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27 results on '"Steinfelder, Robert S."'

1. 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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2. 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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3. Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival

Author

Labadie, Julia D, Savas, Sevtap, Harrison, Tabitha A, Banbury, Barb, Huang, Yuhan, Buchanan, Daniel D, Campbell, Peter T, Gallinger, Steven J, Giles, Graham G, Gunter, Marc J, Hoffmeister, Michael, Hsu, Li, Jenkins, Mark A, Lin, Yi, Ogino, Shuji, Phipps, Amanda I, Slattery, Martha L, Steinfelder, Robert S, Sun, Wei, Van Guelpen, Bethany, Hua, Xinwei, Figuieredo, Jane C, Pai, Rish K, Nassir, Rami, Qi, Lihong, Chan, Andrew T, Peters, Ulrike, and Newcomb, Polly A

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Oncology and Carcinogenesis, Human Genome, Cancer, Colo-Rectal Cancer, Prevention, Digestive Diseases, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Aged, 80 and over, Biomarkers, Tumor, Colorectal Neoplasms, Databases, Genetic, Female, Genetic Loci, Genome-Wide Association Study, Humans, Male, Middle Aged, Neoplasm Staging, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, Young Adult
Abstract

Identification of new genetic markers may improve the prediction of colorectal cancer prognosis. Our objective was to examine genome-wide associations of germline genetic variants with disease-specific survival in an analysis of 16,964 cases of colorectal cancer. We analyzed genotype and colorectal cancer-specific survival data from a consortium of 15 studies. Approximately 7.5 million SNPs were examined under the log-additive model using Cox proportional hazards models, adjusting for clinical factors and principal components. Additionally, we ran secondary analyses stratifying by tumor site and disease stage. We used a genome-wide p-value threshold of 5 × 10-8 to assess statistical significance. No variants were statistically significantly associated with disease-specific survival in the full case analysis or in the stage-stratified analyses. Three SNPs were statistically significantly associated with disease-specific survival for cases with tumors located in the distal colon (rs698022, HR = 1.48, CI 1.30-1.69, p = 8.47 × 10-9) and the proximal colon (rs189655236, HR = 2.14, 95% CI 1.65-2.77, p = 9.19 × 10-9 and rs144717887, HR = 2.01, 95% CI 1.57-2.58, p = 3.14 × 10-8), whereas no associations were detected for rectal tumors. Findings from this large genome-wide association study highlight the potential for anatomical-site-stratified genome-wide studies to identify germline genetic risk variants associated with colorectal cancer-specific survival. Larger sample sizes and further replication efforts are needed to more fully interpret these findings.

Published
2022

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

Author

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

Published
2023
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6. 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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7. Supplemental Table 2 from Epidemiologic Factors in Relation to Colorectal Cancer Risk and Survival by Genotoxic Colibactin Mutational Signature

Author

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

Published
2024
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8. 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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9. Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

Author

Georgeson, Peter, Harrison, Tabitha A., Pope, Bernard J., Zaidi, Syed H., Qu, Conghui, Steinfelder, Robert S., Lin, Yi, Joo, Jihoon E., Mahmood, Khalid, Clendenning, Mark, Walker, Romy, Amitay, Efrat L., Berndt, Sonja I., Brenner, Hermann, Campbell, Peter T., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Doheny, Kimberly F., Drew, David A., Figueiredo, Jane C., French, Amy J., Gallinger, Steven, Giannakis, Marios, Giles, Graham G., Gsur, Andrea, Gunter, Marc J., Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Limburg, Paul, Manson, JoAnn E., Moreno, Victor, Nassir, Rami, Nowak, Jonathan A., Obón-Santacana, Mireia, Ogino, Shuji, Phipps, Amanda I., Potter, John D., Schoen, Robert E., Sun, Wei, Toland, Amanda E., Trinh, Quang M., Ugai, Tomotaka, Macrae, Finlay A., Rosty, Christophe, Hudson, Thomas J., Jenkins, Mark A., Thibodeau, Stephen N., Winship, Ingrid M., Peters, Ulrike, and Buchanan, Daniel D.

Published
2022
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10. 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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11. Epidemiologic Factors in Relation to Colorectal Cancer Risk and Survival by Genotoxic Colibactin Mutational Signature

Author

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

Published
2024
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12. Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes

Author

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

Published
2023
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13. Supplementary Table S7 from Intake of Dietary Fruit, Vegetables, and Fiber and Risk of Colorectal Cancer According to Molecular Subtypes: A Pooled Analysis of 9 Studies

Author

Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Cao, Yin, primary, Sakoda, Lori C., primary, Barfield, Richard, primary, Giannakis, Marios, primary, Song, Mingyang, primary, Phipps, Amanda I., primary, Figueiredo, Jane C., primary, Zaidi, Syed H., primary, Toland, Amanda E., primary, Amitay, Efrat L., primary, Berndt, Sonja I., primary, Borozan, Ivan, primary, Chan, Andrew T., primary, Gallinger, Steven, primary, Gunter, Marc J., primary, Guinter, Mark A., primary, Harlid, Sophia, primary, Hampel, Heather, primary, Jenkins, Mark A., primary, Lin, Yi, primary, Moreno, Victor, primary, Newcomb, Polly A., primary, Nishihara, Reiko, primary, Ogino, Shuji, primary, Obón-Santacana, Mireia, primary, Parfrey, Patrick S., primary, Potter, John D., primary, Slattery, Martha L., primary, Steinfelder, Robert S., primary, Um, Caroline Y., primary, Wang, Xiaoliang, primary, Woods, Michael O., primary, Van Guelpen, Bethany, primary, Thibodeau, Stephen N., primary, Hoffmeister, Michael, primary, Sun, Wei, primary, Hsu, Li, primary, Buchanan, Daniel D., primary, Campbell, Peter T., primary, and Peters, Ulrike, primary

Published
2023
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14. Supplementary Text from Intake of Dietary Fruit, Vegetables, and Fiber and Risk of Colorectal Cancer According to Molecular Subtypes: A Pooled Analysis of 9 Studies

Author

Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Cao, Yin, primary, Sakoda, Lori C., primary, Barfield, Richard, primary, Giannakis, Marios, primary, Song, Mingyang, primary, Phipps, Amanda I., primary, Figueiredo, Jane C., primary, Zaidi, Syed H., primary, Toland, Amanda E., primary, Amitay, Efrat L., primary, Berndt, Sonja I., primary, Borozan, Ivan, primary, Chan, Andrew T., primary, Gallinger, Steven, primary, Gunter, Marc J., primary, Guinter, Mark A., primary, Harlid, Sophia, primary, Hampel, Heather, primary, Jenkins, Mark A., primary, Lin, Yi, primary, Moreno, Victor, primary, Newcomb, Polly A., primary, Nishihara, Reiko, primary, Ogino, Shuji, primary, Obón-Santacana, Mireia, primary, Parfrey, Patrick S., primary, Potter, John D., primary, Slattery, Martha L., primary, Steinfelder, Robert S., primary, Um, Caroline Y., primary, Wang, Xiaoliang, primary, Woods, Michael O., primary, Van Guelpen, Bethany, primary, Thibodeau, Stephen N., primary, Hoffmeister, Michael, primary, Sun, Wei, primary, Hsu, Li, primary, Buchanan, Daniel D., primary, Campbell, Peter T., primary, and Peters, Ulrike, primary

Published
2023
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15. Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival

Author

Georgeson, Peter, primary, Steinfelder, Robert S., additional, Harrison, Tabitha A., additional, Pope, Bernard J., additional, Zaidi, Syed H., additional, Qu, Conghui, additional, Lin, Yi, additional, Joo, Jihoon E., additional, Mahmood, Khalid, additional, Clendenning, Mark, additional, Walker, Romy, additional, Aglago, Elom K, additional, Berndt, Sonja I., additional, Brenner, Hermann, additional, Campbell, Peter T., additional, Cao, Yin, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Dimou, Niki, additional, Doheny, Kimberly F., additional, Drew, David A., additional, Figueiredo, Jane C., additional, French, Amy J., additional, Gallinger, Steven, additional, Giannakis, Marios, additional, Giles, Graham G., additional, Goode, Ellen L, additional, Gruber, Stephen B, additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Harlid, Sophia, additional, Hoffmeister, Michael, additional, Hsu, Li, additional, Huang, Wen-Yi, additional, Huyghe, Jeroen R, additional, Manson, JoAnn E., additional, Moreno, Victor, additional, Murphy, Neil, additional, Nassir, Rami, additional, Newton, Christina C., additional, Nowak, Jonathan A., additional, Obón-Santacana, Mireia, additional, Ogino, Shuji, additional, Pai, Rish K., additional, Papadimitrou, Nikos, additional, Potter, John D., additional, Schoen, Robert E., additional, Song, Mingyang, additional, Sun, Wei, additional, Toland, Amanda E., additional, Trinh, Quang M., additional, Tsilidis, Kostas, additional, Ugai, Tomotaka, additional, Um, Caroline Y, additional, Macrae, Finlay A., additional, Rosty, Christophe, additional, Hudson, Thomas J., additional, Winship, Ingrid M., additional, Phipps, Amanda I., additional, Jenkins, Mark A., additional, Peters, Ulrike, additional, and Buchanan, Daniel D., additional

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

Author

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

Published
2023
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17. Abstract PR008: Evaluation of intra-tumoral pathogenic bacteria pks+ E. coli, enterotoxigenic B. fragilis and fusobacterium nucleatum in 3695 colorectal cancer cases

Author

Hullar, Meredith A. J., primary, Curtis, Keith R., additional, Harrison, Tabitha A., additional, Lin, Yi, additional, Steinfelder, Robert S., additional, Berndt, Sonja I., additional, Buchanan, Daniel D., additional, Chan, Andrew T., additional, Drew, David, additional, Figueiredo, Jane C., additional, French, Amy J., additional, Goode, Ellen L., additional, Jenkins, Mark A., additional, Melaku, Yohannes A., additional, Moreno, Victor, additional, Ogino, Shuji, additional, Thibideau, Stephen N., additional, Phipps, Amanda I., additional, and Peters, Ulrike, additional

Published
2022
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18. Body mass index and molecular subtypes of colorectal cancer

Author

Murphy, Neil, primary, Newton, Christina C, additional, Song, Mingyang, additional, Papadimitriou, Nikos, additional, Hoffmeister, Michael, additional, Phipps, Amanda I, additional, Harrison, Tabitha A, additional, Newcomb, Polly A, additional, Aglago, Elom K, additional, Berndt, Sonja I, additional, Brenner, Hermann, additional, Buchanan, Daniel D, additional, Cao, Yin, additional, Chan, Andrew T, additional, Chen, Xuechen, additional, Cheng, Iona, additional, Chang-Claude, Jenny, additional, Dimou, Niki, additional, Drew, David, additional, Farris, Alton B, additional, French, Amy J, additional, Gallinger, Steven, additional, Georgeson, Peter, additional, Giannakis, Marios, additional, Giles, Graham G, additional, Gruber, Stephen B, additional, Harlid, Sophia, additional, Hsu, Li, additional, Huang, Wen-Yi, additional, Jenkins, Mark A, additional, Laskar, Ruhina S, additional, Le Marchand, Loic, additional, Limburg, Paul, additional, Lin, Yi, additional, Mandic, Marko, additional, Nowak, Johnathan A, additional, Obón-Santacana, Mereia, additional, Ogino, Shuji, additional, Qu, Conghui, additional, Sakoda, Lori C, additional, Schoen, Robert E, additional, Southey, Melissa C, additional, Stadler, Zsofia K, additional, Steinfelder, Robert S, additional, Sun, Wei, additional, Thibodeau, Stephen N, additional, Toland, Amanda E, additional, Trinh, Quang M, additional, Tsilidis, Kostas K, additional, Ugai, Tomotaka, additional, Van Guelpen, Bethany, additional, Wang, Xiaoliang, additional, Woods, Michael O, additional, Zaidi, Syed H, additional, Gunter, Marc J, additional, Peters, Ulrike, additional, and Campbell, Peter T, additional

Published
2022
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19. Diabetes mellitus in relation to colorectal tumor molecular subtypes: A pooled analysis of more than 9000 cases

Author

Harlid, Sophia, primary, Van Guelpen, Bethany, additional, Qu, Conghui, additional, Gylling, Björn, additional, Aglago, Elom K., additional, Amitay, Efrat L., additional, Brenner, Hermann, additional, Buchanan, Daniel D., additional, Campbell, Peter T., additional, Cao, Yin, additional, Chan, Andrew T., additional, Chang‐Claude, Jenny, additional, Drew, David A., additional, Figueiredo, Jane C., additional, French, Amy J., additional, Gallinger, Steven, additional, Giannakis, Marios, additional, Giles, Graham G., additional, Gunter, Marc J., additional, Hoffmeister, Michael, additional, Hsu, Li, additional, Jenkins, Mark A., additional, Lin, Yi, additional, Moreno, Victor, additional, Murphy, Neil, additional, Newcomb, Polly A., additional, Newton, Christina C., additional, Nowak, Jonathan A., additional, Obón‐Santacana, Mireia, additional, Ogino, Shuji, additional, Potter, John D., additional, Song, Mingyang, additional, Steinfelder, Robert S., additional, Sun, Wei, additional, Thibodeau, Stephen N., additional, Toland, Amanda E., additional, Ugai, Tomotaka, additional, Um, Caroline Y., additional, Woods, Michael O., additional, Phipps, Amanda I., additional, Harrison, Tabitha, additional, and Peters, Ulrike, additional

Published
2022
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20. Genetic Regulation of DNA Methylation Yields Novel Discoveries in GWAS of Colorectal Cancer

Author

Barfield, Richard, primary, Huyghe, Jeroen R., additional, Lemire, Mathieu, additional, Dong, Xinyuan, additional, Su, Yu-Ru, additional, Brezina, Stefanie, additional, Buchanan, Daniel D., additional, Figueiredo, Jane C., additional, Gallinger, Steven, additional, Giannakis, Marios, additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Hampel, Heather, additional, Harrison, Tabitha A., additional, Hopper, John L., additional, Hudson, Thomas J., additional, Li, Christopher I., additional, Moreno, Victor, additional, Newcomb, Polly A., additional, Pai, Rish K., additional, Pharoah, Paul D.P., additional, Phipps, Amanda I., additional, Qu, Conghui, additional, Steinfelder, Robert S., additional, Sun, Wei, additional, Win, Aung Ko, additional, Zaidi, Syed H., additional, Campbell, Peter T., additional, Peters, Ulrike, additional, and Hsu, Li, additional

Published
2022
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21. Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis

Author

Borozan, Ivan, primary, Zaidi, Syed H., additional, Harrison, Tabitha A., additional, Phipps, Amanda I., additional, Zheng, Jiayin, additional, Lee, Stephen, additional, Trinh, Quang M., additional, Steinfelder, Robert S., additional, Adams, Jeremy, additional, Banbury, Barbara L., additional, Berndt, Sonja I., additional, Brezina, Stefanie, additional, Buchanan, Daniel D., additional, Bullman, Susan, additional, Cao, Yin, additional, Farris, Alton B., additional, Figueiredo, Jane C., additional, Giannakis, Marios, additional, Heisler, Lawrence E., additional, Hopper, John L., additional, Lin, Yi, additional, Luo, Xuemei, additional, Nishihara, Reiko, additional, Mardis, Elaine R., additional, Papadopoulos, Nickolas, additional, Qu, Conghui, additional, Reid, Emma E.G., additional, Thibodeau, Stephen N., additional, Harlid, Sophia, additional, Um, Caroline Y., additional, Hsu, Li, additional, Gsur, Andrea, additional, Campbell, Peter T., additional, Gallinger, Steven, additional, Newcomb, Polly A., additional, Ogino, Shuji, additional, Sun, Wei, additional, Hudson, Thomas J., additional, Ferretti, Vincent, additional, and Peters, Ulrike, additional

Published
2022
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22. Abstract LB090: Associations of somatically mutated genes and pathways with colorectal cancer specific survival in 4,500 colorectal cancer patients

Author

Harrison, Tabitha A., primary, Zaidi, Syed H., additional, Qu, Conghui, additional, Phipps, Amanda I., additional, Steinfelder, Robert S., additional, Trinh, Quang M., additional, Berndt, Sonja I., additional, Buchanan, Daniel D., additional, Campbell, Peter T., additional, Chan, Andrew T., additional, Doheny, Kim F., additional, Drew, David A., additional, Figueiredo, Jane C., additional, Gallinger, Steven J., additional, Giannakis, Marios, additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Hoffmeister, Michael, additional, Huang, Wen-Yi, additional, Limburg, Paul J., additional, Moreno, Victor, additional, Newcomb, Polly A., additional, Ogino, Shuji, additional, Prentice, Ross L., additional, Shelford, Tameka, additional, Sun, Wei, additional, Thibodeau, Stephen N., additional, Hsu, Li, additional, and Peters, Ulrike, additional

Published
2021
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23. Intake of Dietary Fruit, Vegetables, and Fiber and Risk of Colorectal Cancer According to Molecular Subtypes: A Pooled Analysis of 9 Studies

Author

Hidaka, Akihisa, primary, Harrison, Tabitha A., additional, Cao, Yin, additional, Sakoda, Lori C., additional, Barfield, Richard, additional, Giannakis, Marios, additional, Song, Mingyang, additional, Phipps, Amanda I., additional, Figueiredo, Jane C., additional, Zaidi, Syed H., additional, Toland, Amanda E., additional, Amitay, Efrat L., additional, Berndt, Sonja I., additional, Borozan, Ivan, additional, Chan, Andrew T., additional, Gallinger, Steven, additional, Gunter, Marc J., additional, Guinter, Mark A., additional, Harlid, Sophia, additional, Hampel, Heather, additional, Jenkins, Mark A., additional, Lin, Yi, additional, Moreno, Victor, additional, Newcomb, Polly A., additional, Nishihara, Reiko, additional, Ogino, Shuji, additional, Obón-Santacana, Mireia, additional, Parfrey, Patrick S., additional, Potter, John D., additional, Slattery, Martha L., additional, Steinfelder, Robert S., additional, Um, Caroline Y., additional, Wang, Xiaoliang, additional, Woods, Michael O., additional, Van Guelpen, Bethany, additional, Thibodeau, Stephen N., additional, Hoffmeister, Michael, additional, Sun, Wei, additional, Hsu, Li, additional, Buchanan, Daniel D., additional, Campbell, Peter T., additional, and Peters, Ulrike, additional

Published
2020
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24. Abstract 1598: Deep targeted sequencing of colorectal cancer cases to study associations of molecular subtypes with clinical, genetic, and lifestyle risk factors

Author

Zaidi, Syed H., primary, Phipps, Amanda I., additional, Harrison, Tabitha A., additional, Steinfelder, Robert S., additional, Trinh, Quang, additional, Banbury, Barbara L., additional, Rafikova, Adilya, additional, Tassel, Megan Van, additional, Reid, Emma, additional, Brezina, Stefanie, additional, Giannakis, Marios, additional, Fuchs, Charles S., additional, Hsu, Li, additional, Gsur, Andrea, additional, Ogino, Shuji, additional, Gallinger, Steven, additional, Newcomb, Polly A., additional, Campbell, Peter T., additional, Sun, Wei, additional, Hudson, Thomas J., additional, and Peters, Ulrike, additional

Published
2019
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25. Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.

Author

Georgeson P, Steinfelder RS, Harrison TA, Pope BJ, Zaidi SH, Qu C, Lin Y, Joo JE, Mahmood K, Clendenning M, Walker R, Aglago EK, Berndt SI, Brenner H, Campbell PT, Cao Y, Chan AT, Chang-Claude J, Dimou N, Doheny KF, Drew DA, Figueiredo JC, French AJ, Gallinger S, Giannakis M, Giles GG, Goode EL, Gruber SB, Gsur A, Gunter MJ, Harlid S, Hoffmeister M, Hsu L, Huang WY, Huyghe JR, Manson JE, Moreno V, Murphy N, Nassir R, Newton CC, Nowak JA, Obón-Santacana M, Ogino S, Pai RK, Papadimitrou N, Potter JD, Schoen RE, Song M, Sun W, Toland AE, Trinh QM, Tsilidis K, Ugai T, Um CY, Macrae FA, Rosty C, Hudson TJ, Winship IM, Phipps AI, Jenkins MA, Peters U, and Buchanan DD

Abstract

Background and Aims: The microbiome has long been suspected of a role in colorectal cancer (CRC) tumorigenesis. The mutational signature SBS88 mechanistically links CRC development with the strain of Escherichia coli harboring the pks island that produces the genotoxin colibactin, but the genomic, pathological and survival characteristics associated with SBS88-positive tumors are unknown., Methods: SBS88-positive CRCs were identified from targeted sequencing data from 5,292 CRCs from 17 studies and tested for their association with clinico-pathological features, oncogenic pathways, genomic characteristics and survival., Results: In total, 7.5% (398/5,292) of the CRCs were SBS88-positive, of which 98.7% (392/398) were microsatellite stable/microsatellite instability low (MSS/MSI-L), compared with 80% (3916/4894) of SBS88 negative tumors (p=1.5x10 -28 ). Analysis of MSS/MSI-L CRCs demonstrated that SBS88 positive CRCs were associated with the distal colon (OR=1.84, 95% CI=1.40-2.42, p=1x10 -5 ) and rectum (OR=1.90, 95% CI=1.44-2.51, p=6x10 -6 ) tumor sites compared with the proximal colon. The top seven recurrent somatic mutations associated with SBS88-positive CRCs demonstrated mutational contexts associated with colibactin-induced DNA damage, the strongest of which was the APC :c.835-8A>G mutation (OR=65.5, 95%CI=39.0-110.0, p=3x10 -80 ). Large copy number alterations (CNAs) including CNA loss on 14q and gains on 13q, 16q and 20p were significantly enriched in SBS88-positive CRCs. SBS88-positive CRCs were associated with better CRC-specific survival (p=0.007; hazard ratio of 0.69, 95% CI=0.52-0.90) when stratified by age, sex, study, and by stage., Conclusion: SBS88-positivity, a biomarker of colibactin-induced DNA damage, can identify a novel subtype of CRC characterized by recurrent somatic mutations, copy number alterations and better survival. These findings provide new insights for treatment and prevention strategies for this subtype of CRC., Competing Interests: Competing Interests Dr. Marios Giannakis received research funding from Servier and Janssen, unrelated to this study. Dr. Stephen B Gruber co-founded Brogent International LLC, unrelated to this study. Dr. Jonathan A. Nowak received research support from Akoya Biosciences, Illumina, and NanoString, unrelated to this study. Dr. Rish K. Pai received consultant income from Alimentiv Inc., Allergan, Eli Lilly, and AbbVie, unrelated to this study. Dr. Robert E. Schoen received research support from Freenome, Immunovia, and Exact Sciences, unrelated to this study. All other authors declare no competing interests.

Published
2024
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26. Body mass index and molecular subtypes of colorectal cancer.

Author

Murphy N, Newton CC, Song M, Papadimitriou N, Hoffmeister M, Phipps AI, Harrison TA, Newcomb PA, Aglago EK, Berndt SI, Brenner H, Buchanan DD, Cao Y, Chan AT, Chen X, Cheng I, Chang-Claude J, Dimou N, Drew D, Farris AB, French AJ, Gallinger S, Georgeson P, Giannakis M, Giles GG, Gruber SB, Harlid S, Hsu L, Huang WY, Jenkins MA, Laskar RS, Le Marchand L, Limburg P, Lin Y, Mandic M, Nowak JA, Obón-Santacana M, Ogino S, Qu C, Sakoda LC, Schoen RE, Southey MC, Stadler ZK, Steinfelder RS, Sun W, Thibodeau SN, Toland AE, Trinh QM, Tsilidis KK, Ugai T, Van Guelpen B, Wang X, Woods MO, Zaidi SH, Gunter MJ, Peters U, and Campbell PT

Subjects
Humans, Female, Body Mass Index, Proto-Oncogene Proteins B-raf genetics, Microsatellite Instability, Proto-Oncogene Proteins p21(ras) genetics, Risk Factors, Obesity complications, CpG Islands, DNA Methylation, Mutation, Colorectal Neoplasms, Hereditary Nonpolyposis complications, Colorectal Neoplasms pathology
Abstract

Background: Obesity is an established risk factor for colorectal cancer (CRC), but the evidence for the association is inconsistent across molecular subtypes of the disease., Methods: We pooled data on body mass index (BMI), tumor microsatellite instability status, CpG island methylator phenotype status, BRAF and KRAS mutations, and Jass classification types for 11 872 CRC cases and 11 013 controls from 11 observational studies. We used multinomial logistic regression to estimate odds ratios (OR) and 95% confidence intervals (CI) adjusted for covariables., Results: Higher BMI was associated with increased CRC risk (OR per 5 kg/m2 = 1.18, 95% CI = 1.15 to 1.22). The positive association was stronger for men than women but similar across tumor subtypes defined by individual molecular markers. In analyses by Jass type, higher BMI was associated with elevated CRC risk for types 1-4 cases but not for type 5 CRC cases (considered familial-like/Lynch syndrome microsatellite instability-H, CpG island methylator phenotype-low or negative, BRAF-wild type, KRAS-wild type, OR = 1.04, 95% CI = 0.90 to 1.20). This pattern of associations for BMI and Jass types was consistent by sex and design of contributing studies (cohort or case-control)., Conclusions: In contrast to previous reports with fewer study participants, we found limited evidence of heterogeneity for the association between BMI and CRC risk according to molecular subtype, suggesting that obesity influences nearly all major pathways involved in colorectal carcinogenesis. The null association observed for the Jass type 5 suggests that BMI is not a risk factor for the development of CRC for individuals with Lynch syndrome., (© The Author(s) 2022. Published by Oxford University Press.)

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

Author

Thomas M, Su YR, Rosenthal EA, Sakoda LC, Schmit SL, Timofeeva MN, Chen Z, Fernandez-Rozadilla C, Law PJ, Murphy N, Carreras-Torres R, Diez-Obrero V, van Duijnhoven FJ, Jiang S, Shin A, Wolk A, Phipps AI, Burnett-Hartman A, Gsur A, Chan AT, Zauber AG, Wu AH, Lindblom A, Um CY, Tangen CM, Gignoux C, Newton C, Haiman CA, Qu C, Bishop DT, Buchanan DD, Crosslin DR, Conti DV, Kim DH, Hauser E, White E, Siegel E, Schumacher FR, Rennert G, Giles GG, Hampel H, Brenner H, Oze I, Oh JH, Lee JK, Schneider JL, Chang-Claude J, Kim J, Huyghe JR, Zheng J, Hampe J, Greenson J, Hopper JL, Palmer JR, Visvanathan K, Matsuo K, Matsuda K, Jung KJ, Li L, Marchand LL, Vodickova L, Bujanda L, Gunter MJ, Matejcic M, Jenkins MA, Slattery ML, D'Amato M, Wang M, Hoffmeister M, Woods MO, Kim M, Song M, Iwasaki M, Du M, Udaltsova N, Sawada N, Vodicka P, Campbell PT, Newcomb PA, Cai Q, Pearlman R, Pai RK, Schoen RE, Steinfelder RS, Haile RW, Vandenputtelaar R, Prentice RL, Küry S, Castellví-Bel S, Tsugane S, Berndt SI, Lee SC, Brezina S, Weinstein SJ, Chanock SJ, Jee SH, Kweon SS, Vadaparampil S, Harrison TA, Yamaji T, Keku TO, Vymetalkova V, Arndt V, Jia WH, Shu XO, Lin Y, Ahn YO, Stadler ZK, Van Guelpen B, Ulrich CM, Platz EA, Potter JD, Li CI, Meester R, Moreno V, Figueiredo JC, Casey G, Vogelaar IL, Dunlop MG, Gruber SB, Hayes RB, Pharoah PDP, Houlston RS, Jarvik GP, Tomlinson IP, Zheng W, Corley DA, Peters U, and Hsu L

Abstract

Polygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European ancestry data have sub-optimal performance in non-European ancestry populations, limiting their utility among these populations. Towards addressing this deficiency, we expanded PRS development for CRC by incorporating Asian ancestry data (21,731 cases; 47,444 controls) into European ancestry training datasets (78,473 cases; 107,143 controls). The AUC estimates (95% CI) of PRS were 0.63(0.62-0.64), 0.59(0.57-0.61), 0.62(0.60-0.63), and 0.65(0.63-0.66) in independent datasets including 1,681-3,651 cases and 8,696-115,105 controls of Asian, Black/African American, Latinx/Hispanic, and non-Hispanic White, respectively. They were significantly better than the European-centric PRS in all four major US racial and ethnic groups (p-values<0.05). Further inclusion of non-European ancestry populations, especially Black/African American and Latinx/Hispanic, is needed to improve the risk prediction and enhance equity in applying PRS in clinical practice.

Published
2023
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