N, Kanetsky, Peter A, Busam, Klaus J, Kricker, Anne, Armstrong, Bruce K, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Luo, Li, Orlow, Irene, Reiner, Anne S, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Dwyer, Terence, Parrish, Eloise A, Hao, Honglin, Gibbs, David C, Frank, Jill S, Ollila, David W, Begg, Colin B, Berwick, Marianne, Conway, Kathleen, Roy, Pampa, Patel, Himali, Paine, Susan, Venn, Alison, Tucker, Paul, Marrett, Loraine D, From, Lynn, Huang, Shu-Chen, Groben, Pamela A, Parrish, Eloise, Bramson, Jennifer I, Rebbeck, Timothy R, Taylor, Julia Lee, and Madronich, Sasha

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Genetics, Adult, Aged, Australia, Female, GTP Phosphohydrolases, Genotype, Humans, Male, Melanoma, Membrane Proteins, Middle Aged, Mutation, Phenotype, Proto-Oncogene Proteins B-raf, Receptor, Melanocortin, Type 1, Skin Neoplasms, United States, GEM Study Group, Clinical Sciences, Dermatology & Venereal Diseases, Clinical sciences
Abstract

Associations of MC1R with BRAF mutations in melanoma have been inconsistent between studies. We sought to determine for 1,227 participants in the international population-based Genes, Environment, and Melanoma (GEM) study whether MC1R and phenotypes were associated with melanoma BRAF/NRAS subtypes. We used logistic regression adjusted by age, sex, and study design features and examined effect modifications. BRAF+ were associated with younger age, blond/light brown hair, increased nevi, and less freckling, and NRAS+ with older age relative to the wild type (BRAF-/NRAS-) melanomas (all P < 0.05). Comparing specific BRAF subtypes to the wild type, BRAF V600E was associated with younger age, blond/light brown hair, and increased nevi and V600K with increased nevi and less freckling (all P < 0.05). MC1R was positively associated with BRAF V600E cases but only among individuals with darker phototypes or darker hair (Pinteraction < 0.05) but inversely associated with BRAF V600K (Ptrend = 0.006) with no significant effect modification by phenotypes. These results support distinct etiologies for BRAF V600E, BRAF V600K, NRAS+, and wild-type melanomas. MC1R's associations with BRAF V600E cases limited to individuals with darker phenotypes indicate that MC1R genotypes specifically provide information about BRAF V600E melanoma risk in those not considered high risk based on phenotype. Our results also suggest that melanin pathways deserve further study in BRAF V600E melanomagenesis.

Published
2017

37. 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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38. 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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39. 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

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2024
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40. 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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41. 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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42. 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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43. 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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44. 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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45. 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
Full Text
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46. 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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47. 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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48. 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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49. 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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50. Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects

Author

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

Published
2021
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