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1. Design and methodological considerations for biomarker discovery and validation in the Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Program

Author: Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, Hung, Rayjean J., Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, and Hung, Rayjean J.
Abstract: The Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) program is an NCI-funded initiative with an objective to develop tools to optimize low-dose CT (LDCT) lung cancer screening. Here, we describe the rationale and design for the Risk Biomarker and Nodule Malignancy projects within INTEGRAL. The overarching goal of these projects is to systematically investigate circulating protein markers to include on a panel for use (i) pre-LDCT, to identify people likely to benefit from screening, and (ii) post-LDCT, to differentiate benign versus malignant nodules. To identify informative proteins, the Risk Biomarker project measured 1161 proteins in a nested-case control study within 2 prospective cohorts (n = 252 lung cancer cases and 252 controls) and replicated associations for a subset of proteins in 4 cohorts (n = 479 cases and 479 controls). Eligible participants had a current or former history of smoking and cases were diagnosed up to 3 years following blood draw. The Nodule Malignancy project measured 1078 proteins among participants with a heavy smoking history within four LDCT screening studies (n = 425 cases diagnosed up to 5 years following blood draw, 430 benign-nodule controls, and 398 nodule-free controls). The INTEGRAL panel will enable absolute quantification of 21 proteins. We will evaluate its performance in the Risk Biomarker project using a case-cohort study including 14 cohorts (n = 1696 cases and 2926 subcohort representatives), and in the Nodule Malignancy project within five LDCT screening studies (n = 675 cases, 680 benign-nodule controls, and 648 nodule-free controls). Future progress to advance lung cancer early detection biomarkers will require carefully designed validation, translational, and comparative studies.
Published: 2023
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2. Design and methodological considerations for biomarker discovery and validation in the Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Program

Author: Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, Hung, Rayjean J., Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, and Hung, Rayjean J.
Abstract: The Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) program is an NCI-funded initiative with an objective to develop tools to optimize low-dose CT (LDCT) lung cancer screening. Here, we describe the rationale and design for the Risk Biomarker and Nodule Malignancy projects within INTEGRAL. The overarching goal of these projects is to systematically investigate circulating protein markers to include on a panel for use (i) pre-LDCT, to identify people likely to benefit from screening, and (ii) post-LDCT, to differentiate benign versus malignant nodules. To identify informative proteins, the Risk Biomarker project measured 1161 proteins in a nested-case control study within 2 prospective cohorts (n = 252 lung cancer cases and 252 controls) and replicated associations for a subset of proteins in 4 cohorts (n = 479 cases and 479 controls). Eligible participants had a current or former history of smoking and cases were diagnosed up to 3 years following blood draw. The Nodule Malignancy project measured 1078 proteins among participants with a heavy smoking history within four LDCT screening studies (n = 425 cases diagnosed up to 5 years following blood draw, 430 benign-nodule controls, and 398 nodule-free controls). The INTEGRAL panel will enable absolute quantification of 21 proteins. We will evaluate its performance in the Risk Biomarker project using a case-cohort study including 14 cohorts (n = 1696 cases and 2926 subcohort representatives), and in the Nodule Malignancy project within five LDCT screening studies (n = 675 cases, 680 benign-nodule controls, and 648 nodule-free controls). Future progress to advance lung cancer early detection biomarkers will require carefully designed validation, translational, and comparative studies.
Published: 2023
Full Text: View/download PDF

3. Design and methodological considerations for biomarker discovery and validation in the Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Program

Author: Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, Hung, Rayjean J., Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, and Hung, Rayjean J.
Abstract: The Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) program is an NCI-funded initiative with an objective to develop tools to optimize low-dose CT (LDCT) lung cancer screening. Here, we describe the rationale and design for the Risk Biomarker and Nodule Malignancy projects within INTEGRAL. The overarching goal of these projects is to systematically investigate circulating protein markers to include on a panel for use (i) pre-LDCT, to identify people likely to benefit from screening, and (ii) post-LDCT, to differentiate benign versus malignant nodules. To identify informative proteins, the Risk Biomarker project measured 1161 proteins in a nested-case control study within 2 prospective cohorts (n = 252 lung cancer cases and 252 controls) and replicated associations for a subset of proteins in 4 cohorts (n = 479 cases and 479 controls). Eligible participants had a current or former history of smoking and cases were diagnosed up to 3 years following blood draw. The Nodule Malignancy project measured 1078 proteins among participants with a heavy smoking history within four LDCT screening studies (n = 425 cases diagnosed up to 5 years following blood draw, 430 benign-nodule controls, and 398 nodule-free controls). The INTEGRAL panel will enable absolute quantification of 21 proteins. We will evaluate its performance in the Risk Biomarker project using a case-cohort study including 14 cohorts (n = 1696 cases and 2926 subcohort representatives), and in the Nodule Malignancy project within five LDCT screening studies (n = 675 cases, 680 benign-nodule controls, and 648 nodule-free controls). Future progress to advance lung cancer early detection biomarkers will require carefully designed validation, translational, and comparative studies.
Published: 2023
Full Text: View/download PDF

4. Design and methodological considerations for biomarker discovery and validation in the Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Program

Author: Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, Hung, Rayjean J., Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, and Hung, Rayjean J.
Abstract: The Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) program is an NCI-funded initiative with an objective to develop tools to optimize low-dose CT (LDCT) lung cancer screening. Here, we describe the rationale and design for the Risk Biomarker and Nodule Malignancy projects within INTEGRAL. The overarching goal of these projects is to systematically investigate circulating protein markers to include on a panel for use (i) pre-LDCT, to identify people likely to benefit from screening, and (ii) post-LDCT, to differentiate benign versus malignant nodules. To identify informative proteins, the Risk Biomarker project measured 1161 proteins in a nested-case control study within 2 prospective cohorts (n = 252 lung cancer cases and 252 controls) and replicated associations for a subset of proteins in 4 cohorts (n = 479 cases and 479 controls). Eligible participants had a current or former history of smoking and cases were diagnosed up to 3 years following blood draw. The Nodule Malignancy project measured 1078 proteins among participants with a heavy smoking history within four LDCT screening studies (n = 425 cases diagnosed up to 5 years following blood draw, 430 benign-nodule controls, and 398 nodule-free controls). The INTEGRAL panel will enable absolute quantification of 21 proteins. We will evaluate its performance in the Risk Biomarker project using a case-cohort study including 14 cohorts (n = 1696 cases and 2926 subcohort representatives), and in the Nodule Malignancy project within five LDCT screening studies (n = 675 cases, 680 benign-nodule controls, and 648 nodule-free controls). Future progress to advance lung cancer early detection biomarkers will require carefully designed validation, translational, and comparative studies.
Published: 2023
Full Text: View/download PDF

5. Design and methodological considerations for biomarker discovery and validation in the Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Program

Author: Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, Hung, Rayjean J., Robbins, Hilary A., Alcala, Karine, Moez, Elham Khodayari, Guida, Florence, Thomas, Sera, Zahed, Hana, Warkentin, Matthew T., Smith-Byrne, Karl, Brhane, Yonathan, Muller, David, Feng, Xiaoshuang, Albanes, Demetrius, Aldrich, Melinda C., Arslan, Alan A., Bassett, Julie, Berg, Christine D., Cai, Qiuyin, Chen, Chu, Davies, Michael P.A., Diergaarde, Brenda, Field, John K., Freedman, Neal D., Huang, Wen-Yi, Johansson, Mikael, Jones, Michael, Koh, Woon-Puay, Lam, Stephen, Lan, Qing, Langhammer, Arnulf, Liao, Linda M., Liu, Geoffrey, Malekzadeh, Reza, Milne, Roger L., Montuenga, Luis M., Rohan, Thomas, Sesso, Howard D., Severi, Gianluca, Sheikh, Mahdi, Sinha, Rashmi, Shu, Xiao-Ou, Stevens, Victoria L., Tammemägi, Martin C., Tinker, Lesley F., Visvanathan, Kala, Wang, Ying, Wang, Renwei, Weinstein, Stephanie J., White, Emily, Wilson, David, Yuan, Jian-Min, Zhang, Xuehong, Zheng, Wei, Amos, Christopher I., Brennan, Paul, Johansson, Mattias, and Hung, Rayjean J.
Abstract: The Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) program is an NCI-funded initiative with an objective to develop tools to optimize low-dose CT (LDCT) lung cancer screening. Here, we describe the rationale and design for the Risk Biomarker and Nodule Malignancy projects within INTEGRAL. The overarching goal of these projects is to systematically investigate circulating protein markers to include on a panel for use (i) pre-LDCT, to identify people likely to benefit from screening, and (ii) post-LDCT, to differentiate benign versus malignant nodules. To identify informative proteins, the Risk Biomarker project measured 1161 proteins in a nested-case control study within 2 prospective cohorts (n = 252 lung cancer cases and 252 controls) and replicated associations for a subset of proteins in 4 cohorts (n = 479 cases and 479 controls). Eligible participants had a current or former history of smoking and cases were diagnosed up to 3 years following blood draw. The Nodule Malignancy project measured 1078 proteins among participants with a heavy smoking history within four LDCT screening studies (n = 425 cases diagnosed up to 5 years following blood draw, 430 benign-nodule controls, and 398 nodule-free controls). The INTEGRAL panel will enable absolute quantification of 21 proteins. We will evaluate its performance in the Risk Biomarker project using a case-cohort study including 14 cohorts (n = 1696 cases and 2926 subcohort representatives), and in the Nodule Malignancy project within five LDCT screening studies (n = 675 cases, 680 benign-nodule controls, and 648 nodule-free controls). Future progress to advance lung cancer early detection biomarkers will require carefully designed validation, translational, and comparative studies.
Published: 2023
Full Text: View/download PDF

6. Body mass index and breast cancer survival:a Mendelian randomization analysis

Author: Guo, Qi, Burgess, Stephen, Turman, Constance, Bolla, Manjeet K, Wang, Qin, Lush, Michael, Abraham, Jean, Aittomäki, Kristiina, Andrulis, Irene L, Apicella, Carmel, Arndt, Volker, Barrdahl, Myrto, Benitez, Javier, Berg, Christine D, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Brand, Judith S, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldas, Carlos, Campa, Daniele, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J, Chin, Suet-Feung, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Diver, W Ryan, Dunning, Alison M, Earl, Helena M, Eccles, Diana M, Ekici, Arif B, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gapstur, Susan M, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Grip, Mervi, Gronwald, Jacek, Haeberle, Lothar, Hall, Per, Hamann, Ute, Hankinson, Susan, Hartikainen, Jaana M, Hein, Alexander, Hiller, Louise, Hogervorst, Frans B, Holleczek, Bernd, Hooning, Maartje J, Hoover, Robert N, Humphreys, Keith, Hunter, David J, Hüsing, Anika, Jakubowska, Anna, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kataja, Vesa, Knight, Julia A, Koppert, Linetta B, Kosma, Veli-Matti, Kristensen, Vessela N, Lambrechts, Diether, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lindström, Sara, Lissowska, Jolanta, Lubinski, Jan, Machiela, Mitchell J, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Federik, Martens, John WM, McLean, Catriona, Menéndez, Primitiva, Milne, Roger L, Mulligan, Anna Marie, Muranen, Taru A, Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F, Nordestgaard, Børge G, Olson, Janet E, Perez, Jose IA, Peterlongo, Paolo, Phillips, Kelly-Anne, Poole, Christopher J, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rüdiger, Thomas, Rudolph, Anja, Sawyer, Elinor J, Schumacher, Fredrick, Seibold, Petra, Seynaeve, Caroline, Shah, Mitul, Smeets, Ann, Southey, Melissa C, Tollenaar, Rob A E M, Tomlinson, Ian, Tsimiklis, Helen, Ulmer, Hans Ulrich, Vachon, Celine, van den Ouweland, Ans MW, Van't Veer, Laura J, Wildiers, Hans, Willett, Walter, Winqvist, Robert, Pilar Zamora, M, Chenevix-Trench, Georgia, Dörk, Thilo, Easton, Douglas F., García-Closas, Montserrat, Kraft, Peter, Hopper, John L, Zheng, Wei, Schmidt, Marjanka K, Pharoah, Paul DP, Guo, Qi, Burgess, Stephen, Turman, Constance, Bolla, Manjeet K, Wang, Qin, Lush, Michael, Abraham, Jean, Aittomäki, Kristiina, Andrulis, Irene L, Apicella, Carmel, Arndt, Volker, Barrdahl, Myrto, Benitez, Javier, Berg, Christine D, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Brand, Judith S, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldas, Carlos, Campa, Daniele, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J, Chin, Suet-Feung, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Diver, W Ryan, Dunning, Alison M, Earl, Helena M, Eccles, Diana M, Ekici, Arif B, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gapstur, Susan M, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Grip, Mervi, Gronwald, Jacek, Haeberle, Lothar, Hall, Per, Hamann, Ute, Hankinson, Susan, Hartikainen, Jaana M, Hein, Alexander, Hiller, Louise, Hogervorst, Frans B, Holleczek, Bernd, Hooning, Maartje J, Hoover, Robert N, Humphreys, Keith, Hunter, David J, Hüsing, Anika, Jakubowska, Anna, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kataja, Vesa, Knight, Julia A, Koppert, Linetta B, Kosma, Veli-Matti, Kristensen, Vessela N, Lambrechts, Diether, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lindström, Sara, Lissowska, Jolanta, Lubinski, Jan, Machiela, Mitchell J, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Federik, Martens, John WM, McLean, Catriona, Menéndez, Primitiva, Milne, Roger L, Mulligan, Anna Marie, Muranen, Taru A, Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F, Nordestgaard, Børge G, Olson, Janet E, Perez, Jose IA, Peterlongo, Paolo, Phillips, Kelly-Anne, Poole, Christopher J, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rüdiger, Thomas, Rudolph, Anja, Sawyer, Elinor J, Schumacher, Fredrick, Seibold, Petra, Seynaeve, Caroline, Shah, Mitul, Smeets, Ann, Southey, Melissa C, Tollenaar, Rob A E M, Tomlinson, Ian, Tsimiklis, Helen, Ulmer, Hans Ulrich, Vachon, Celine, van den Ouweland, Ans MW, Van't Veer, Laura J, Wildiers, Hans, Willett, Walter, Winqvist, Robert, Pilar Zamora, M, Chenevix-Trench, Georgia, Dörk, Thilo, Easton, Douglas F., García-Closas, Montserrat, Kraft, Peter, Hopper, John L, Zheng, Wei, Schmidt, Marjanka K, and Pharoah, Paul DP
Abstract: Background: There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a Mendelian randomization analysis to investigate a possible causal role of BMI in survival from breast cancer.Methods: We used individual-level data from six large breast cancer case-cohorts including a total of 36 210 individuals (2475 events) of European ancestry. We created a BMI genetic risk score (GRS) based on genotypes at 94 known BMI-associated genetic variants. Association between the BMI genetic score and breast cancer survival was analysed by Cox regression for each study separately. Study-specific hazard ratios were pooled using fixed-effect meta-analysis.Results: BMI genetic score was found to be associated with reduced breast cancer-specific survival for estrogen receptor (ER)-positive cases [hazard ratio (HR) = 1.11, per one-unit increment of GRS, 95% confidence interval (CI) 1.01-1.22, P = 0.03). We observed no association for ER-negative cases (HR = 1.00, per one-unit increment of GRS, 95% CI 0.89-1.13, P = 0.95).Conclusions: Our findings suggest a causal effect of increased BMI on reduced breast cancer survival for ER-positive breast cancer. There is no evidence of a causal effect of higher BMI on survival for ER-negative breast cancer cases.
Published: 2017

7. Body mass index and breast cancer survival:a Mendelian randomization analysis

Author: Guo, Qi, Burgess, Stephen, Turman, Constance, Bolla, Manjeet K, Wang, Qin, Lush, Michael, Abraham, Jean, Aittomäki, Kristiina, Andrulis, Irene L, Apicella, Carmel, Arndt, Volker, Barrdahl, Myrto, Benitez, Javier, Berg, Christine D, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Brand, Judith S, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldas, Carlos, Campa, Daniele, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J, Chin, Suet-Feung, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Diver, W Ryan, Dunning, Alison M, Earl, Helena M, Eccles, Diana M, Ekici, Arif B, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gapstur, Susan M, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Grip, Mervi, Gronwald, Jacek, Haeberle, Lothar, Hall, Per, Hamann, Ute, Hankinson, Susan, Hartikainen, Jaana M, Hein, Alexander, Hiller, Louise, Hogervorst, Frans B, Holleczek, Bernd, Hooning, Maartje J, Hoover, Robert N, Humphreys, Keith, Hunter, David J, Hüsing, Anika, Jakubowska, Anna, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kataja, Vesa, Knight, Julia A, Koppert, Linetta B, Kosma, Veli-Matti, Kristensen, Vessela N, Lambrechts, Diether, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lindström, Sara, Lissowska, Jolanta, Lubinski, Jan, Machiela, Mitchell J, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Federik, Martens, John WM, McLean, Catriona, Menéndez, Primitiva, Milne, Roger L, Mulligan, Anna Marie, Muranen, Taru A, Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F, Nordestgaard, Børge G, Olson, Janet E, Perez, Jose IA, Peterlongo, Paolo, Phillips, Kelly-Anne, Poole, Christopher J, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rüdiger, Thomas, Rudolph, Anja, Sawyer, Elinor J, Schumacher, Fredrick, Seibold, Petra, Seynaeve, Caroline, Shah, Mitul, Smeets, Ann, Southey, Melissa C, Tollenaar, Rob A E M, Tomlinson, Ian, Tsimiklis, Helen, Ulmer, Hans Ulrich, Vachon, Celine, van den Ouweland, Ans MW, Van't Veer, Laura J, Wildiers, Hans, Willett, Walter, Winqvist, Robert, Pilar Zamora, M, Chenevix-Trench, Georgia, Dörk, Thilo, Easton, Douglas F., García-Closas, Montserrat, Kraft, Peter, Hopper, John L, Zheng, Wei, Schmidt, Marjanka K, Pharoah, Paul DP, Guo, Qi, Burgess, Stephen, Turman, Constance, Bolla, Manjeet K, Wang, Qin, Lush, Michael, Abraham, Jean, Aittomäki, Kristiina, Andrulis, Irene L, Apicella, Carmel, Arndt, Volker, Barrdahl, Myrto, Benitez, Javier, Berg, Christine D, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Brand, Judith S, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldas, Carlos, Campa, Daniele, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J, Chin, Suet-Feung, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Diver, W Ryan, Dunning, Alison M, Earl, Helena M, Eccles, Diana M, Ekici, Arif B, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gapstur, Susan M, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Grip, Mervi, Gronwald, Jacek, Haeberle, Lothar, Hall, Per, Hamann, Ute, Hankinson, Susan, Hartikainen, Jaana M, Hein, Alexander, Hiller, Louise, Hogervorst, Frans B, Holleczek, Bernd, Hooning, Maartje J, Hoover, Robert N, Humphreys, Keith, Hunter, David J, Hüsing, Anika, Jakubowska, Anna, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kataja, Vesa, Knight, Julia A, Koppert, Linetta B, Kosma, Veli-Matti, Kristensen, Vessela N, Lambrechts, Diether, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lindström, Sara, Lissowska, Jolanta, Lubinski, Jan, Machiela, Mitchell J, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Federik, Martens, John WM, McLean, Catriona, Menéndez, Primitiva, Milne, Roger L, Mulligan, Anna Marie, Muranen, Taru A, Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F, Nordestgaard, Børge G, Olson, Janet E, Perez, Jose IA, Peterlongo, Paolo, Phillips, Kelly-Anne, Poole, Christopher J, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rüdiger, Thomas, Rudolph, Anja, Sawyer, Elinor J, Schumacher, Fredrick, Seibold, Petra, Seynaeve, Caroline, Shah, Mitul, Smeets, Ann, Southey, Melissa C, Tollenaar, Rob A E M, Tomlinson, Ian, Tsimiklis, Helen, Ulmer, Hans Ulrich, Vachon, Celine, van den Ouweland, Ans MW, Van't Veer, Laura J, Wildiers, Hans, Willett, Walter, Winqvist, Robert, Pilar Zamora, M, Chenevix-Trench, Georgia, Dörk, Thilo, Easton, Douglas F., García-Closas, Montserrat, Kraft, Peter, Hopper, John L, Zheng, Wei, Schmidt, Marjanka K, and Pharoah, Paul DP
Abstract: Background: There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a Mendelian randomization analysis to investigate a possible causal role of BMI in survival from breast cancer.Methods: We used individual-level data from six large breast cancer case-cohorts including a total of 36 210 individuals (2475 events) of European ancestry. We created a BMI genetic risk score (GRS) based on genotypes at 94 known BMI-associated genetic variants. Association between the BMI genetic score and breast cancer survival was analysed by Cox regression for each study separately. Study-specific hazard ratios were pooled using fixed-effect meta-analysis.Results: BMI genetic score was found to be associated with reduced breast cancer-specific survival for estrogen receptor (ER)-positive cases [hazard ratio (HR) = 1.11, per one-unit increment of GRS, 95% confidence interval (CI) 1.01-1.22, P = 0.03). We observed no association for ER-negative cases (HR = 1.00, per one-unit increment of GRS, 95% CI 0.89-1.13, P = 0.95).Conclusions: Our findings suggest a causal effect of increased BMI on reduced breast cancer survival for ER-positive breast cancer. There is no evidence of a causal effect of higher BMI on survival for ER-negative breast cancer cases.
Published: 2017

8. ABO blood group alleles and prostate cancer risk : Results from the breast and prostate cancer cohort consortium (BPC3)

Author: Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, Wilson, Kathryn M, Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, and Wilson, Kathryn M
Abstract: BACKGROUND: ABO blood group has been associated with risk of cancers of the pancreas, stomach, ovary, kidney, and skin, but has not been evaluated in relation to risk of aggressive prostate cancer. METHODS: We used three single nucleotide polymorphisms (SNPs) (rs8176746, rs505922, and rs8176704) to determine ABO genotype in 2,774 aggressive prostate cancer cases and 4,443 controls from the Breast and Prostate Cancer Cohort Consortium (BPC3). Unconditional logistic regression was used to calculate age and study-adjusted odds ratios and 95% confidence intervals for the association between blood type, genotype, and risk of aggressive prostate cancer (Gleason score ≥8 or locally advanced/metastatic disease (stage T3/T4/N1/M1). RESULTS: We found no association between ABO blood type and risk of aggressive prostate cancer (Type A: OR = 0.97, 95%CI = 0.87-1.08; Type B: OR = 0.92, 95%CI =n0.77-1.09; Type AB: OR = 1.25, 95%CI = 0.98-1.59, compared to Type O, respectively). Similarly, there was no association between "dose" of A or B alleles and aggressive prostate cancer risk. CONCLUSIONS: ABO blood type was not associated with risk of aggressive prostate cancer.
Published: 2015
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9. ABO blood group alleles and prostate cancer risk : Results from the breast and prostate cancer cohort consortium (BPC3)

Author: Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, Wilson, Kathryn M, Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, and Wilson, Kathryn M
Abstract: BACKGROUND: ABO blood group has been associated with risk of cancers of the pancreas, stomach, ovary, kidney, and skin, but has not been evaluated in relation to risk of aggressive prostate cancer. METHODS: We used three single nucleotide polymorphisms (SNPs) (rs8176746, rs505922, and rs8176704) to determine ABO genotype in 2,774 aggressive prostate cancer cases and 4,443 controls from the Breast and Prostate Cancer Cohort Consortium (BPC3). Unconditional logistic regression was used to calculate age and study-adjusted odds ratios and 95% confidence intervals for the association between blood type, genotype, and risk of aggressive prostate cancer (Gleason score ≥8 or locally advanced/metastatic disease (stage T3/T4/N1/M1). RESULTS: We found no association between ABO blood type and risk of aggressive prostate cancer (Type A: OR = 0.97, 95%CI = 0.87-1.08; Type B: OR = 0.92, 95%CI =n0.77-1.09; Type AB: OR = 1.25, 95%CI = 0.98-1.59, compared to Type O, respectively). Similarly, there was no association between "dose" of A or B alleles and aggressive prostate cancer risk. CONCLUSIONS: ABO blood type was not associated with risk of aggressive prostate cancer.
Published: 2015
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10. ABO blood group alleles and prostate cancer risk : Results from the breast and prostate cancer cohort consortium (BPC3)

Author: Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, Wilson, Kathryn M, Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, and Wilson, Kathryn M
Abstract: BACKGROUND: ABO blood group has been associated with risk of cancers of the pancreas, stomach, ovary, kidney, and skin, but has not been evaluated in relation to risk of aggressive prostate cancer. METHODS: We used three single nucleotide polymorphisms (SNPs) (rs8176746, rs505922, and rs8176704) to determine ABO genotype in 2,774 aggressive prostate cancer cases and 4,443 controls from the Breast and Prostate Cancer Cohort Consortium (BPC3). Unconditional logistic regression was used to calculate age and study-adjusted odds ratios and 95% confidence intervals for the association between blood type, genotype, and risk of aggressive prostate cancer (Gleason score ≥8 or locally advanced/metastatic disease (stage T3/T4/N1/M1). RESULTS: We found no association between ABO blood type and risk of aggressive prostate cancer (Type A: OR = 0.97, 95%CI = 0.87-1.08; Type B: OR = 0.92, 95%CI =n0.77-1.09; Type AB: OR = 1.25, 95%CI = 0.98-1.59, compared to Type O, respectively). Similarly, there was no association between "dose" of A or B alleles and aggressive prostate cancer risk. CONCLUSIONS: ABO blood type was not associated with risk of aggressive prostate cancer.
Published: 2015
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11. ABO Blood Group Alleles and Prostate Cancer Risk : results from the Breast and Prostate Cancer Cohort Consortium (BPC3)

Author: Markt, Sarah C., Shui, Irene M., Unger, Robert H., Urun, Yuksel, Berg, Christine D., Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H. Bas, Gapstur, Susan M., Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N., Hunter, David J., Key, Timothy J., Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J., Stattin, Pär, Stevens, Victoria L., Stram, Daniel O., Tjonneland, Anne, Travis, Ruth C., Trichopoulos, Dimitrios, Ziegler, Regina G., Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A., Choueiri, Toni K., Wilson, Kathryn M., Markt, Sarah C., Shui, Irene M., Unger, Robert H., Urun, Yuksel, Berg, Christine D., Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H. Bas, Gapstur, Susan M., Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N., Hunter, David J., Key, Timothy J., Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J., Stattin, Pär, Stevens, Victoria L., Stram, Daniel O., Tjonneland, Anne, Travis, Ruth C., Trichopoulos, Dimitrios, Ziegler, Regina G., Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A., Choueiri, Toni K., and Wilson, Kathryn M.
Abstract: BACKGROUND. ABO blood group has been associated with risk of cancers of the pancreas, stomach, ovary, kidney, and skin, but has not been evaluated in relation to risk of aggressive prostate cancer. METHODS. We used three single nucleotide polymorphisms (SNPs) (rs8176746, rs505922, and rs8176704) to determine ABO genotype in 2,774 aggressive prostate cancer cases and 4,443 controls from the Breast and Prostate Cancer Cohort Consortium (BPC3). Unconditional logistic regression was used to calculate age and study-adjusted odds ratios and 95% confidence intervals for the association between blood type, genotype, and risk of aggressive prostate cancer (Gleason score >= 8 or locally advanced/metastatic disease (stage T3/T4/N1/M1). RESULTS. We found no association between ABO blood type and risk of aggressive prostate cancer (Type A: OR = 0.97, 95% CI = 0.87-1.08; Type B: OR = 0.92, 95% CI = n0.77-1.09; Type AB: OR = 1.25, 95% CI = 0.98-1.59, compared to Type O, respectively). Similarly, there was no association between "dose" of A or B alleles and aggressive prostate cancer risk. CONCLUSIONS. ABO blood type was not associated with risk of aggressive prostate cancer. Prostate 75: 1677-1681, 2015. (C) 2015 Wiley Periodicals, Inc.
Published: 2015
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12. Vitamin D-Associated Genetic Variation and Risk of Breast Cancer in the Breast and Prostate Cancer Cohort Consortium (BPC3)

Author: Mondul, Alison M., Shui, Irene M., Yu, Kai, Weinstein, Stephanie J., Tsilidis, Konstantinos K., Joshi, Amit D., Agudo, Antonio, Berg, Christine D., Black, Amanda, Buring, Julie E., Chasman, Daniel I., Gaudet, Mia M., Haiman, Christopher, Hankinson, Susan E., Henderson, Brian E., Hoover, Robert N., Hunter, David J., Khaw, Kay-Tee, Kuehn, Tilman, Kvaskoff, Marina, Le Marchand, Loic, Lindstroem, Sara, McCullough, Marjorie L., Overvad, Kim, Peeters, Petra H., Riboli, Elio, Ridker, Paul M., Stram, Daniel O., Sund, Malin, Trichopoulos, Dimitrios, Tumino, Rosario, Weiderpass, Elisabete, Willett, Walter, Kraft, Peter, Ziegler, Regina G., Albanes, Demetrius, Mondul, Alison M., Shui, Irene M., Yu, Kai, Weinstein, Stephanie J., Tsilidis, Konstantinos K., Joshi, Amit D., Agudo, Antonio, Berg, Christine D., Black, Amanda, Buring, Julie E., Chasman, Daniel I., Gaudet, Mia M., Haiman, Christopher, Hankinson, Susan E., Henderson, Brian E., Hoover, Robert N., Hunter, David J., Khaw, Kay-Tee, Kuehn, Tilman, Kvaskoff, Marina, Le Marchand, Loic, Lindstroem, Sara, McCullough, Marjorie L., Overvad, Kim, Peeters, Petra H., Riboli, Elio, Ridker, Paul M., Stram, Daniel O., Sund, Malin, Trichopoulos, Dimitrios, Tumino, Rosario, Weiderpass, Elisabete, Willett, Walter, Kraft, Peter, Ziegler, Regina G., and Albanes, Demetrius
Abstract: Background: Two recent genome-wide association studies (GWAS) identified SNPs in or near four genes related to circulating 25-hydroxyvitamin D [25(OH) D] concentration. To examine the hypothesized inverse relationship between vitamin D status and breast cancer, we studied the associations between SNPs in these genes and breast cancer risk in a large pooled study of 9,456 cases and 10,816 controls from six cohorts. Methods: SNP markers localized to each of four genes (GC, CYP24A1, CYP2R1, and DHCR7) previously associated with 25 (OH) D were genotyped and examined both individually and as a 4-SNP polygenic score. Logistic regression was used to estimate the associations between the genetic variants and risk of breast cancer. Results: We found no association between any of the four SNPs or their polygenic score and breast cancer risk. Conclusions: Our findings do not support an association between vitamin D status, as reflected by 25(OH) D-related genotypes, and breast cancer risk. Impact: These findings may contribute to future meta-analyses and scientific review articles, and provide new data about the association between vitamin D-related genes and breast cancer.
Published: 2015
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13. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F., Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, and Easton, Douglas F.
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015
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14. Identifying post-menopausal women at elevated risk for epithelial ovarian cancer.

Author: Urban, Nicole, Urban, Nicole, Hawley, Sarah, Janes, Holly, Karlan, Beth Y, Berg, Christine D, Drescher, Charles W, Manson, JoAnn E, Palomares, Melanie R, Daly, Mary B, Wactawski-Wende, Jean, O'Sullivan, Mary J, Thorpe, Jason, Robinson, Randal D, Lane, Dorothy, Li, Christopher I, Anderson, Garnet L, Urban, Nicole, Urban, Nicole, Hawley, Sarah, Janes, Holly, Karlan, Beth Y, Berg, Christine D, Drescher, Charles W, Manson, JoAnn E, Palomares, Melanie R, Daly, Mary B, Wactawski-Wende, Jean, O'Sullivan, Mary J, Thorpe, Jason, Robinson, Randal D, Lane, Dorothy, Li, Christopher I, and Anderson, Garnet L
Abstract: ObjectiveWe developed and validated a hybrid risk classifier combining serum markers and epidemiologic risk factors to identify post-menopausal women at elevated risk for invasive fallopian tube, primary peritoneal, and ovarian epithelial carcinoma.MethodsTo select epidemiologic risk factors for use in the classifier, Cox proportional hazards analyses were conducted using 74,786 Women's Health Initiative (WHI) Observational Study (OS) participants. To construct a combination classifier, 210 WHI OS cases and 536 matched controls with serum marker measurements were analyzed; validation employed 143 cases and 725 matched controls from the WHI Clinical Trial (CT) with similar data.ResultsAnalyses identified a combination risk classifier composed of two elevated-risk groups: 1) women with CA125 or HE4 exceeding a 98% specificity threshold; and 2) women with intact fallopian tubes, prior use of menopausal hormone therapy for at least two years, and either a first degree relative with breast or ovarian cancer or a personal history of breast cancer. In the WHI OS population, it classified 13% of women as elevated risk, identifying 30% of ovarian cancers diagnosed up to 7.8years post-enrollment (Hazard Ratio [HR]=2.6, p<0.001). In the WHI CT validation population, it classified 8% of women as elevated risk, identifying 31% of cancers diagnosed within 7years of enrollment (HR=4.6, p<0.001).ConclusionCA125 and HE4 contributed significantly to a risk prediction classifier combining serum markers with epidemiologic risk factors. The hybrid risk classifier may be useful to identify post-menopausal women who would benefit from timely surgical intervention to prevent epithelial ovarian cancer.
Published: 2015

15. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F., Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, and Easton, Douglas F.
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015

16. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F., Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, and Easton, Douglas F.
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015

17. Identifying post-menopausal women at elevated risk for epithelial ovarian cancer.

Author: Urban, Nicole, Urban, Nicole, Hawley, Sarah, Janes, Holly, Karlan, Beth Y, Berg, Christine D, Drescher, Charles W, Manson, JoAnn E, Palomares, Melanie R, Daly, Mary B, Wactawski-Wende, Jean, O'Sullivan, Mary J, Thorpe, Jason, Robinson, Randal D, Lane, Dorothy, Li, Christopher I, Anderson, Garnet L, Urban, Nicole, Urban, Nicole, Hawley, Sarah, Janes, Holly, Karlan, Beth Y, Berg, Christine D, Drescher, Charles W, Manson, JoAnn E, Palomares, Melanie R, Daly, Mary B, Wactawski-Wende, Jean, O'Sullivan, Mary J, Thorpe, Jason, Robinson, Randal D, Lane, Dorothy, Li, Christopher I, and Anderson, Garnet L
Abstract: ObjectiveWe developed and validated a hybrid risk classifier combining serum markers and epidemiologic risk factors to identify post-menopausal women at elevated risk for invasive fallopian tube, primary peritoneal, and ovarian epithelial carcinoma.MethodsTo select epidemiologic risk factors for use in the classifier, Cox proportional hazards analyses were conducted using 74,786 Women's Health Initiative (WHI) Observational Study (OS) participants. To construct a combination classifier, 210 WHI OS cases and 536 matched controls with serum marker measurements were analyzed; validation employed 143 cases and 725 matched controls from the WHI Clinical Trial (CT) with similar data.ResultsAnalyses identified a combination risk classifier composed of two elevated-risk groups: 1) women with CA125 or HE4 exceeding a 98% specificity threshold; and 2) women with intact fallopian tubes, prior use of menopausal hormone therapy for at least two years, and either a first degree relative with breast or ovarian cancer or a personal history of breast cancer. In the WHI OS population, it classified 13% of women as elevated risk, identifying 30% of ovarian cancers diagnosed up to 7.8years post-enrollment (Hazard Ratio [HR]=2.6, p<0.001). In the WHI CT validation population, it classified 8% of women as elevated risk, identifying 31% of cancers diagnosed within 7years of enrollment (HR=4.6, p<0.001).ConclusionCA125 and HE4 contributed significantly to a risk prediction classifier combining serum markers with epidemiologic risk factors. The hybrid risk classifier may be useful to identify post-menopausal women who would benefit from timely surgical intervention to prevent epithelial ovarian cancer.
Published: 2015

18. ABO blood group alleles and prostate cancer risk : Results from the breast and prostate cancer cohort consortium (BPC3)

Author: Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, Wilson, Kathryn M, Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, and Wilson, Kathryn M
Abstract: BACKGROUND: ABO blood group has been associated with risk of cancers of the pancreas, stomach, ovary, kidney, and skin, but has not been evaluated in relation to risk of aggressive prostate cancer. METHODS: We used three single nucleotide polymorphisms (SNPs) (rs8176746, rs505922, and rs8176704) to determine ABO genotype in 2,774 aggressive prostate cancer cases and 4,443 controls from the Breast and Prostate Cancer Cohort Consortium (BPC3). Unconditional logistic regression was used to calculate age and study-adjusted odds ratios and 95% confidence intervals for the association between blood type, genotype, and risk of aggressive prostate cancer (Gleason score ≥8 or locally advanced/metastatic disease (stage T3/T4/N1/M1). RESULTS: We found no association between ABO blood type and risk of aggressive prostate cancer (Type A: OR = 0.97, 95%CI = 0.87-1.08; Type B: OR = 0.92, 95%CI =n0.77-1.09; Type AB: OR = 1.25, 95%CI = 0.98-1.59, compared to Type O, respectively). Similarly, there was no association between "dose" of A or B alleles and aggressive prostate cancer risk. CONCLUSIONS: ABO blood type was not associated with risk of aggressive prostate cancer.
Published: 2015
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19. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F., Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, and Easton, Douglas F.
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015

20. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F., Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, and Easton, Douglas F.
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015

21. ABO blood group alleles and prostate cancer risk : Results from the breast and prostate cancer cohort consortium (BPC3)

Author: Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, Wilson, Kathryn M, Markt, Sarah C, Shui, Irene M, Unger, Robert H, Urun, Yuksel, Berg, Christine D, Black, Amanda, Brennan, Paul, Bueno-de-Mesquita, H Bas, Gapstur, Susan M, Giovannucci, Edward, Haiman, Christopher, Henderson, Brian, Hoover, Robert N, Hunter, David J, Key, Timothy J, Khaw, Kay-Tee, Canzian, Federico, Larranga, Nerea, Le Marchand, Loic, Ma, Jing, Naccarati, Alessio, Siddiq, Afshan, Stampfer, Meir J, Stattin, Pär, Stevens, Victoria L, Stram, Daniel O, Tjønneland, Anne, Travis, Ruth C, Trichopoulos, Dimitrios, Ziegler, Regina G, Lindstrom, Sara, Kraft, Peter, Mucci, Lorelei A, Choueiri, Toni K, and Wilson, Kathryn M
Abstract: BACKGROUND: ABO blood group has been associated with risk of cancers of the pancreas, stomach, ovary, kidney, and skin, but has not been evaluated in relation to risk of aggressive prostate cancer. METHODS: We used three single nucleotide polymorphisms (SNPs) (rs8176746, rs505922, and rs8176704) to determine ABO genotype in 2,774 aggressive prostate cancer cases and 4,443 controls from the Breast and Prostate Cancer Cohort Consortium (BPC3). Unconditional logistic regression was used to calculate age and study-adjusted odds ratios and 95% confidence intervals for the association between blood type, genotype, and risk of aggressive prostate cancer (Gleason score ≥8 or locally advanced/metastatic disease (stage T3/T4/N1/M1). RESULTS: We found no association between ABO blood type and risk of aggressive prostate cancer (Type A: OR = 0.97, 95%CI = 0.87-1.08; Type B: OR = 0.92, 95%CI =n0.77-1.09; Type AB: OR = 1.25, 95%CI = 0.98-1.59, compared to Type O, respectively). Similarly, there was no association between "dose" of A or B alleles and aggressive prostate cancer risk. CONCLUSIONS: ABO blood type was not associated with risk of aggressive prostate cancer.
Published: 2015
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22. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

Author: Wang, Zhaoming, Zhu, Bin, Zhang, Mingfeng, Parikh, Hemang, Jia, Jinping, Chung, Charles C, Sampson, Joshua N, Hoskins, Jason W, Hutchinson, Amy, Burdette, Laurie, Ibrahim, Abdisamad, Hautman, Christopher, Raj, Preethi S, Abnet, Christian C, Adjei, Andrew A, Ahlbom, Anders, Albanes, Demetrius, Allen, Naomi E, Ambrosone, Christine B, Aldrich, Melinda, Amiano, Pilar, Amos, Christopher, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Arici, Cecilia, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Beane Freeman, Laura E, Berg, Christine D, Berndt, Sonja I, Bertazzi, Pier Alberto, Biritwum, Richard B, Black, Amanda, Blot, William, Boeing, Heiner, Boffetta, Paolo, Bolton, Kelly, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brennan, Paul, Brinton, Louise A, Brotzman, Michelle, Bueno-de-Mesquita, H Bas, Buring, Julie E, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Cao, Guangwen, Caporaso, Neil E, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chang, Gee-Chen, Chang, I-Shou, Chang-Claude, Jenny, Che, Xu, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chung-Hsing, Chen, Constance, Chen, Kuan-Yu, Chen, Yuh-Min, Chokkalingam, Anand P, Chu, Lisa W, Clavel-Chapelon, Francoise, Colditz, Graham A, Colt, Joanne S, Conti, David, Cook, Michael B, Cortessis, Victoria K, Crawford, E David, Cussenot, Olivier, Davis, Faith G, De Vivo, Immaculata, Deng, Xiang, Ding, Ti, Dinney, Colin P, Di Stefano, Anna Luisa, Diver, W Ryan, Duell, Eric J, Elena, Joanne W, Fan, Jin-Hu, Feigelson, Heather Spencer, Feychting, Maria, Figueroa, Jonine D, Flanagan, Adrienne M, Fraumeni, Joseph F, Freedman, Neal D, Fridley, Brooke L, Fuchs, Charles S, Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, Garcia-Closas, Montserrat, Garcia-Closas, Reina, Gastier-Foster, Julie M, Gaziano, J Michael, Gerhard, Daniela S, Giffen, Carol A, Giles, Graham G, Gillanders, Elizabeth M, Giovannucci, Edward L, Goggins, Michael, Gokgoz, Nalan, Goldstein, Alisa M, Gonzalez, Carlos, Gorlick, Richard, Greene, Mark H, Gross, Myron, Grossman, H Barton, Grubb, Robert, Gu, Jian, Guan, Peng, Haiman, Christopher A, Hallmans, Goran, Hankinson, Susan E, Harris, Curtis C, Hartge, Patricia, Hattinger, Claudia, Hayes, Richard B, He, Qincheng, Helman, Lee, Henderson, Brian E, Henriksson, Roger, Hoffman-Bolton, Judith, Hohensee, Chancellor, Holly, Elizabeth A, Hong, Yun-Chul, Hoover, Robert N, Hosgood, H Dean, Hsiao, Chin-Fu, Hsing, Ann W, Hsiung, Chao Agnes, Hu, Nan, Hu, Wei, Hu, Zhibin, Huang, Ming-Shyan, Hunter, David J, Inskip, Peter D, Ito, Hidemi, Jacobs, Eric J, Jacobs, Kevin B, Jenab, Mazda, Ji, Bu-Tian, Johansen, Christoffer, Johansson, Mattias, Johnson, Alison, Kaaks, Rudolf, Kamat, Ashish M, Kamineni, Aruna, Karagas, Margaret, Khanna, Chand, Khaw, Kay-Tee, Kim, Christopher, Kim, In-Sam, Kim, Jin Hee, Kim, Yeul Hong, Kim, Young-Chul, Kim, Young Tae, Kang, Chang Hyun, Jung, Yoo Jin, Kitahara, Cari M, Klein, Alison P, Klein, Robert, Kogevinas, Manolis, Koh, Woon-Puay, Kohno, Takashi, Kolonel, Laurence N, Kooperberg, Charles, Kratz, Christian P, Krogh, Vittorio, Kunitoh, Hideo, Kurtz, Robert C, Kurucu, Nilgun, Lan, Qing, Lathrop, Mark, Lau, Ching C, Lecanda, Fernando, Lee, Kyoung-Mu, Lee, Maxwell P, Le Marchand, Loic, Lerner, Seth P, Li, Donghui, Liao, Linda M, Lim, Wei-Yen, Lin, Dongxin, Lin, Jie, Lindstrom, Sara, Linet, Martha S, Lissowska, Jolanta, Liu, Jianjun, Ljungberg, Börje, Lloreta, Josep, Lu, Daru, Ma, Jing, Malats, Nuria, Mannisto, Satu, Marina, Neyssa, Mastrangelo, Giuseppe, Matsuo, Keitaro, McGlynn, Katherine A, McKean-Cowdin, Roberta, McNeill, Lorna H, McWilliams, Robert R, Melin, Beatrice S, Meltzer, Paul S, Mensah, James E, Miao, Xiaoping, Michaud, Dominique S, Mondul, Alison M, Moore, Lee E, Muir, Kenneth, Niwa, Shelley, Olson, Sara H, Orr, Nick, Panico, Salvatore, Park, Jae Yong, Patel, Alpa V, Patino-Garcia, Ana, Pavanello, Sofia, Peeters, Petra H M, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M, Picci, Piero, Pike, Malcolm C, Porru, Stefano, Prescott, Jennifer, Pu, Xia, Purdue, Mark P, Qiao, You-Lin, Rajaraman, Preetha, Riboli, Elio, Risch, Harvey A, Rodabough, Rebecca J, Rothman, Nathaniel, Ruder, Avima M, Ryu, Jeong-Seon, Sanson, Marc, Schned, Alan, Schumacher, Fredrick R, Schwartz, Ann G, Schwartz, Kendra L, Schwenn, Molly, Scotlandi, Katia, Seow, Adeline, Serra, Consol, Serra, Massimo, Sesso, Howard D, Severi, Gianluca, Shen, Hongbing, Shen, Min, Shete, Sanjay, Shiraishi, Kouya, Shu, Xiao-Ou, Siddiq, Afshan, Sierrasesumaga, Luis, Sierri, Sabina, Loon Sihoe, Alan Dart, Silverman, Debra T, Simon, Matthias, Southey, Melissa C, Spector, Logan, Spitz, Margaret, Stampfer, Meir, Stattin, Pär, Stern, Mariana C, Stevens, Victoria L, Stolzenberg-Solomon, Rachael Z, Stram, Daniel O, Strom, Sara S, Su, Wu-Chou, Sund, Malin, Sung, Sook Whan, Swerdlow, Anthony, Tan, Wen, Tanaka, Hideo, Tang, Wei, Tang, Ze-Zhang, Tardon, Adonina, Tay, Evelyn, Taylor, Philip R, Tettey, Yao, Thomas, David M, Tirabosco, Roberto, Tjonneland, Anne, Tobias, Geoffrey S, Toro, Jorge R, Travis, Ruth C, Trichopoulos, Dimitrios, Troisi, Rebecca, Truelove, Ann, Tsai, Ying-Huang, Tucker, Margaret A, Tumino, Rosario, Van Den Berg, David, Van Den Eeden, Stephen K, Vermeulen, Roel, Vineis, Paolo, Visvanathan, Kala, Vogel, Ulla, Wang, Chaoyu, Wang, Chengfeng, Wang, Junwen, Wang, Sophia S, Weiderpass, Elisabete, Weinstein, Stephanie J, Wentzensen, Nicolas, Wheeler, William, White, Emily, Wiencke, John K, Wolk, Alicja, Wolpin, Brian M, Wong, Maria Pik, Wrensch, Margaret, Wu, Chen, Wu, Tangchun, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S, Xiang, Yong-Bing, Xu, Jun, Yang, Hannah P, Yang, Pan-Chyr, Yatabe, Yasushi, Ye, Yuanqing, Yeboah, Edward D, Yin, Zhihua, Ying, Chen, Yu, Chong-Jen, Yu, Kai, Yuan, Jian-Min, Zanetti, Krista A, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Zhou, Baosen, Mirabello, Lisa, Savage, Sharon A, Kraft, Peter, Chanock, Stephen J, Yeager, Meredith, Landi, Maria Terese, Shi, Jianxin, Chatterjee, Nilanjan, Amundadottir, Laufey T, Wang, Zhaoming, Zhu, Bin, Zhang, Mingfeng, Parikh, Hemang, Jia, Jinping, Chung, Charles C, Sampson, Joshua N, Hoskins, Jason W, Hutchinson, Amy, Burdette, Laurie, Ibrahim, Abdisamad, Hautman, Christopher, Raj, Preethi S, Abnet, Christian C, Adjei, Andrew A, Ahlbom, Anders, Albanes, Demetrius, Allen, Naomi E, Ambrosone, Christine B, Aldrich, Melinda, Amiano, Pilar, Amos, Christopher, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Arici, Cecilia, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Beane Freeman, Laura E, Berg, Christine D, Berndt, Sonja I, Bertazzi, Pier Alberto, Biritwum, Richard B, Black, Amanda, Blot, William, Boeing, Heiner, Boffetta, Paolo, Bolton, Kelly, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brennan, Paul, Brinton, Louise A, Brotzman, Michelle, Bueno-de-Mesquita, H Bas, Buring, Julie E, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Cao, Guangwen, Caporaso, Neil E, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chang, Gee-Chen, Chang, I-Shou, Chang-Claude, Jenny, Che, Xu, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chung-Hsing, Chen, Constance, Chen, Kuan-Yu, Chen, Yuh-Min, Chokkalingam, Anand P, Chu, Lisa W, Clavel-Chapelon, Francoise, Colditz, Graham A, Colt, Joanne S, Conti, David, Cook, Michael B, Cortessis, Victoria K, Crawford, E David, Cussenot, Olivier, Davis, Faith G, De Vivo, Immaculata, Deng, Xiang, Ding, Ti, Dinney, Colin P, Di Stefano, Anna Luisa, Diver, W Ryan, Duell, Eric J, Elena, Joanne W, Fan, Jin-Hu, Feigelson, Heather Spencer, Feychting, Maria, Figueroa, Jonine D, Flanagan, Adrienne M, Fraumeni, Joseph F, Freedman, Neal D, Fridley, Brooke L, Fuchs, Charles S, Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, Garcia-Closas, Montserrat, Garcia-Closas, Reina, Gastier-Foster, Julie M, Gaziano, J Michael, Gerhard, Daniela S, Giffen, Carol A, Giles, Graham G, Gillanders, Elizabeth M, Giovannucci, Edward L, Goggins, Michael, Gokgoz, Nalan, Goldstein, Alisa M, Gonzalez, Carlos, Gorlick, Richard, Greene, Mark H, Gross, Myron, Grossman, H Barton, Grubb, Robert, Gu, Jian, Guan, Peng, Haiman, Christopher A, Hallmans, Goran, Hankinson, Susan E, Harris, Curtis C, Hartge, Patricia, Hattinger, Claudia, Hayes, Richard B, He, Qincheng, Helman, Lee, Henderson, Brian E, Henriksson, Roger, Hoffman-Bolton, Judith, Hohensee, Chancellor, Holly, Elizabeth A, Hong, Yun-Chul, Hoover, Robert N, Hosgood, H Dean, Hsiao, Chin-Fu, Hsing, Ann W, Hsiung, Chao Agnes, Hu, Nan, Hu, Wei, Hu, Zhibin, Huang, Ming-Shyan, Hunter, David J, Inskip, Peter D, Ito, Hidemi, Jacobs, Eric J, Jacobs, Kevin B, Jenab, Mazda, Ji, Bu-Tian, Johansen, Christoffer, Johansson, Mattias, Johnson, Alison, Kaaks, Rudolf, Kamat, Ashish M, Kamineni, Aruna, Karagas, Margaret, Khanna, Chand, Khaw, Kay-Tee, Kim, Christopher, Kim, In-Sam, Kim, Jin Hee, Kim, Yeul Hong, Kim, Young-Chul, Kim, Young Tae, Kang, Chang Hyun, Jung, Yoo Jin, Kitahara, Cari M, Klein, Alison P, Klein, Robert, Kogevinas, Manolis, Koh, Woon-Puay, Kohno, Takashi, Kolonel, Laurence N, Kooperberg, Charles, Kratz, Christian P, Krogh, Vittorio, Kunitoh, Hideo, Kurtz, Robert C, Kurucu, Nilgun, Lan, Qing, Lathrop, Mark, Lau, Ching C, Lecanda, Fernando, Lee, Kyoung-Mu, Lee, Maxwell P, Le Marchand, Loic, Lerner, Seth P, Li, Donghui, Liao, Linda M, Lim, Wei-Yen, Lin, Dongxin, Lin, Jie, Lindstrom, Sara, Linet, Martha S, Lissowska, Jolanta, Liu, Jianjun, Ljungberg, Börje, Lloreta, Josep, Lu, Daru, Ma, Jing, Malats, Nuria, Mannisto, Satu, Marina, Neyssa, Mastrangelo, Giuseppe, Matsuo, Keitaro, McGlynn, Katherine A, McKean-Cowdin, Roberta, McNeill, Lorna H, McWilliams, Robert R, Melin, Beatrice S, Meltzer, Paul S, Mensah, James E, Miao, Xiaoping, Michaud, Dominique S, Mondul, Alison M, Moore, Lee E, Muir, Kenneth, Niwa, Shelley, Olson, Sara H, Orr, Nick, Panico, Salvatore, Park, Jae Yong, Patel, Alpa V, Patino-Garcia, Ana, Pavanello, Sofia, Peeters, Petra H M, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M, Picci, Piero, Pike, Malcolm C, Porru, Stefano, Prescott, Jennifer, Pu, Xia, Purdue, Mark P, Qiao, You-Lin, Rajaraman, Preetha, Riboli, Elio, Risch, Harvey A, Rodabough, Rebecca J, Rothman, Nathaniel, Ruder, Avima M, Ryu, Jeong-Seon, Sanson, Marc, Schned, Alan, Schumacher, Fredrick R, Schwartz, Ann G, Schwartz, Kendra L, Schwenn, Molly, Scotlandi, Katia, Seow, Adeline, Serra, Consol, Serra, Massimo, Sesso, Howard D, Severi, Gianluca, Shen, Hongbing, Shen, Min, Shete, Sanjay, Shiraishi, Kouya, Shu, Xiao-Ou, Siddiq, Afshan, Sierrasesumaga, Luis, Sierri, Sabina, Loon Sihoe, Alan Dart, Silverman, Debra T, Simon, Matthias, Southey, Melissa C, Spector, Logan, Spitz, Margaret, Stampfer, Meir, Stattin, Pär, Stern, Mariana C, Stevens, Victoria L, Stolzenberg-Solomon, Rachael Z, Stram, Daniel O, Strom, Sara S, Su, Wu-Chou, Sund, Malin, Sung, Sook Whan, Swerdlow, Anthony, Tan, Wen, Tanaka, Hideo, Tang, Wei, Tang, Ze-Zhang, Tardon, Adonina, Tay, Evelyn, Taylor, Philip R, Tettey, Yao, Thomas, David M, Tirabosco, Roberto, Tjonneland, Anne, Tobias, Geoffrey S, Toro, Jorge R, Travis, Ruth C, Trichopoulos, Dimitrios, Troisi, Rebecca, Truelove, Ann, Tsai, Ying-Huang, Tucker, Margaret A, Tumino, Rosario, Van Den Berg, David, Van Den Eeden, Stephen K, Vermeulen, Roel, Vineis, Paolo, Visvanathan, Kala, Vogel, Ulla, Wang, Chaoyu, Wang, Chengfeng, Wang, Junwen, Wang, Sophia S, Weiderpass, Elisabete, Weinstein, Stephanie J, Wentzensen, Nicolas, Wheeler, William, White, Emily, Wiencke, John K, Wolk, Alicja, Wolpin, Brian M, Wong, Maria Pik, Wrensch, Margaret, Wu, Chen, Wu, Tangchun, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S, Xiang, Yong-Bing, Xu, Jun, Yang, Hannah P, Yang, Pan-Chyr, Yatabe, Yasushi, Ye, Yuanqing, Yeboah, Edward D, Yin, Zhihua, Ying, Chen, Yu, Chong-Jen, Yu, Kai, Yuan, Jian-Min, Zanetti, Krista A, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Zhou, Baosen, Mirabello, Lisa, Savage, Sharon A, Kraft, Peter, Chanock, Stephen J, Yeager, Meredith, Landi, Maria Terese, Shi, Jianxin, Chatterjee, Nilanjan, and Amundadottir, Laufey T
Abstract: Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
Published: 2014
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23. A genome-wide 'pleiotropy scan' does not identify new susceptibility loci for estrogen receptor negative breast cancer

Author: Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, Canzian, Federico, Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, and Canzian, Federico
Abstract: Approximately 15-30% of all breast cancer tumors are estrogen receptor negative (ER-). Compared with ER- positive (ER+) disease they have an earlier age at onset and worse prognosis. Despite the vast number of risk variants identified for numerous cancer types, only seven loci have been unambiguously identified for ER- negative breast cancer. With the aim of identifying new susceptibility SNPs for this disease we performed a pleiotropic genome-wide association study (GWAS). We selected 3079 SNPs associated with a human complex trait or disease at genome-wide significance level (P<5x10(-8)) to perform a secondary analysis of an ER- negative GWAS from the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3), including 1998 cases and 2305 controls from prospective studies. We then tested the top ten associations (i.e. with the lowest P-values) using three additional populations with a total sample size of 3509 ER+ cases, 2543 ER- cases and 7031 healthy controls. None of the 3079 selected variants in the BPC3 ER- GWAS were significant at the adjusted threshold. 186 variants were associated with ER- breast cancer risk at a conventional threshold of P<0.05, with P-values ranging from 0.049 to 2.3 x 10(-4). None of the variants reached statistical significance in the replication phase. In conclusion, this study did not identify any novel susceptibility loci for ER-breast cancer using a "pleiotropic approach''.
Published: 2014
Full Text: View/download PDF

24. A genome-wide 'pleiotropy scan' does not identify new susceptibility loci for estrogen receptor negative breast cancer

Author: Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, Canzian, Federico, Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, and Canzian, Federico
Abstract: Approximately 15-30% of all breast cancer tumors are estrogen receptor negative (ER-). Compared with ER- positive (ER+) disease they have an earlier age at onset and worse prognosis. Despite the vast number of risk variants identified for numerous cancer types, only seven loci have been unambiguously identified for ER- negative breast cancer. With the aim of identifying new susceptibility SNPs for this disease we performed a pleiotropic genome-wide association study (GWAS). We selected 3079 SNPs associated with a human complex trait or disease at genome-wide significance level (P<5x10(-8)) to perform a secondary analysis of an ER- negative GWAS from the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3), including 1998 cases and 2305 controls from prospective studies. We then tested the top ten associations (i.e. with the lowest P-values) using three additional populations with a total sample size of 3509 ER+ cases, 2543 ER- cases and 7031 healthy controls. None of the 3079 selected variants in the BPC3 ER- GWAS were significant at the adjusted threshold. 186 variants were associated with ER- breast cancer risk at a conventional threshold of P<0.05, with P-values ranging from 0.049 to 2.3 x 10(-4). None of the variants reached statistical significance in the replication phase. In conclusion, this study did not identify any novel susceptibility loci for ER-breast cancer using a "pleiotropic approach''.
Published: 2014
Full Text: View/download PDF

25. A genome-wide 'pleiotropy scan' does not identify new susceptibility loci for estrogen receptor negative breast cancer

Author: Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, Canzian, Federico, Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, and Canzian, Federico
Abstract: Approximately 15-30% of all breast cancer tumors are estrogen receptor negative (ER-). Compared with ER- positive (ER+) disease they have an earlier age at onset and worse prognosis. Despite the vast number of risk variants identified for numerous cancer types, only seven loci have been unambiguously identified for ER- negative breast cancer. With the aim of identifying new susceptibility SNPs for this disease we performed a pleiotropic genome-wide association study (GWAS). We selected 3079 SNPs associated with a human complex trait or disease at genome-wide significance level (P<5x10(-8)) to perform a secondary analysis of an ER- negative GWAS from the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3), including 1998 cases and 2305 controls from prospective studies. We then tested the top ten associations (i.e. with the lowest P-values) using three additional populations with a total sample size of 3509 ER+ cases, 2543 ER- cases and 7031 healthy controls. None of the 3079 selected variants in the BPC3 ER- GWAS were significant at the adjusted threshold. 186 variants were associated with ER- breast cancer risk at a conventional threshold of P<0.05, with P-values ranging from 0.049 to 2.3 x 10(-4). None of the variants reached statistical significance in the replication phase. In conclusion, this study did not identify any novel susceptibility loci for ER-breast cancer using a "pleiotropic approach''.
Published: 2014
Full Text: View/download PDF

26. Post-G WAS gene-environment interplay in breast cancer : results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79 000 women

Author: Barrdahl, Myrto, Canzian, Federico, Joshi, Amit D., Travis, Ruth C., Chang-Claude, Jenny, Auer, Paul L., Gapstur, Susan M., Gaudet, Mia, Diver, W. Ryan, Henderson, Brian E., Haiman, Christopher A., Schumacher, Fredrick R., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Hoover, Robert N., Rudolph, Anja, Ziegler, Regina G., Giles, Graham G., Baglietto, Laura, Severi, Gianluca, Hankinson, Susan E., Lindstroem, Sara, Willet, Walter, Hunter, David J., Buring, Julie E., Lee, I-Min, Zhang, Shumin, Dossus, Laure, Cox, David G., Khaw, Kay-Tee, Lund, Eiliv, Naccarati, Alessio, Peeters, Petra H., Ramon Quiros, J., Riboli, Elio, Sund, Malin, Trichopoulos, Dimitrios, Prentice, Ross L., Kraft, Peter, Kaaks, Rudolf, Campa, Daniele, Barrdahl, Myrto, Canzian, Federico, Joshi, Amit D., Travis, Ruth C., Chang-Claude, Jenny, Auer, Paul L., Gapstur, Susan M., Gaudet, Mia, Diver, W. Ryan, Henderson, Brian E., Haiman, Christopher A., Schumacher, Fredrick R., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Hoover, Robert N., Rudolph, Anja, Ziegler, Regina G., Giles, Graham G., Baglietto, Laura, Severi, Gianluca, Hankinson, Susan E., Lindstroem, Sara, Willet, Walter, Hunter, David J., Buring, Julie E., Lee, I-Min, Zhang, Shumin, Dossus, Laure, Cox, David G., Khaw, Kay-Tee, Lund, Eiliv, Naccarati, Alessio, Peeters, Petra H., Ramon Quiros, J., Riboli, Elio, Sund, Malin, Trichopoulos, Dimitrios, Prentice, Ross L., Kraft, Peter, Kaaks, Rudolf, and Campa, Daniele
Abstract: We studied the interplay between 39 breast cancer (BC) risk SNPs and established BC risk (body mass index, height, age at menarche, parity, age at menopause, smoking, alcohol and family history of BC) and prognostic factors (TNM stage, tumor grade, tumor size, age at diagnosis, estrogen receptor status and progesterone receptor status) as joint determinants of BC risk. We used a nested case-control design within the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3), with 16 285 BC cases and 19 376 controls. We performed stratified analyses for both the risk and prognostic factors, testing for heterogeneity for the risk factors, and case-case comparisons for differential associations of polymorphisms by subgroups of the prognostic factors. We analyzed multiplicative interactions between the SNPs and the risk factors. Finally, we also performed a meta-analysis of the interaction ORs from BPC3 and the Breast Cancer Association Consortium. After correction for multiple testing, no significant interaction between the SNPs and the established risk factors in the BPC3 study was found. The meta-analysis showed a suggestive interaction between smoking status and SLC4A7-rs4973768 (P-interaction = 8.84 x 10(-4)) which, although not significant after considering multiple comparison, has a plausible biological explanation. In conclusion, in this study of up to almost 79 000 women we can conclusively exclude any novel major interactions between genome-wide association studies hits and the epidemiologic risk factors taken into consideration, but we propose a suggestive interaction between smoking status and SLC4A7-rs4973768 that if further replicated could help our understanding in the etiology of BC.
Published: 2014
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27. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

Author: Wang, Zhaoming, Zhu, Bin, Zhang, Mingfeng, Parikh, Hemang, Jia, Jinping, Chung, Charles C, Sampson, Joshua N, Hoskins, Jason W, Hutchinson, Amy, Burdette, Laurie, Ibrahim, Abdisamad, Hautman, Christopher, Raj, Preethi S, Abnet, Christian C, Adjei, Andrew A, Ahlbom, Anders, Albanes, Demetrius, Allen, Naomi E, Ambrosone, Christine B, Aldrich, Melinda, Amiano, Pilar, Amos, Christopher, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Arici, Cecilia, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Beane Freeman, Laura E, Berg, Christine D, Berndt, Sonja I, Bertazzi, Pier Alberto, Biritwum, Richard B, Black, Amanda, Blot, William, Boeing, Heiner, Boffetta, Paolo, Bolton, Kelly, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brennan, Paul, Brinton, Louise A, Brotzman, Michelle, Bueno-de-Mesquita, H Bas, Buring, Julie E, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Cao, Guangwen, Caporaso, Neil E, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chang, Gee-Chen, Chang, I-Shou, Chang-Claude, Jenny, Che, Xu, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chung-Hsing, Chen, Constance, Chen, Kuan-Yu, Chen, Yuh-Min, Chokkalingam, Anand P, Chu, Lisa W, Clavel-Chapelon, Francoise, Colditz, Graham A, Colt, Joanne S, Conti, David, Cook, Michael B, Cortessis, Victoria K, Crawford, E David, Cussenot, Olivier, Davis, Faith G, De Vivo, Immaculata, Deng, Xiang, Ding, Ti, Dinney, Colin P, Di Stefano, Anna Luisa, Diver, W Ryan, Duell, Eric J, Elena, Joanne W, Fan, Jin-Hu, Feigelson, Heather Spencer, Feychting, Maria, Figueroa, Jonine D, Flanagan, Adrienne M, Fraumeni, Joseph F, Freedman, Neal D, Fridley, Brooke L, Fuchs, Charles S, Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, Garcia-Closas, Montserrat, Garcia-Closas, Reina, Gastier-Foster, Julie M, Gaziano, J Michael, Gerhard, Daniela S, Giffen, Carol A, Giles, Graham G, Gillanders, Elizabeth M, Giovannucci, Edward L, Goggins, Michael, Gokgoz, Nalan, Goldstein, Alisa M, Gonzalez, Carlos, Gorlick, Richard, Greene, Mark H, Gross, Myron, Grossman, H Barton, Grubb, Robert, Gu, Jian, Guan, Peng, Haiman, Christopher A, Hallmans, Göran, Hankinson, Susan E, Harris, Curtis C, Hartge, Patricia, Hattinger, Claudia, Hayes, Richard B, He, Qincheng, Helman, Lee, Henderson, Brian E, Henriksson, Roger, Hoffman-Bolton, Judith, Hohensee, Chancellor, Holly, Elizabeth A, Hong, Yun-Chul, Hoover, Robert N, Hosgood, H Dean, Hsiao, Chin-Fu, Hsing, Ann W, Hsiung, Chao Agnes, Hu, Nan, Hu, Wei, Hu, Zhibin, Huang, Ming-Shyan, Hunter, David J, Inskip, Peter D, Ito, Hidemi, Jacobs, Eric J, Jacobs, Kevin B, Jenab, Mazda, Ji, Bu-Tian, Johansen, Christoffer, Johansson, Mattias, Johnson, Alison, Kaaks, Rudolf, Kamat, Ashish M, Kamineni, Aruna, Karagas, Margaret, Khanna, Chand, Khaw, Kay-Tee, Kim, Christopher, Kim, In-Sam, Kim, Jin Hee, Kim, Yeul Hong, Kim, Young-Chul, Kim, Young Tae, Kang, Chang Hyun, Jung, Yoo Jin, Kitahara, Cari M, Klein, Alison P, Klein, Robert, Kogevinas, Manolis, Koh, Woon-Puay, Kohno, Takashi, Kolonel, Laurence N, Kooperberg, Charles, Kratz, Christian P, Krogh, Vittorio, Kunitoh, Hideo, Kurtz, Robert C, Kurucu, Nilgun, Lan, Qing, Lathrop, Mark, Lau, Ching C, Lecanda, Fernando, Lee, Kyoung-Mu, Lee, Maxwell P, Le Marchand, Loic, Lerner, Seth P, Li, Donghui, Liao, Linda M, Lim, Wei-Yen, Lin, Dongxin, Lin, Jie, Lindstrom, Sara, Linet, Martha S, Lissowska, Jolanta, Liu, Jianjun, Ljungberg, Börje, Lloreta, Josep, Lu, Daru, Ma, Jing, Malats, Nuria, Mannisto, Satu, Marina, Neyssa, Mastrangelo, Giuseppe, Matsuo, Keitaro, McGlynn, Katherine A, McKean-Cowdin, Roberta, McNeill, Lorna H, McWilliams, Robert R, Melin, Beatrice S, Meltzer, Paul S, Mensah, James E, Miao, Xiaoping, Michaud, Dominique S, Mondul, Alison M, Moore, Lee E, Muir, Kenneth, Niwa, Shelley, Olson, Sara H, Orr, Nick, Panico, Salvatore, Park, Jae Yong, Patel, Alpa V, Patino-Garcia, Ana, Pavanello, Sofia, Peeters, Petra H M, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M, Picci, Piero, Pike, Malcolm C, Porru, Stefano, Prescott, Jennifer, Pu, Xia, Purdue, Mark P, Qiao, You-Lin, Rajaraman, Preetha, Riboli, Elio, Risch, Harvey A, Rodabough, Rebecca J, Rothman, Nathaniel, Ruder, Avima M, Ryu, Jeong-Seon, Sanson, Marc, Schned, Alan, Schumacher, Fredrick R, Schwartz, Ann G, Schwartz, Kendra L, Schwenn, Molly, Scotlandi, Katia, Seow, Adeline, Serra, Consol, Serra, Massimo, Sesso, Howard D, Severi, Gianluca, Shen, Hongbing, Shen, Min, Shete, Sanjay, Shiraishi, Kouya, Shu, Xiao-Ou, Siddiq, Afshan, Sierrasesumaga, Luis, Sierri, Sabina, Loon Sihoe, Alan Dart, Silverman, Debra T, Simon, Matthias, Southey, Melissa C, Spector, Logan, Spitz, Margaret, Stampfer, Meir, Stattin, Pär, Stern, Mariana C, Stevens, Victoria L, Stolzenberg-Solomon, Rachael Z, Stram, Daniel O, Strom, Sara S, Su, Wu-Chou, Sund, Malin, Sung, Sook Whan, Swerdlow, Anthony, Tan, Wen, Tanaka, Hideo, Tang, Wei, Tang, Ze-Zhang, Tardon, Adonina, Tay, Evelyn, Taylor, Philip R, Tettey, Yao, Thomas, David M, Tirabosco, Roberto, Tjonneland, Anne, Tobias, Geoffrey S, Toro, Jorge R, Travis, Ruth C, Trichopoulos, Dimitrios, Troisi, Rebecca, Truelove, Ann, Tsai, Ying-Huang, Tucker, Margaret A, Tumino, Rosario, Van Den Berg, David, Van Den Eeden, Stephen K, Vermeulen, Roel, Vineis, Paolo, Visvanathan, Kala, Vogel, Ulla, Wang, Chaoyu, Wang, Chengfeng, Wang, Junwen, Wang, Sophia S, Weiderpass, Elisabete, Weinstein, Stephanie J, Wentzensen, Nicolas, Wheeler, William, White, Emily, Wiencke, John K, Wolk, Alicja, Wolpin, Brian M, Wong, Maria Pik, Wrensch, Margaret, Wu, Chen, Wu, Tangchun, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S, Xiang, Yong-Bing, Xu, Jun, Yang, Hannah P, Yang, Pan-Chyr, Yatabe, Yasushi, Ye, Yuanqing, Yeboah, Edward D, Yin, Zhihua, Ying, Chen, Yu, Chong-Jen, Yu, Kai, Yuan, Jian-Min, Zanetti, Krista A, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Zhou, Baosen, Mirabello, Lisa, Savage, Sharon A, Kraft, Peter, Chanock, Stephen J, Yeager, Meredith, Landi, Maria Terese, Shi, Jianxin, Chatterjee, Nilanjan, Amundadottir, Laufey T, Wang, Zhaoming, Zhu, Bin, Zhang, Mingfeng, Parikh, Hemang, Jia, Jinping, Chung, Charles C, Sampson, Joshua N, Hoskins, Jason W, Hutchinson, Amy, Burdette, Laurie, Ibrahim, Abdisamad, Hautman, Christopher, Raj, Preethi S, Abnet, Christian C, Adjei, Andrew A, Ahlbom, Anders, Albanes, Demetrius, Allen, Naomi E, Ambrosone, Christine B, Aldrich, Melinda, Amiano, Pilar, Amos, Christopher, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Arici, Cecilia, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Beane Freeman, Laura E, Berg, Christine D, Berndt, Sonja I, Bertazzi, Pier Alberto, Biritwum, Richard B, Black, Amanda, Blot, William, Boeing, Heiner, Boffetta, Paolo, Bolton, Kelly, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brennan, Paul, Brinton, Louise A, Brotzman, Michelle, Bueno-de-Mesquita, H Bas, Buring, Julie E, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Cao, Guangwen, Caporaso, Neil E, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chang, Gee-Chen, Chang, I-Shou, Chang-Claude, Jenny, Che, Xu, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chung-Hsing, Chen, Constance, Chen, Kuan-Yu, Chen, Yuh-Min, Chokkalingam, Anand P, Chu, Lisa W, Clavel-Chapelon, Francoise, Colditz, Graham A, Colt, Joanne S, Conti, David, Cook, Michael B, Cortessis, Victoria K, Crawford, E David, Cussenot, Olivier, Davis, Faith G, De Vivo, Immaculata, Deng, Xiang, Ding, Ti, Dinney, Colin P, Di Stefano, Anna Luisa, Diver, W Ryan, Duell, Eric J, Elena, Joanne W, Fan, Jin-Hu, Feigelson, Heather Spencer, Feychting, Maria, Figueroa, Jonine D, Flanagan, Adrienne M, Fraumeni, Joseph F, Freedman, Neal D, Fridley, Brooke L, Fuchs, Charles S, Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, Garcia-Closas, Montserrat, Garcia-Closas, Reina, Gastier-Foster, Julie M, Gaziano, J Michael, Gerhard, Daniela S, Giffen, Carol A, Giles, Graham G, Gillanders, Elizabeth M, Giovannucci, Edward L, Goggins, Michael, Gokgoz, Nalan, Goldstein, Alisa M, Gonzalez, Carlos, Gorlick, Richard, Greene, Mark H, Gross, Myron, Grossman, H Barton, Grubb, Robert, Gu, Jian, Guan, Peng, Haiman, Christopher A, Hallmans, Göran, Hankinson, Susan E, Harris, Curtis C, Hartge, Patricia, Hattinger, Claudia, Hayes, Richard B, He, Qincheng, Helman, Lee, Henderson, Brian E, Henriksson, Roger, Hoffman-Bolton, Judith, Hohensee, Chancellor, Holly, Elizabeth A, Hong, Yun-Chul, Hoover, Robert N, Hosgood, H Dean, Hsiao, Chin-Fu, Hsing, Ann W, Hsiung, Chao Agnes, Hu, Nan, Hu, Wei, Hu, Zhibin, Huang, Ming-Shyan, Hunter, David J, Inskip, Peter D, Ito, Hidemi, Jacobs, Eric J, Jacobs, Kevin B, Jenab, Mazda, Ji, Bu-Tian, Johansen, Christoffer, Johansson, Mattias, Johnson, Alison, Kaaks, Rudolf, Kamat, Ashish M, Kamineni, Aruna, Karagas, Margaret, Khanna, Chand, Khaw, Kay-Tee, Kim, Christopher, Kim, In-Sam, Kim, Jin Hee, Kim, Yeul Hong, Kim, Young-Chul, Kim, Young Tae, Kang, Chang Hyun, Jung, Yoo Jin, Kitahara, Cari M, Klein, Alison P, Klein, Robert, Kogevinas, Manolis, Koh, Woon-Puay, Kohno, Takashi, Kolonel, Laurence N, Kooperberg, Charles, Kratz, Christian P, Krogh, Vittorio, Kunitoh, Hideo, Kurtz, Robert C, Kurucu, Nilgun, Lan, Qing, Lathrop, Mark, Lau, Ching C, Lecanda, Fernando, Lee, Kyoung-Mu, Lee, Maxwell P, Le Marchand, Loic, Lerner, Seth P, Li, Donghui, Liao, Linda M, Lim, Wei-Yen, Lin, Dongxin, Lin, Jie, Lindstrom, Sara, Linet, Martha S, Lissowska, Jolanta, Liu, Jianjun, Ljungberg, Börje, Lloreta, Josep, Lu, Daru, Ma, Jing, Malats, Nuria, Mannisto, Satu, Marina, Neyssa, Mastrangelo, Giuseppe, Matsuo, Keitaro, McGlynn, Katherine A, McKean-Cowdin, Roberta, McNeill, Lorna H, McWilliams, Robert R, Melin, Beatrice S, Meltzer, Paul S, Mensah, James E, Miao, Xiaoping, Michaud, Dominique S, Mondul, Alison M, Moore, Lee E, Muir, Kenneth, Niwa, Shelley, Olson, Sara H, Orr, Nick, Panico, Salvatore, Park, Jae Yong, Patel, Alpa V, Patino-Garcia, Ana, Pavanello, Sofia, Peeters, Petra H M, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M, Picci, Piero, Pike, Malcolm C, Porru, Stefano, Prescott, Jennifer, Pu, Xia, Purdue, Mark P, Qiao, You-Lin, Rajaraman, Preetha, Riboli, Elio, Risch, Harvey A, Rodabough, Rebecca J, Rothman, Nathaniel, Ruder, Avima M, Ryu, Jeong-Seon, Sanson, Marc, Schned, Alan, Schumacher, Fredrick R, Schwartz, Ann G, Schwartz, Kendra L, Schwenn, Molly, Scotlandi, Katia, Seow, Adeline, Serra, Consol, Serra, Massimo, Sesso, Howard D, Severi, Gianluca, Shen, Hongbing, Shen, Min, Shete, Sanjay, Shiraishi, Kouya, Shu, Xiao-Ou, Siddiq, Afshan, Sierrasesumaga, Luis, Sierri, Sabina, Loon Sihoe, Alan Dart, Silverman, Debra T, Simon, Matthias, Southey, Melissa C, Spector, Logan, Spitz, Margaret, Stampfer, Meir, Stattin, Pär, Stern, Mariana C, Stevens, Victoria L, Stolzenberg-Solomon, Rachael Z, Stram, Daniel O, Strom, Sara S, Su, Wu-Chou, Sund, Malin, Sung, Sook Whan, Swerdlow, Anthony, Tan, Wen, Tanaka, Hideo, Tang, Wei, Tang, Ze-Zhang, Tardon, Adonina, Tay, Evelyn, Taylor, Philip R, Tettey, Yao, Thomas, David M, Tirabosco, Roberto, Tjonneland, Anne, Tobias, Geoffrey S, Toro, Jorge R, Travis, Ruth C, Trichopoulos, Dimitrios, Troisi, Rebecca, Truelove, Ann, Tsai, Ying-Huang, Tucker, Margaret A, Tumino, Rosario, Van Den Berg, David, Van Den Eeden, Stephen K, Vermeulen, Roel, Vineis, Paolo, Visvanathan, Kala, Vogel, Ulla, Wang, Chaoyu, Wang, Chengfeng, Wang, Junwen, Wang, Sophia S, Weiderpass, Elisabete, Weinstein, Stephanie J, Wentzensen, Nicolas, Wheeler, William, White, Emily, Wiencke, John K, Wolk, Alicja, Wolpin, Brian M, Wong, Maria Pik, Wrensch, Margaret, Wu, Chen, Wu, Tangchun, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S, Xiang, Yong-Bing, Xu, Jun, Yang, Hannah P, Yang, Pan-Chyr, Yatabe, Yasushi, Ye, Yuanqing, Yeboah, Edward D, Yin, Zhihua, Ying, Chen, Yu, Chong-Jen, Yu, Kai, Yuan, Jian-Min, Zanetti, Krista A, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Zhou, Baosen, Mirabello, Lisa, Savage, Sharon A, Kraft, Peter, Chanock, Stephen J, Yeager, Meredith, Landi, Maria Terese, Shi, Jianxin, Chatterjee, Nilanjan, and Amundadottir, Laufey T
Abstract: Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
Published: 2014
Full Text: View/download PDF

28. Additive interactions between susceptibility single-nucleotide polymorphisms identified in genome-wide association studies and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium

Author: Joshi, Amit D., Lindström, Sara, Hüsing, Anika, Barrdahl, Myrto, VanderWeele, Tyler J., Campa, Daniele, Canzian, Federico, Gaudet, Mia M., Figueroa, Jonine D., Baglietto, Laura, Berg, Christine D., Buring, Julie E., Chanock, Stephen J., Chirlaque, María-Dolores, Diver, W. Ryan, Dossus, Laure, Giles, Graham G., Haiman, Christopher A., Hankinson, Susan E., Henderson, Brian E., Hoover, Robert N., Hunter, David J., Isaacs, Claudine, Kaaks, Rudolf, Kolonel, Laurence N., Krogh, Vittorio, Le Marchand, Loic, Lee, I-Min, Lund, Eiliv, McCarty, Catherine A., Overvad, Kim, Peeters, Petra H., Riboli, Elio, Schumacher, Fredrick, Severi, Gianluca, Stram, Daniel O., Sund, Malin, Thun, Michael J., Travis, Ruth C., Trichopoulos, Dimitrios, Willett, Walter C., Zhang, Shumin, Ziegler, Regina G., Kraft, Peter, Joshi, Amit D., Lindström, Sara, Hüsing, Anika, Barrdahl, Myrto, VanderWeele, Tyler J., Campa, Daniele, Canzian, Federico, Gaudet, Mia M., Figueroa, Jonine D., Baglietto, Laura, Berg, Christine D., Buring, Julie E., Chanock, Stephen J., Chirlaque, María-Dolores, Diver, W. Ryan, Dossus, Laure, Giles, Graham G., Haiman, Christopher A., Hankinson, Susan E., Henderson, Brian E., Hoover, Robert N., Hunter, David J., Isaacs, Claudine, Kaaks, Rudolf, Kolonel, Laurence N., Krogh, Vittorio, Le Marchand, Loic, Lee, I-Min, Lund, Eiliv, McCarty, Catherine A., Overvad, Kim, Peeters, Petra H., Riboli, Elio, Schumacher, Fredrick, Severi, Gianluca, Stram, Daniel O., Sund, Malin, Thun, Michael J., Travis, Ruth C., Trichopoulos, Dimitrios, Willett, Walter C., Zhang, Shumin, Ziegler, Regina G., and Kraft, Peter
Abstract: Additive interactions can have public health and etiological implications but are infrequently reported. We assessed departures from additivity on the absolute risk scale between 9 established breast cancer risk factors and 23 susceptibility single-nucleotide polymorphisms (SNPs) identified from genome-wide association studies among 10,146 non-Hispanic white breast cancer cases and 12,760 controls within the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium. We estimated the relative excess risk due to interaction and its 95% confidence interval for each pairwise combination of SNPs and nongenetic risk factors using age- and cohort-adjusted logistic regression models. After correction for multiple comparisons, we identified a statistically significant relative excess risk due to interaction (uncorrected P = 4.51 x 10(-5)) between a SNP in the DNA repair protein RAD51 homolog 2 gene (RAD51L1; rs10483813) and body mass index (weight (kg)/height (m)(2)). We also compared additive and multiplicative polygenic risk prediction models using per-allele odds ratio estimates from previous studies for breast-cancer susceptibility SNPs and observed that the multiplicative model had a substantially better goodness of fit than the additive model.
Published: 2014
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29. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.

Author: Wang, Zhaoming, Wang, Zhaoming, Zhu, Bin, Zhang, Mingfeng, Parikh, Hemang, Jia, Jinping, Chung, Charles C, Sampson, Joshua N, Hoskins, Jason W, Hutchinson, Amy, Burdette, Laurie, Ibrahim, Abdisamad, Hautman, Christopher, Raj, Preethi S, Abnet, Christian C, Adjei, Andrew A, Ahlbom, Anders, Albanes, Demetrius, Allen, Naomi E, Ambrosone, Christine B, Aldrich, Melinda, Amiano, Pilar, Amos, Christopher, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Arici, Cecilia, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Beane Freeman, Laura E, Berg, Christine D, Berndt, Sonja I, Bertazzi, Pier Alberto, Biritwum, Richard B, Black, Amanda, Blot, William, Boeing, Heiner, Boffetta, Paolo, Bolton, Kelly, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brennan, Paul, Brinton, Louise A, Brotzman, Michelle, Bueno-de-Mesquita, H Bas, Buring, Julie E, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Cao, Guangwen, Caporaso, Neil E, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chang, Gee-Chen, Chang, I-Shou, Chang-Claude, Jenny, Che, Xu, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chung-Hsing, Chen, Constance, Chen, Kuan-Yu, Chen, Yuh-Min, Chokkalingam, Anand P, Chu, Lisa W, Clavel-Chapelon, Francoise, Colditz, Graham A, Colt, Joanne S, Conti, David, Cook, Michael B, Cortessis, Victoria K, Crawford, E David, Cussenot, Olivier, Davis, Faith G, De Vivo, Immaculata, Deng, Xiang, Ding, Ti, Dinney, Colin P, Di Stefano, Anna Luisa, Diver, W Ryan, Duell, Eric J, Elena, Joanne W, Fan, Jin-Hu, Feigelson, Heather Spencer, Feychting, Maria, Figueroa, Jonine D, Flanagan, Adrienne M, Fraumeni, Joseph F, Freedman, Neal D, Fridley, Brooke L, Fuchs, Charles S, Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, Garcia-Closas, Montserrat, Wang, Zhaoming, Wang, Zhaoming, Zhu, Bin, Zhang, Mingfeng, Parikh, Hemang, Jia, Jinping, Chung, Charles C, Sampson, Joshua N, Hoskins, Jason W, Hutchinson, Amy, Burdette, Laurie, Ibrahim, Abdisamad, Hautman, Christopher, Raj, Preethi S, Abnet, Christian C, Adjei, Andrew A, Ahlbom, Anders, Albanes, Demetrius, Allen, Naomi E, Ambrosone, Christine B, Aldrich, Melinda, Amiano, Pilar, Amos, Christopher, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Arici, Cecilia, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Beane Freeman, Laura E, Berg, Christine D, Berndt, Sonja I, Bertazzi, Pier Alberto, Biritwum, Richard B, Black, Amanda, Blot, William, Boeing, Heiner, Boffetta, Paolo, Bolton, Kelly, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brennan, Paul, Brinton, Louise A, Brotzman, Michelle, Bueno-de-Mesquita, H Bas, Buring, Julie E, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Cao, Guangwen, Caporaso, Neil E, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chang, Gee-Chen, Chang, I-Shou, Chang-Claude, Jenny, Che, Xu, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chung-Hsing, Chen, Constance, Chen, Kuan-Yu, Chen, Yuh-Min, Chokkalingam, Anand P, Chu, Lisa W, Clavel-Chapelon, Francoise, Colditz, Graham A, Colt, Joanne S, Conti, David, Cook, Michael B, Cortessis, Victoria K, Crawford, E David, Cussenot, Olivier, Davis, Faith G, De Vivo, Immaculata, Deng, Xiang, Ding, Ti, Dinney, Colin P, Di Stefano, Anna Luisa, Diver, W Ryan, Duell, Eric J, Elena, Joanne W, Fan, Jin-Hu, Feigelson, Heather Spencer, Feychting, Maria, Figueroa, Jonine D, Flanagan, Adrienne M, Fraumeni, Joseph F, Freedman, Neal D, Fridley, Brooke L, Fuchs, Charles S, Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, and Garcia-Closas, Montserrat
Abstract: Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
Published: 2014

30. A genome-wide 'pleiotropy scan' does not identify new susceptibility loci for estrogen receptor negative breast cancer

Author: Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, Canzian, Federico, Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, and Canzian, Federico
Abstract: Approximately 15-30% of all breast cancer tumors are estrogen receptor negative (ER-). Compared with ER- positive (ER+) disease they have an earlier age at onset and worse prognosis. Despite the vast number of risk variants identified for numerous cancer types, only seven loci have been unambiguously identified for ER- negative breast cancer. With the aim of identifying new susceptibility SNPs for this disease we performed a pleiotropic genome-wide association study (GWAS). We selected 3079 SNPs associated with a human complex trait or disease at genome-wide significance level (P<5x10(-8)) to perform a secondary analysis of an ER- negative GWAS from the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3), including 1998 cases and 2305 controls from prospective studies. We then tested the top ten associations (i.e. with the lowest P-values) using three additional populations with a total sample size of 3509 ER+ cases, 2543 ER- cases and 7031 healthy controls. None of the 3079 selected variants in the BPC3 ER- GWAS were significant at the adjusted threshold. 186 variants were associated with ER- breast cancer risk at a conventional threshold of P<0.05, with P-values ranging from 0.049 to 2.3 x 10(-4). None of the variants reached statistical significance in the replication phase. In conclusion, this study did not identify any novel susceptibility loci for ER-breast cancer using a "pleiotropic approach''.
Published: 2014
Full Text: View/download PDF

31. A genome-wide 'pleiotropy scan' does not identify new susceptibility loci for estrogen receptor negative breast cancer

Author: Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, Canzian, Federico, Campa, Daniele, Barrdahl, Myrto, Tsilidis, Konstantinos K, Severi, Gianluca, Diver, W Ryan, Siddiq, Afshan, Chanock, Stephen, Hoover, Robert N, Ziegler, Regina G, Berg, Christine D, Buys, Saundra S, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick R, Le Marchand, Loic, Flesch-Janys, Dieter, Lindstroem, Sara, Hunter, David J, Hankinson, Susan E, Willett, Walter C, Kraft, Peter, Cox, David G, Khaw, Kay-Tee, Tjonneland, Anne, Dossus, Laure, Trichopoulos, Dimitrios, Panico, Salvatore, van Gils, Carla H, Weiderpass, Elisabete, Barricarte, Aurelio, Sund, Malin, Gaudet, Mia M, Giles, Graham, Southey, Melissa, Baglietto, Laura, Chang-Claude, Jenny, Kaaks, Rudolf, and Canzian, Federico
Abstract: Approximately 15-30% of all breast cancer tumors are estrogen receptor negative (ER-). Compared with ER- positive (ER+) disease they have an earlier age at onset and worse prognosis. Despite the vast number of risk variants identified for numerous cancer types, only seven loci have been unambiguously identified for ER- negative breast cancer. With the aim of identifying new susceptibility SNPs for this disease we performed a pleiotropic genome-wide association study (GWAS). We selected 3079 SNPs associated with a human complex trait or disease at genome-wide significance level (P<5x10(-8)) to perform a secondary analysis of an ER- negative GWAS from the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3), including 1998 cases and 2305 controls from prospective studies. We then tested the top ten associations (i.e. with the lowest P-values) using three additional populations with a total sample size of 3509 ER+ cases, 2543 ER- cases and 7031 healthy controls. None of the 3079 selected variants in the BPC3 ER- GWAS were significant at the adjusted threshold. 186 variants were associated with ER- breast cancer risk at a conventional threshold of P<0.05, with P-values ranging from 0.049 to 2.3 x 10(-4). None of the variants reached statistical significance in the replication phase. In conclusion, this study did not identify any novel susceptibility loci for ER-breast cancer using a "pleiotropic approach''.
Published: 2014
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32. Detectable clonal mosaicism and its relationship to aging and cancer

Author: Jacobs, Kevin B., Yeager, Meredith, Zhou, Weiyin, Wacholder, Sholom, Wang, Zhaoming, Rodriguez-Santiago, Benjamin, Hutchinson, Amy, Deng, Xiang, Liu, Chenwei, Horner, Marie-Josephe, Cullen, Michael, Epstein, Caroline G., Burdett, Laurie, Dean, Michael C., Chatterjee, Nilanjan, Sampson, Joshua, Chung, Charles C., Kovaks, Joseph, Gapstur, Susan M., Stevens, Victoria L., Teras, Lauren T., Gaudet, Mia M., Albanes, Demetrius, Weinstein, Stephanie J., Virtamo, Jarmo, Taylor, Philip R., Freedman, Neal D., Abnet, Christian C., Goldstein, Alisa M., Hu, Nan, Yu, Kai, Yuan, Jian-Min, Liao, Linda, Ding, Ti, Qiao, You-Lin, Gao, Yu-Tang, Koh, Woon-Puay, Xiang, Yong-Bing, Tang, Ze-Zhong, Fan, Jin-Hu, Aldrich, Melinda C., Amos, Christopher, Blot, William J., Bock, Cathryn H., Gillanders, Elizabeth M., Harris, Curtis C., Haiman, Christopher A., Henderson, Brian E., Kolonel, Laurence N., Le Marchand, Loic, McNeill, Lorna H., Rybicki, Benjamin A., Schwartz, Ann G., Signorello, Lisa B., Spitz, Margaret R., Wiencke, John K., Wrensch, Margaret, Wu, Xifeng, Zanetti, Krista A., Ziegler, Regina G., Figueroa, Jonine D., Garcia-Closas, Montserrat, Malats, Nuria, Marenne, Gaelle, Prokunina-Olsson, Ludmila, Baris, Dalsu, Schwenn, Molly, Johnson, Alison, Landi, Maria Teresa, Goldin, Lynn, Consonni, Dario, Bertazzi, Pier Alberto, Rotunno, Melissa, Rajaraman, Preetha, Andersson, Ulrika, Freeman, Laura E. Beane, Berg, Christine D., Buring, Julie E., Butler, Mary A., Carreon, Tania, Feychting, Maria, Ahlbom, Anders, Gaziano, J. Michael, Giles, Graham G., Hallmans, Goran, Hankinson, Susan E., Hartge, Patricia, Henriksson, Roger, Inskip, Peter D., Johansen, Christoffer, Landgren, Annelie, McKean-Cowdin, Roberta, Michaud, Dominique S., Melin, Beatrice S., Peters, Ulrike, Ruder, Avima M., Sesso, Howard D., Severi, Gianluca, Shu, Xiao-Ou, Visvanathan, Kala, White, Emily, Wolk, Alicja, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Silverman, Debra T., Kogevinas, Manolis, Gonzalez, Juan R., Villa, Olaya, Li, Donghui, Duell, Eric J., Risch, Harvey A., Olson, Sara H., Kooperberg, Charles, Wolpin, Brian M., Jiao, Li, Hassan, Manal, Wheeler, William, Arslan, Alan A., Bueno-de-Mesquita, H. Bas, Fuchs, Charles S., Gallinger, Steven, Gross, Myron D., Holly, Elizabeth A., Klein, Alison P., LaCroix, Andrea, Mandelson, Margaret T., Petersen, Gloria, Boutron-Ruault, Marie-Christine, Bracci, Paige M., Canzian, Federico, Chang, Kenneth, Cotterchio, Michelle, Giovannucci, Edward L., Goggins, Michael, Bolton, Judith A. Hoffman, Jenab, Mazda, Khaw, Kay-Tee, Krogh, Vittorio, Kurtz, Robert C., McWilliams, Robert R., Mendelsohn, Julie B., Rabe, Kari G., Riboli, Elio, Tjonneland, Anne, Tobias, Geoffrey S., Trichopoulos, Dimitrios, Elena, Joanne W., Yu, Herbert, Amundadottir, Laufey, Stolzenberg-Solomon, Rachael Z., Kraft, Peter, Schumacher, Fredrick, Stram, Daniel, Savage, Sharon A., Mirabello, Lisa, Andrulis, Irene L., Wunder, Jay S., Patino Garcia, Ana, Sierrasesumaga, Luis, Barkauskas, Donald A., Gorlick, Richard G., Purdue, Mark, Chow, Wong-Ho, Moore, Lee E., Schwartz, Kendra L., Davis, Faith G., Hsing, Ann W., Berndt, Sonja I., Black, Amanda, Wentzensen, Nicolas, Brinton, Louise A., Lissowska, Jolanta, Peplonska, Beata, McGlynn, Katherine A., Cook, Michael B., Graubard, Barry I., Kratz, Christian P., Greene, Mark H., Erickson, Ralph L., Hunter, David J., Thomas, Gilles, Hoover, Robert N., Real, Francisco X., Fraumeni, Joseph F., Jr., Caporaso, Neil E., Tucker, Margaret, Rothman, Nathaniel, Perez-Jurado, Luis A., Chanock, Stephen J., Jacobs, Kevin B., Yeager, Meredith, Zhou, Weiyin, Wacholder, Sholom, Wang, Zhaoming, Rodriguez-Santiago, Benjamin, Hutchinson, Amy, Deng, Xiang, Liu, Chenwei, Horner, Marie-Josephe, Cullen, Michael, Epstein, Caroline G., Burdett, Laurie, Dean, Michael C., Chatterjee, Nilanjan, Sampson, Joshua, Chung, Charles C., Kovaks, Joseph, Gapstur, Susan M., Stevens, Victoria L., Teras, Lauren T., Gaudet, Mia M., Albanes, Demetrius, Weinstein, Stephanie J., Virtamo, Jarmo, Taylor, Philip R., Freedman, Neal D., Abnet, Christian C., Goldstein, Alisa M., Hu, Nan, Yu, Kai, Yuan, Jian-Min, Liao, Linda, Ding, Ti, Qiao, You-Lin, Gao, Yu-Tang, Koh, Woon-Puay, Xiang, Yong-Bing, Tang, Ze-Zhong, Fan, Jin-Hu, Aldrich, Melinda C., Amos, Christopher, Blot, William J., Bock, Cathryn H., Gillanders, Elizabeth M., Harris, Curtis C., Haiman, Christopher A., Henderson, Brian E., Kolonel, Laurence N., Le Marchand, Loic, McNeill, Lorna H., Rybicki, Benjamin A., Schwartz, Ann G., Signorello, Lisa B., Spitz, Margaret R., Wiencke, John K., Wrensch, Margaret, Wu, Xifeng, Zanetti, Krista A., Ziegler, Regina G., Figueroa, Jonine D., Garcia-Closas, Montserrat, Malats, Nuria, Marenne, Gaelle, Prokunina-Olsson, Ludmila, Baris, Dalsu, Schwenn, Molly, Johnson, Alison, Landi, Maria Teresa, Goldin, Lynn, Consonni, Dario, Bertazzi, Pier Alberto, Rotunno, Melissa, Rajaraman, Preetha, Andersson, Ulrika, Freeman, Laura E. Beane, Berg, Christine D., Buring, Julie E., Butler, Mary A., Carreon, Tania, Feychting, Maria, Ahlbom, Anders, Gaziano, J. Michael, Giles, Graham G., Hallmans, Goran, Hankinson, Susan E., Hartge, Patricia, Henriksson, Roger, Inskip, Peter D., Johansen, Christoffer, Landgren, Annelie, McKean-Cowdin, Roberta, Michaud, Dominique S., Melin, Beatrice S., Peters, Ulrike, Ruder, Avima M., Sesso, Howard D., Severi, Gianluca, Shu, Xiao-Ou, Visvanathan, Kala, White, Emily, Wolk, Alicja, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Silverman, Debra T., Kogevinas, Manolis, Gonzalez, Juan R., Villa, Olaya, Li, Donghui, Duell, Eric J., Risch, Harvey A., Olson, Sara H., Kooperberg, Charles, Wolpin, Brian M., Jiao, Li, Hassan, Manal, Wheeler, William, Arslan, Alan A., Bueno-de-Mesquita, H. Bas, Fuchs, Charles S., Gallinger, Steven, Gross, Myron D., Holly, Elizabeth A., Klein, Alison P., LaCroix, Andrea, Mandelson, Margaret T., Petersen, Gloria, Boutron-Ruault, Marie-Christine, Bracci, Paige M., Canzian, Federico, Chang, Kenneth, Cotterchio, Michelle, Giovannucci, Edward L., Goggins, Michael, Bolton, Judith A. Hoffman, Jenab, Mazda, Khaw, Kay-Tee, Krogh, Vittorio, Kurtz, Robert C., McWilliams, Robert R., Mendelsohn, Julie B., Rabe, Kari G., Riboli, Elio, Tjonneland, Anne, Tobias, Geoffrey S., Trichopoulos, Dimitrios, Elena, Joanne W., Yu, Herbert, Amundadottir, Laufey, Stolzenberg-Solomon, Rachael Z., Kraft, Peter, Schumacher, Fredrick, Stram, Daniel, Savage, Sharon A., Mirabello, Lisa, Andrulis, Irene L., Wunder, Jay S., Patino Garcia, Ana, Sierrasesumaga, Luis, Barkauskas, Donald A., Gorlick, Richard G., Purdue, Mark, Chow, Wong-Ho, Moore, Lee E., Schwartz, Kendra L., Davis, Faith G., Hsing, Ann W., Berndt, Sonja I., Black, Amanda, Wentzensen, Nicolas, Brinton, Louise A., Lissowska, Jolanta, Peplonska, Beata, McGlynn, Katherine A., Cook, Michael B., Graubard, Barry I., Kratz, Christian P., Greene, Mark H., Erickson, Ralph L., Hunter, David J., Thomas, Gilles, Hoover, Robert N., Real, Francisco X., Fraumeni, Joseph F., Jr., Caporaso, Neil E., Tucker, Margaret, Rothman, Nathaniel, Perez-Jurado, Luis A., and Chanock, Stephen J.
Abstract: In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of > 2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 x 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 x 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.
Published: 2012
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33. A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

Author: Wu, Xifeng, Scelo, Ghislaine, Purdue, Mark P., Rothman, Nathaniel, Johansson, Mattias, Ye, Yuanqing, Wang, Zhaoming, Zelenika, Diana, Moore, Lee E., Wood, Christopher G., Prokhortchouk, Egor, Gaborieau, Valerie, Jacobs, Kevin B., Chow, Wong-Ho, Toro, Jorge R., Zaridze, David, Lin, Jie, Lubinski, Jan, Trubicka, Joanna, Szeszenia-Dabrowska, Neonilia, Lissowska, Jolanta, Rudnai, Peter, Fabianova, Eleonora, Mates, Dana, Jinga, Viorel, Bencko, Vladimir, Slamova, Alena, Holcatova, Ivana, Navratilova, Marie, Janout, Vladimir, Boffetta, Paolo, Colt, Joanne S., Davis, Faith G., Schwartz, Kendra L., Banks, Rosamonde E., Selby, Peter J., Harnden, Patricia, Berg, Christine D., Hsing, Ann W., Grubb, Robert L., III, Boeing, Heiner, Vineis, Paolo, Clavel-Chapelon, Francoise, Palli, Domenico, Tumino, Rosario, Krogh, Vittorio, Panico, Salvatore, Duell, Eric J., Ramon Quiros, Jose, Sanchez, Maria-Jose, Navarro, Carmen, Ardanaz, Eva, Dorronsoro, Miren, Khaw, Kay-Tee, Allen, Naomi E., Bueno-de-Mesquita, H. Bas, Peeters, Petra H. M., Trichopoulos, Dimitrios, Linseisen, Jakob, Ljungberg, Börje, Overvad, Kim, Tjonneland, Anne, Romieu, Isabelle, Riboli, Elio, Stevens, Victoria L., Thun, Michael J., Diver, W. Ryan, Gapstur, Susan M., Pharoah, Paul D., Easton, Douglas F., Albanes, Demetrius, Virtamo, Jarmo, Vatten, Lars, Hveem, Kristian, Fletcher, Tony, Koppova, Kvetoslava, Cussenot, Olivier, Cancel-Tassin, Geraldine, Benhamou, Simone, Hildebrandt, Michelle A., Pu, Xia, Foglio, Mario, Lechner, Doris, Hutchinson, Amy, Yeager, Meredith, Fraumeni, Joseph F., Jr., Lathrop, Mark, Skryabin, Konstantin G., McKay, James D., Gu, Jian, Brennan, Paul, Chanock, Stephen J., Wu, Xifeng, Scelo, Ghislaine, Purdue, Mark P., Rothman, Nathaniel, Johansson, Mattias, Ye, Yuanqing, Wang, Zhaoming, Zelenika, Diana, Moore, Lee E., Wood, Christopher G., Prokhortchouk, Egor, Gaborieau, Valerie, Jacobs, Kevin B., Chow, Wong-Ho, Toro, Jorge R., Zaridze, David, Lin, Jie, Lubinski, Jan, Trubicka, Joanna, Szeszenia-Dabrowska, Neonilia, Lissowska, Jolanta, Rudnai, Peter, Fabianova, Eleonora, Mates, Dana, Jinga, Viorel, Bencko, Vladimir, Slamova, Alena, Holcatova, Ivana, Navratilova, Marie, Janout, Vladimir, Boffetta, Paolo, Colt, Joanne S., Davis, Faith G., Schwartz, Kendra L., Banks, Rosamonde E., Selby, Peter J., Harnden, Patricia, Berg, Christine D., Hsing, Ann W., Grubb, Robert L., III, Boeing, Heiner, Vineis, Paolo, Clavel-Chapelon, Francoise, Palli, Domenico, Tumino, Rosario, Krogh, Vittorio, Panico, Salvatore, Duell, Eric J., Ramon Quiros, Jose, Sanchez, Maria-Jose, Navarro, Carmen, Ardanaz, Eva, Dorronsoro, Miren, Khaw, Kay-Tee, Allen, Naomi E., Bueno-de-Mesquita, H. Bas, Peeters, Petra H. M., Trichopoulos, Dimitrios, Linseisen, Jakob, Ljungberg, Börje, Overvad, Kim, Tjonneland, Anne, Romieu, Isabelle, Riboli, Elio, Stevens, Victoria L., Thun, Michael J., Diver, W. Ryan, Gapstur, Susan M., Pharoah, Paul D., Easton, Douglas F., Albanes, Demetrius, Virtamo, Jarmo, Vatten, Lars, Hveem, Kristian, Fletcher, Tony, Koppova, Kvetoslava, Cussenot, Olivier, Cancel-Tassin, Geraldine, Benhamou, Simone, Hildebrandt, Michelle A., Pu, Xia, Foglio, Mario, Lechner, Doris, Hutchinson, Amy, Yeager, Meredith, Fraumeni, Joseph F., Jr., Lathrop, Mark, Skryabin, Konstantin G., McKay, James D., Gu, Jian, Brennan, Paul, and Chanock, Stephen J.
Abstract: Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome- wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 x 10(-10) and P = 6.07 x 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR.
Published: 2012
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34. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Author: Siddiq, Afshan, Couch, Fergus J., Chen, Gary K., Lindstrom, Sara, Eccles, Diana, Millikan, Robert C., Michailidou, Kyriaki, Stram, Daniel O., Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B., Aittomaki, Kristiina, Amiano, Pilar, Apicella, Carmel, Baglietto, Laura, Bandera, Elisa V., Beckmann, Matthias W., Berg, Christine D., Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M., Buring, Julie E., Buys, Saundra S., Campa, Daniele, Carpenter, Jane E., Chasman, Daniel I., Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Francoise, Cox, Angela, Cross, Simon S., Czene, Kamila, Deming, Sandra L., Diasio, Robert B., Diver, W. Ryan, Dunning, Alison M., Durcan, Lorraine, Ekici, Arif B., Fasching, Peter A., Feigelson, Heather Spencer, Fejerman, Laura, Figueroa, Jonine D., Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M., Gerty, Susan M., Rodriguez-Gil, Jorge L., Giles, Graham G., van Gils, Carla H., Godwin, Andrew K., Graham, Nikki, Greco, Dario, Hall, Per, Hankinson, Susan E., Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N., Hopper, John L., Hu, Jennifer J., Huntsman, Scott, Ingles, Sue A., Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B., John, Esther M., Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N., Coetzee, Gerhard A., Lathrop, Mark, Le Marchand, Loic, Lee, Adam M., Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G., McLean, Catriona A., Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R., Montgomery, Grant W., Mueller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J., Olswold, Curtis, Overvad, Kim, Palli, Domenico, Park, Daniel J., Palmer, Julie R., Pathak, Harsh, Peto, Julian, Pharoah, Paul, Rahman, Nazneen, Rivadeneira, Fernando, Schmidt, Daniel F., Schmutzler, Rita K., Slager, Susan, Southey, Melissa C., Stevens, Kristen N., Sinn, Hans-Peter, Press, Michael F., Ross, Eric, Riboli, Elio, Ridker, Paul M., Schumacher, Fredrick R., Severi, Gianluca, Silva, Isabel dos Santos, Stone, Jennifer, Sund, Malin, Tapper, William J., Thun, Michael J., Travis, Ruth C., Turnbull, Clare, Uitterlinden, Andre G., Waisfisz, Quinten, Wang, Xianshu, Wang, Zhaoming, Weaver, JoEllen, Schulz-Wendtland, Ruediger, Wilkens, Lynne R., Van Den Berg, David, Zheng, Wei, Ziegler, Regina G., Ziv, Elad, Nevanlinna, Heli, Easton, Douglas F., Hunter, David J., Henderson, Brian E., Chanock, Stephen J., Garcia-Closas, Montserrat, Kraft, Peter, Haiman, Christopher A., Vachon, Celine M., Siddiq, Afshan, Couch, Fergus J., Chen, Gary K., Lindstrom, Sara, Eccles, Diana, Millikan, Robert C., Michailidou, Kyriaki, Stram, Daniel O., Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B., Aittomaki, Kristiina, Amiano, Pilar, Apicella, Carmel, Baglietto, Laura, Bandera, Elisa V., Beckmann, Matthias W., Berg, Christine D., Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M., Buring, Julie E., Buys, Saundra S., Campa, Daniele, Carpenter, Jane E., Chasman, Daniel I., Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Francoise, Cox, Angela, Cross, Simon S., Czene, Kamila, Deming, Sandra L., Diasio, Robert B., Diver, W. Ryan, Dunning, Alison M., Durcan, Lorraine, Ekici, Arif B., Fasching, Peter A., Feigelson, Heather Spencer, Fejerman, Laura, Figueroa, Jonine D., Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M., Gerty, Susan M., Rodriguez-Gil, Jorge L., Giles, Graham G., van Gils, Carla H., Godwin, Andrew K., Graham, Nikki, Greco, Dario, Hall, Per, Hankinson, Susan E., Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N., Hopper, John L., Hu, Jennifer J., Huntsman, Scott, Ingles, Sue A., Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B., John, Esther M., Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N., Coetzee, Gerhard A., Lathrop, Mark, Le Marchand, Loic, Lee, Adam M., Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G., McLean, Catriona A., Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R., Montgomery, Grant W., Mueller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J., Olswold, Curtis, Overvad, Kim, Palli, Domenico, Park, Daniel J., Palmer, Julie R., Pathak, Harsh, Peto, Julian, Pharoah, Paul, Rahman, Nazneen, Rivadeneira, Fernando, Schmidt, Daniel F., Schmutzler, Rita K., Slager, Susan, Southey, Melissa C., Stevens, Kristen N., Sinn, Hans-Peter, Press, Michael F., Ross, Eric, Riboli, Elio, Ridker, Paul M., Schumacher, Fredrick R., Severi, Gianluca, Silva, Isabel dos Santos, Stone, Jennifer, Sund, Malin, Tapper, William J., Thun, Michael J., Travis, Ruth C., Turnbull, Clare, Uitterlinden, Andre G., Waisfisz, Quinten, Wang, Xianshu, Wang, Zhaoming, Weaver, JoEllen, Schulz-Wendtland, Ruediger, Wilkens, Lynne R., Van Den Berg, David, Zheng, Wei, Ziegler, Regina G., Ziv, Elad, Nevanlinna, Heli, Easton, Douglas F., Hunter, David J., Henderson, Brian E., Chanock, Stephen J., Garcia-Closas, Montserrat, Kraft, Peter, Haiman, Christopher A., and Vachon, Celine M.
Abstract: Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P 1 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR 1.16; P 1.1 10(8)) but showed a weaker association with overall breast cancer (OR 1.08, P 1.3 10(6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR 1.01, P 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR 1.12; P 1.1 10(9)), and with both ER-positive (OR 1.09; P 1.5 10(5)) and ER-negative (OR 1.16, P 2.5 10(7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.
Published: 2012
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35. Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status

Author: Huesing, Anika, Canzian, Federico, Beckmann, Lars, Garcia-Closas, Montserrat, Diver, W. Ryan, Thun, Michael J., Berg, Christine D., Hoover, Robert N., Ziegler, Regina G., Figueroa, Jonine D., Isaacs, Claudine, Olsen, Anja, Viallon, Vivian, Boeing, Heiner, Masala, Giovanna, Trichopoulos, Dimitrios, Peeters, Petra H. M., Lund, Eiliv, Ardanaz, Eva, Khaw, Kay-Tee, Lenner, Per, Kolonel, Laurence N., Stram, Daniel O., Le Marchand, Loic, McCarty, Catherine A., Buring, Julie E., Lee, I-Min, Zhang, Shumin, Lindstroem, Sara, Hankinson, Susan E., Riboli, Elio, Hunter, David J., Henderson, Brian E., Chanock, Stephen J., Haiman, Christopher A., Kraft, Peter, Kaaks, Rudolf, Huesing, Anika, Canzian, Federico, Beckmann, Lars, Garcia-Closas, Montserrat, Diver, W. Ryan, Thun, Michael J., Berg, Christine D., Hoover, Robert N., Ziegler, Regina G., Figueroa, Jonine D., Isaacs, Claudine, Olsen, Anja, Viallon, Vivian, Boeing, Heiner, Masala, Giovanna, Trichopoulos, Dimitrios, Peeters, Petra H. M., Lund, Eiliv, Ardanaz, Eva, Khaw, Kay-Tee, Lenner, Per, Kolonel, Laurence N., Stram, Daniel O., Le Marchand, Loic, McCarty, Catherine A., Buring, Julie E., Lee, I-Min, Zhang, Shumin, Lindstroem, Sara, Hankinson, Susan E., Riboli, Elio, Hunter, David J., Henderson, Brian E., Chanock, Stephen J., Haiman, Christopher A., Kraft, Peter, and Kaaks, Rudolf
Abstract: Objective There is increasing interest in adding common genetic variants identified through genome wide association studies (GWAS) to breast cancer risk prediction models. First results from such models showed modest benefits in terms of risk discrimination. Heterogeneity of breast cancer as defined by hormone-receptor status has not been considered in this context. In this study we investigated the predictive capacity of 32 GWAS-detected common variants for breast cancer risk, alone and in combination with classical risk factors, and for tumours with different hormone receptor status. Material and methods Within the Breast and Prostate Cancer Cohort Consortium, we analysed 6009 invasive breast cancer cases and 7827 matched controls of European ancestry, with data on classical breast cancer risk factors and 32 common gene variants identified through GWAS. Discriminatory ability with respect to breast cancer of specific hormone receptor-status was assessed with the age adjusted and cohort-adjusted concordance statistic (AUROC(a)). Absolute risk scores were calculated with external reference data. Integrated discrimination improvement was used to measure improvements in risk prediction. Results We found a small but steady increase in discriminatory ability with increasing numbers of genetic variants included in the model (difference in AUROC(a) going from 2.7% to 4%). Discriminatory ability for all models varied strongly by hormone receptor status. Discussion and conclusions Adding information on common polymorphisms provides small but statistically significant improvements in the quality of breast cancer risk prediction models. We consistently observed better performance for receptor-positive cases, but the gain in discriminatory quality is not sufficient for clinical application.
Published: 2012
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36. Detectable clonal mosaicism and its relationship to aging and cancer.

Author: Jacobs, Kevin B, Yeager, Meredith, Zhou, Weiyin, Wacholder, Sholom, Wang, Zhaoming, Rodriguez-Santiago, Benjamin, Hutchinson, Amy, Deng, Xiang, Liu, Chenwei, Horner, Marie-Josephe, Cullen, Michael, Epstein, Caroline G, Burdett, Laurie, Dean, Michael C, Chatterjee, Nilanjan, Sampson, Joshua, Chung, Charles C, Kovaks, Joseph, Gapstur, Susan M, Stevens, Victoria L, Teras, Lauren T, Gaudet, Mia M, Albanes, Demetrius, Weinstein, Stephanie J, Virtamo, Jarmo, Taylor, Philip R, Freedman, Neal D, Abnet, Christian C, Goldstein, Alisa M, Hu, Nan, Yu, Kai, Yuan, Jian-Min, Liao, Linda, Ding, Ti, Qiao, You-Lin, Gao, Yu-Tang, Koh, Woon-Puay, Xiang, Yong-Bing, Tang, Ze-Zhong, Fan, Jin-Hu, Aldrich, Melinda C, Amos, Christopher, Blot, William J, Bock, Cathryn H, Gillanders, Elizabeth M, Harris, Curtis C, Haiman, Christopher A, Henderson, Brian E, Kolonel, Laurence N, Le Marchand, Loic, McNeill, Lorna H, Rybicki, Benjamin A, Schwartz, Ann G, Signorello, Lisa B, Spitz, Margaret R, Wiencke, John K, Wrensch, Margaret, Wu, Xifeng, Zanetti, Krista A, Ziegler, Regina G, Figueroa, Jonine D, Garcia-Closas, Montserrat, Malats, Nuria, Marenne, Gaelle, Prokunina-Olsson, Ludmila, Baris, Dalsu, Schwenn, Molly, Johnson, Alison, Landi, Maria Teresa, Goldin, Lynn, Consonni, Dario, Bertazzi, Pier Alberto, Rotunno, Melissa, Rajaraman, Preetha, Andersson, Ulrika, Freeman, Laura E Beane, Berg, Christine D, Buring, Julie E, Butler, Mary A, Carreon, Tania, Feychting, Maria, Ahlbom, Anders, Gaziano, J Michael, Giles, Graham G, Hallmans, Göran, Hankinson, Susan E, Hartge, Patricia, Henriksson, Roger, Inskip, Peter D, Johansen, Christoffer, Landgren, Annelie, McKean-Cowdin, Roberta, Michaud, Dominique S, Melin, Beatrice S, Peters, Ulrike, Ruder, Avima M, Sesso, Howard D, Severi, Gianluca, Shu, Xiao-Ou, Visvanathan, Kala, White, Emily, Wolk, Alicja, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Silverman, Debra T, Kogevinas, Manolis, Gonzalez, Juan R, Villa, Olaya, Li, Donghui, Duell, Eric J, Risch, Harvey A, Olson, Sara H, Kooperberg, Charles, Wolpin, Brian M, Jiao, Li, Hassan, Manal, Wheeler, William, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Fuchs, Charles S, Gallinger, Steven, Gross, Myron D, Holly, Elizabeth A, Klein, Alison P, Lacroix, Andrea, Mandelson, Margaret T, Petersen, Gloria, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Canzian, Federico, Chang, Kenneth, Cotterchio, Michelle, Giovannucci, Edward L, Goggins, Michael, Bolton, Judith A Hoffman, Jenab, Mazda, Khaw, Kay-Tee, Krogh, Vittorio, Kurtz, Robert C, McWilliams, Robert R, Mendelsohn, Julie B, Rabe, Kari G, Riboli, Elio, Tjønneland, Anne, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Elena, Joanne W, Yu, Herbert, Amundadottir, Laufey, Stolzenberg-Solomon, Rachael Z, Kraft, Peter, Schumacher, Fredrick, Stram, Daniel, Savage, Sharon A, Mirabello, Lisa, Andrulis, Irene L, Wunder, Jay S, García, Ana Patiño, Sierrasesúmaga, Luis, Barkauskas, Donald A, Gorlick, Richard G, Purdue, Mark, Chow, Wong-Ho, Moore, Lee E, Schwartz, Kendra L, Davis, Faith G, Hsing, Ann W, Berndt, Sonja I, Black, Amanda, Wentzensen, Nicolas, Brinton, Louise A, Lissowska, Jolanta, Peplonska, Beata, McGlynn, Katherine A, Cook, Michael B, Graubard, Barry I, Kratz, Christian P, Greene, Mark H, Erickson, Ralph L, Hunter, David J, Thomas, Gilles, Hoover, Robert N, Real, Francisco X, Fraumeni, Joseph F, Caporaso, Neil E, Tucker, Margaret, Rothman, Nathaniel, Pérez-Jurado, Luis A, Chanock, Stephen J, Jacobs, Kevin B, Yeager, Meredith, Zhou, Weiyin, Wacholder, Sholom, Wang, Zhaoming, Rodriguez-Santiago, Benjamin, Hutchinson, Amy, Deng, Xiang, Liu, Chenwei, Horner, Marie-Josephe, Cullen, Michael, Epstein, Caroline G, Burdett, Laurie, Dean, Michael C, Chatterjee, Nilanjan, Sampson, Joshua, Chung, Charles C, Kovaks, Joseph, Gapstur, Susan M, Stevens, Victoria L, Teras, Lauren T, Gaudet, Mia M, Albanes, Demetrius, Weinstein, Stephanie J, Virtamo, Jarmo, Taylor, Philip R, Freedman, Neal D, Abnet, Christian C, Goldstein, Alisa M, Hu, Nan, Yu, Kai, Yuan, Jian-Min, Liao, Linda, Ding, Ti, Qiao, You-Lin, Gao, Yu-Tang, Koh, Woon-Puay, Xiang, Yong-Bing, Tang, Ze-Zhong, Fan, Jin-Hu, Aldrich, Melinda C, Amos, Christopher, Blot, William J, Bock, Cathryn H, Gillanders, Elizabeth M, Harris, Curtis C, Haiman, Christopher A, Henderson, Brian E, Kolonel, Laurence N, Le Marchand, Loic, McNeill, Lorna H, Rybicki, Benjamin A, Schwartz, Ann G, Signorello, Lisa B, Spitz, Margaret R, Wiencke, John K, Wrensch, Margaret, Wu, Xifeng, Zanetti, Krista A, Ziegler, Regina G, Figueroa, Jonine D, Garcia-Closas, Montserrat, Malats, Nuria, Marenne, Gaelle, Prokunina-Olsson, Ludmila, Baris, Dalsu, Schwenn, Molly, Johnson, Alison, Landi, Maria Teresa, Goldin, Lynn, Consonni, Dario, Bertazzi, Pier Alberto, Rotunno, Melissa, Rajaraman, Preetha, Andersson, Ulrika, Freeman, Laura E Beane, Berg, Christine D, Buring, Julie E, Butler, Mary A, Carreon, Tania, Feychting, Maria, Ahlbom, Anders, Gaziano, J Michael, Giles, Graham G, Hallmans, Göran, Hankinson, Susan E, Hartge, Patricia, Henriksson, Roger, Inskip, Peter D, Johansen, Christoffer, Landgren, Annelie, McKean-Cowdin, Roberta, Michaud, Dominique S, Melin, Beatrice S, Peters, Ulrike, Ruder, Avima M, Sesso, Howard D, Severi, Gianluca, Shu, Xiao-Ou, Visvanathan, Kala, White, Emily, Wolk, Alicja, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Silverman, Debra T, Kogevinas, Manolis, Gonzalez, Juan R, Villa, Olaya, Li, Donghui, Duell, Eric J, Risch, Harvey A, Olson, Sara H, Kooperberg, Charles, Wolpin, Brian M, Jiao, Li, Hassan, Manal, Wheeler, William, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Fuchs, Charles S, Gallinger, Steven, Gross, Myron D, Holly, Elizabeth A, Klein, Alison P, Lacroix, Andrea, Mandelson, Margaret T, Petersen, Gloria, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Canzian, Federico, Chang, Kenneth, Cotterchio, Michelle, Giovannucci, Edward L, Goggins, Michael, Bolton, Judith A Hoffman, Jenab, Mazda, Khaw, Kay-Tee, Krogh, Vittorio, Kurtz, Robert C, McWilliams, Robert R, Mendelsohn, Julie B, Rabe, Kari G, Riboli, Elio, Tjønneland, Anne, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Elena, Joanne W, Yu, Herbert, Amundadottir, Laufey, Stolzenberg-Solomon, Rachael Z, Kraft, Peter, Schumacher, Fredrick, Stram, Daniel, Savage, Sharon A, Mirabello, Lisa, Andrulis, Irene L, Wunder, Jay S, García, Ana Patiño, Sierrasesúmaga, Luis, Barkauskas, Donald A, Gorlick, Richard G, Purdue, Mark, Chow, Wong-Ho, Moore, Lee E, Schwartz, Kendra L, Davis, Faith G, Hsing, Ann W, Berndt, Sonja I, Black, Amanda, Wentzensen, Nicolas, Brinton, Louise A, Lissowska, Jolanta, Peplonska, Beata, McGlynn, Katherine A, Cook, Michael B, Graubard, Barry I, Kratz, Christian P, Greene, Mark H, Erickson, Ralph L, Hunter, David J, Thomas, Gilles, Hoover, Robert N, Real, Francisco X, Fraumeni, Joseph F, Caporaso, Neil E, Tucker, Margaret, Rothman, Nathaniel, Pérez-Jurado, Luis A, and Chanock, Stephen J
Abstract: In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.
Published: 2012
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37. Cancer screening: the journey from epidemiology to policy.

Author: Deppen, Stephen A, Deppen, Stephen A, Aldrich, Melinda C, Hartge, Patricia, Berg, Christine D, Colditz, Graham A, Petitti, Diana B, Hiatt, Robert A, Deppen, Stephen A, Deppen, Stephen A, Aldrich, Melinda C, Hartge, Patricia, Berg, Christine D, Colditz, Graham A, Petitti, Diana B, and Hiatt, Robert A
Abstract: PurposeCancer screening procedures have brought great benefit to the public's health. However, the science of cancer screening and the evidence arising from research in this field as it is applied to policy is complex and has been difficult to communicate, especially on the national stage. We explore how epidemiologists have contributed to this evidence base and to its translation into policy.MethodsOur essay focuses on breast and lung cancer screening to identify commonalities of experience by epidemiologists across two different cancer sites and describe how epidemiologists interact with evolving scientific and policy environments.ResultsWe describe the roles and challenges that epidemiologists encounter according to the maturity of the data, stakeholders, and the related political context. We also explore the unique position of cancer screening as influenced by the legislative landscape where, due to recent healthcare reform, cancer screening research plays directly into national policy.ConclusionsIn the complex landscape for cancer screening policy, epidemiologists can increase their impact by learning from past experiences, being well prepared and communicating effectively.
Published: 2012

38. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Author: Siddiq, Afshan, Couch, Fergus J., Chen, Gary K., Lindstrom, Sara, Eccles, Diana, Millikan, Robert C., Michailidou, Kyriaki, Stram, Daniel O., Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B., Aittomaki, Kristiina, Amiano, Pilar, Apicella, Carmel, Baglietto, Laura, Bandera, Elisa V., Beckmann, Matthias W., Berg, Christine D., Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M., Buring, Julie E., Buys, Saundra S., Campa, Daniele, Carpenter, Jane E., Chasman, Daniel I., Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Francoise, Cox, Angela, Cross, Simon S., Czene, Kamila, Deming, Sandra L., Diasio, Robert B., Diver, W. Ryan, Dunning, Alison M., Durcan, Lorraine, Ekici, Arif B., Fasching, Peter A., Feigelson, Heather Spencer, Fejerman, Laura, Figueroa, Jonine D., Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M., Gerty, Susan M., Rodriguez-Gil, Jorge L., Giles, Graham G., van Gils, Carla H., Godwin, Andrew K., Graham, Nikki, Greco, Dario, Hall, Per, Hankinson, Susan E., Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N., Hopper, John L., Hu, Jennifer J., Huntsman, Scott, Ingles, Sue A., Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B., John, Esther M., Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N., Coetzee, Gerhard A., Lathrop, Mark, Le Marchand, Loic, Lee, Adam M., Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G., McLean, Catriona A., Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R., Montgomery, Grant W., Mueller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J., Olswold, Curtis, Overvad, Kim, Palli, Domenico, Park, Daniel J., Palmer, Julie R., Pathak, Harsh, Peto, Julian, Pharoah, Paul, Rahman, Nazneen, Rivadeneira, Fernando, Schmidt, Daniel F., Schmutzler, Rita K., Slager, Susan, Southey, Melissa C., Stevens, Kristen N., Sinn, Hans-Peter, Press, Michael F., Ross, Eric, Riboli, Elio, Ridker, Paul M., Schumacher, Fredrick R., Severi, Gianluca, Silva, Isabel dos Santos, Stone, Jennifer, Sund, Malin, Tapper, William J., Thun, Michael J., Travis, Ruth C., Turnbull, Clare, Uitterlinden, Andre G., Waisfisz, Quinten, Wang, Xianshu, Wang, Zhaoming, Weaver, JoEllen, Schulz-Wendtland, Ruediger, Wilkens, Lynne R., Van Den Berg, David, Zheng, Wei, Ziegler, Regina G., Ziv, Elad, Nevanlinna, Heli, Easton, Douglas F., Hunter, David J., Henderson, Brian E., Chanock, Stephen J., Garcia-Closas, Montserrat, Kraft, Peter, Haiman, Christopher A., Vachon, Celine M., Siddiq, Afshan, Couch, Fergus J., Chen, Gary K., Lindstrom, Sara, Eccles, Diana, Millikan, Robert C., Michailidou, Kyriaki, Stram, Daniel O., Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B., Aittomaki, Kristiina, Amiano, Pilar, Apicella, Carmel, Baglietto, Laura, Bandera, Elisa V., Beckmann, Matthias W., Berg, Christine D., Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M., Buring, Julie E., Buys, Saundra S., Campa, Daniele, Carpenter, Jane E., Chasman, Daniel I., Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Francoise, Cox, Angela, Cross, Simon S., Czene, Kamila, Deming, Sandra L., Diasio, Robert B., Diver, W. Ryan, Dunning, Alison M., Durcan, Lorraine, Ekici, Arif B., Fasching, Peter A., Feigelson, Heather Spencer, Fejerman, Laura, Figueroa, Jonine D., Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M., Gerty, Susan M., Rodriguez-Gil, Jorge L., Giles, Graham G., van Gils, Carla H., Godwin, Andrew K., Graham, Nikki, Greco, Dario, Hall, Per, Hankinson, Susan E., Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N., Hopper, John L., Hu, Jennifer J., Huntsman, Scott, Ingles, Sue A., Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B., John, Esther M., Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N., Coetzee, Gerhard A., Lathrop, Mark, Le Marchand, Loic, Lee, Adam M., Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G., McLean, Catriona A., Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R., Montgomery, Grant W., Mueller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J., Olswold, Curtis, Overvad, Kim, Palli, Domenico, Park, Daniel J., Palmer, Julie R., Pathak, Harsh, Peto, Julian, Pharoah, Paul, Rahman, Nazneen, Rivadeneira, Fernando, Schmidt, Daniel F., Schmutzler, Rita K., Slager, Susan, Southey, Melissa C., Stevens, Kristen N., Sinn, Hans-Peter, Press, Michael F., Ross, Eric, Riboli, Elio, Ridker, Paul M., Schumacher, Fredrick R., Severi, Gianluca, Silva, Isabel dos Santos, Stone, Jennifer, Sund, Malin, Tapper, William J., Thun, Michael J., Travis, Ruth C., Turnbull, Clare, Uitterlinden, Andre G., Waisfisz, Quinten, Wang, Xianshu, Wang, Zhaoming, Weaver, JoEllen, Schulz-Wendtland, Ruediger, Wilkens, Lynne R., Van Den Berg, David, Zheng, Wei, Ziegler, Regina G., Ziv, Elad, Nevanlinna, Heli, Easton, Douglas F., Hunter, David J., Henderson, Brian E., Chanock, Stephen J., Garcia-Closas, Montserrat, Kraft, Peter, Haiman, Christopher A., and Vachon, Celine M.
Abstract: Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P 1 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR 1.16; P 1.1 10(8)) but showed a weaker association with overall breast cancer (OR 1.08, P 1.3 10(6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR 1.01, P 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR 1.12; P 1.1 10(9)), and with both ER-positive (OR 1.09; P 1.5 10(5)) and ER-negative (OR 1.16, P 2.5 10(7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.
Published: 2012

39. Cancer screening: the journey from epidemiology to policy.

Author: Deppen, Stephen A, Deppen, Stephen A, Aldrich, Melinda C, Hartge, Patricia, Berg, Christine D, Colditz, Graham A, Petitti, Diana B, Hiatt, Robert A, Deppen, Stephen A, Deppen, Stephen A, Aldrich, Melinda C, Hartge, Patricia, Berg, Christine D, Colditz, Graham A, Petitti, Diana B, and Hiatt, Robert A
Abstract: PurposeCancer screening procedures have brought great benefit to the public's health. However, the science of cancer screening and the evidence arising from research in this field as it is applied to policy is complex and has been difficult to communicate, especially on the national stage. We explore how epidemiologists have contributed to this evidence base and to its translation into policy.MethodsOur essay focuses on breast and lung cancer screening to identify commonalities of experience by epidemiologists across two different cancer sites and describe how epidemiologists interact with evolving scientific and policy environments.ResultsWe describe the roles and challenges that epidemiologists encounter according to the maturity of the data, stakeholders, and the related political context. We also explore the unique position of cancer screening as influenced by the legislative landscape where, due to recent healthcare reform, cancer screening research plays directly into national policy.ConclusionsIn the complex landscape for cancer screening policy, epidemiologists can increase their impact by learning from past experiences, being well prepared and communicating effectively.
Published: 2012

40. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

Author: Siddiq, Afshan, Siddiq, Afshan, Couch, Fergus J, Chen, Gary K, Lindström, Sara, Eccles, Diana, Millikan, Robert C, Michailidou, Kyriaki, Stram, Daniel O, Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B, Aittomäki, Kristiina, Amiano, Pilar, Apicella, Carmel, Australian Breast Cancer Tissue Bank Investigators, Baglietto, Laura, Bandera, Elisa V, Beckmann, Matthias W, Berg, Christine D, Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M, Buring, Julie E, Buys, Saundra S, Campa, Daniele, Carpenter, Jane E, Chasman, Daniel I, Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Françoise, Cox, Angela, Cross, Simon S, Czene, Kamila, Deming, Sandra L, Diasio, Robert B, Diver, W Ryan, Dunning, Alison M, Durcan, Lorraine, Ekici, Arif B, Fasching, Peter A, Familial Breast Cancer Study, Feigelson, Heather Spencer, Fejerman, Laura, Figueroa, Jonine D, Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M, GENICA Consortium, Gerty, Susan M, Rodriguez-Gil, Jorge L, Giles, Graham G, van Gils, Carla H, Godwin, Andrew K, Graham, Nikki, Greco, Dario, Hall, Per, Hankinson, Susan E, Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N, Hopper, John L, Hu, Jennifer J, Huntsman, Scott, Ingles, Sue A, Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B, John, Esther M, Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N, Coetzee, Gerhard A, Lathrop, Mark, Le Marchand, Loic, Lee, Adam M, Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G, McLean, Catriona A, Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R, Montgomery, Grant W, Müller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J, Olswold, Curtis, Overvad, Kim, Palli, Domenico, Park, Daniel J, Palmer, Julie R, Pathak, Harsh, Siddiq, Afshan, Siddiq, Afshan, Couch, Fergus J, Chen, Gary K, Lindström, Sara, Eccles, Diana, Millikan, Robert C, Michailidou, Kyriaki, Stram, Daniel O, Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B, Aittomäki, Kristiina, Amiano, Pilar, Apicella, Carmel, Australian Breast Cancer Tissue Bank Investigators, Baglietto, Laura, Bandera, Elisa V, Beckmann, Matthias W, Berg, Christine D, Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M, Buring, Julie E, Buys, Saundra S, Campa, Daniele, Carpenter, Jane E, Chasman, Daniel I, Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Françoise, Cox, Angela, Cross, Simon S, Czene, Kamila, Deming, Sandra L, Diasio, Robert B, Diver, W Ryan, Dunning, Alison M, Durcan, Lorraine, Ekici, Arif B, Fasching, Peter A, Familial Breast Cancer Study, Feigelson, Heather Spencer, Fejerman, Laura, Figueroa, Jonine D, Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M, GENICA Consortium, Gerty, Susan M, Rodriguez-Gil, Jorge L, Giles, Graham G, van Gils, Carla H, Godwin, Andrew K, Graham, Nikki, Greco, Dario, Hall, Per, Hankinson, Susan E, Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N, Hopper, John L, Hu, Jennifer J, Huntsman, Scott, Ingles, Sue A, Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B, John, Esther M, Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N, Coetzee, Gerhard A, Lathrop, Mark, Le Marchand, Loic, Lee, Adam M, Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G, McLean, Catriona A, Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R, Montgomery, Grant W, Müller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J, Olswold, Curtis, Overvad, Kim, Palli, Domenico, Park, Daniel J, Palmer, Julie R, and Pathak, Harsh
Abstract: Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.
Published: 2012

41. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Author: Siddiq, Afshan, Couch, Fergus J., Chen, Gary K., Lindstrom, Sara, Eccles, Diana, Millikan, Robert C., Michailidou, Kyriaki, Stram, Daniel O., Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B., Aittomaki, Kristiina, Amiano, Pilar, Apicella, Carmel, Baglietto, Laura, Bandera, Elisa V., Beckmann, Matthias W., Berg, Christine D., Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M., Buring, Julie E., Buys, Saundra S., Campa, Daniele, Carpenter, Jane E., Chasman, Daniel I., Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Francoise, Cox, Angela, Cross, Simon S., Czene, Kamila, Deming, Sandra L., Diasio, Robert B., Diver, W. Ryan, Dunning, Alison M., Durcan, Lorraine, Ekici, Arif B., Fasching, Peter A., Feigelson, Heather Spencer, Fejerman, Laura, Figueroa, Jonine D., Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M., Gerty, Susan M., Rodriguez-Gil, Jorge L., Giles, Graham G., van Gils, Carla H., Godwin, Andrew K., Graham, Nikki, Greco, Dario, Hall, Per, Hankinson, Susan E., Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N., Hopper, John L., Hu, Jennifer J., Huntsman, Scott, Ingles, Sue A., Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B., John, Esther M., Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N., Coetzee, Gerhard A., Lathrop, Mark, Le Marchand, Loic, Lee, Adam M., Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G., McLean, Catriona A., Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R., Montgomery, Grant W., Mueller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J., Olswold, Curtis, Overvad, Kim, Palli, Domenico, Park, Daniel J., Palmer, Julie R., Pathak, Harsh, Peto, Julian, Pharoah, Paul, Rahman, Nazneen, Rivadeneira, Fernando, Schmidt, Daniel F., Schmutzler, Rita K., Slager, Susan, Southey, Melissa C., Stevens, Kristen N., Sinn, Hans-Peter, Press, Michael F., Ross, Eric, Riboli, Elio, Ridker, Paul M., Schumacher, Fredrick R., Severi, Gianluca, Silva, Isabel dos Santos, Stone, Jennifer, Sund, Malin, Tapper, William J., Thun, Michael J., Travis, Ruth C., Turnbull, Clare, Uitterlinden, Andre G., Waisfisz, Quinten, Wang, Xianshu, Wang, Zhaoming, Weaver, JoEllen, Schulz-Wendtland, Ruediger, Wilkens, Lynne R., Van Den Berg, David, Zheng, Wei, Ziegler, Regina G., Ziv, Elad, Nevanlinna, Heli, Easton, Douglas F., Hunter, David J., Henderson, Brian E., Chanock, Stephen J., Garcia-Closas, Montserrat, Kraft, Peter, Haiman, Christopher A., Vachon, Celine M., Siddiq, Afshan, Couch, Fergus J., Chen, Gary K., Lindstrom, Sara, Eccles, Diana, Millikan, Robert C., Michailidou, Kyriaki, Stram, Daniel O., Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B., Aittomaki, Kristiina, Amiano, Pilar, Apicella, Carmel, Baglietto, Laura, Bandera, Elisa V., Beckmann, Matthias W., Berg, Christine D., Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M., Buring, Julie E., Buys, Saundra S., Campa, Daniele, Carpenter, Jane E., Chasman, Daniel I., Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Francoise, Cox, Angela, Cross, Simon S., Czene, Kamila, Deming, Sandra L., Diasio, Robert B., Diver, W. Ryan, Dunning, Alison M., Durcan, Lorraine, Ekici, Arif B., Fasching, Peter A., Feigelson, Heather Spencer, Fejerman, Laura, Figueroa, Jonine D., Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M., Gerty, Susan M., Rodriguez-Gil, Jorge L., Giles, Graham G., van Gils, Carla H., Godwin, Andrew K., Graham, Nikki, Greco, Dario, Hall, Per, Hankinson, Susan E., Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N., Hopper, John L., Hu, Jennifer J., Huntsman, Scott, Ingles, Sue A., Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B., John, Esther M., Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N., Coetzee, Gerhard A., Lathrop, Mark, Le Marchand, Loic, Lee, Adam M., Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G., McLean, Catriona A., Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R., Montgomery, Grant W., Mueller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J., Olswold, Curtis, Overvad, Kim, Palli, Domenico, Park, Daniel J., Palmer, Julie R., Pathak, Harsh, Peto, Julian, Pharoah, Paul, Rahman, Nazneen, Rivadeneira, Fernando, Schmidt, Daniel F., Schmutzler, Rita K., Slager, Susan, Southey, Melissa C., Stevens, Kristen N., Sinn, Hans-Peter, Press, Michael F., Ross, Eric, Riboli, Elio, Ridker, Paul M., Schumacher, Fredrick R., Severi, Gianluca, Silva, Isabel dos Santos, Stone, Jennifer, Sund, Malin, Tapper, William J., Thun, Michael J., Travis, Ruth C., Turnbull, Clare, Uitterlinden, Andre G., Waisfisz, Quinten, Wang, Xianshu, Wang, Zhaoming, Weaver, JoEllen, Schulz-Wendtland, Ruediger, Wilkens, Lynne R., Van Den Berg, David, Zheng, Wei, Ziegler, Regina G., Ziv, Elad, Nevanlinna, Heli, Easton, Douglas F., Hunter, David J., Henderson, Brian E., Chanock, Stephen J., Garcia-Closas, Montserrat, Kraft, Peter, Haiman, Christopher A., and Vachon, Celine M.
Abstract: Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P 1 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR 1.16; P 1.1 10(8)) but showed a weaker association with overall breast cancer (OR 1.08, P 1.3 10(6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR 1.01, P 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR 1.12; P 1.1 10(9)), and with both ER-positive (OR 1.09; P 1.5 10(5)) and ER-negative (OR 1.16, P 2.5 10(7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.
Published: 2012

42. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

Author: Purdue, Mark P, Johansson, Mattias, Zelenika, Diana, Toro, Jorge R, Scelo, Ghislaine, Moore, Lee E, Prokhortchouk, Egor, Wu, Xifeng, Kiemeney, Lambertus A, Gaborieau, Valerie, Jacobs, Kevin B, Chow, Wong-Ho, Zaridze, David, Matveev, Vsevolod, Lubinski, Jan, Trubicka, Joanna, Szeszenia-Dabrowska, Neonila, Lissowska, Jolanta, Rudnai, Péter, Fabianova, Eleonora, Bucur, Alexandru, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Boffetta, Paolo, Colt, Joanne S, Davis, Faith G, Schwartz, Kendra L, Banks, Rosamonde E, Selby, Peter J, Harnden, Patricia, Berg, Christine D, Hsing, Ann W, Grubb, Robert L, Boeing, Heiner, Vineis, Paolo, Clavel-Chapelon, Françoise, Palli, Domenico, Tumino, Rosario, Krogh, Vittorio, Panico, Salvatore, Duell, Eric J, Quirós, José Ramón, Sanchez, Maria-José, Navarro, Carmen, Ardanaz, Eva, Dorronsoro, Miren, Khaw, Kay-Tee, Allen, Naomi E, Bueno-de-Mesquita, H Bas, Peeters, Petra H M, Trichopoulos, Dimitrios, Linseisen, Jakob, Ljungberg, Börje, Overvad, Kim, Tjønneland, Anne, Romieu, Isabelle, Riboli, Elio, Mukeria, Anush, Shangina, Oxana, Stevens, Victoria L, Thun, Michael J, Diver, W Ryan, Gapstur, Susan M, Pharoah, Paul D, Easton, Douglas F, Albanes, Demetrius, Weinstein, Stephanie J, Virtamo, Jarmo, Vatten, Lars, Hveem, Kristian, Njølstad, Inger, Tell, Grethe S, Stoltenberg, Camilla, Kumar, Rajiv, Koppova, Kvetoslava, Cussenot, Olivier, Benhamou, Simone, Oosterwijk, Egbert, Vermeulen, Sita H, Aben, Katja K H, van der Marel, Saskia L, Ye, Yuanqing, Wood, Christopher G, Pu, Xia, Mazur, Alexander M, Boulygina, Eugenia S, Chekanov, Nikolai N, Foglio, Mario, Lechner, Doris, Gut, Ivo, Heath, Simon, Blanche, Hélène, Hutchinson, Amy, Thomas, Gilles, Wang, Zhaoming, Yeager, Meredith, Fraumeni, Joseph F, Skryabin, Konstantin G, McKay, James D, Rothman, Nathaniel, Chanock, Stephen J, Lathrop, Mark, Brennan, Paul, Purdue, Mark P, Johansson, Mattias, Zelenika, Diana, Toro, Jorge R, Scelo, Ghislaine, Moore, Lee E, Prokhortchouk, Egor, Wu, Xifeng, Kiemeney, Lambertus A, Gaborieau, Valerie, Jacobs, Kevin B, Chow, Wong-Ho, Zaridze, David, Matveev, Vsevolod, Lubinski, Jan, Trubicka, Joanna, Szeszenia-Dabrowska, Neonila, Lissowska, Jolanta, Rudnai, Péter, Fabianova, Eleonora, Bucur, Alexandru, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Boffetta, Paolo, Colt, Joanne S, Davis, Faith G, Schwartz, Kendra L, Banks, Rosamonde E, Selby, Peter J, Harnden, Patricia, Berg, Christine D, Hsing, Ann W, Grubb, Robert L, Boeing, Heiner, Vineis, Paolo, Clavel-Chapelon, Françoise, Palli, Domenico, Tumino, Rosario, Krogh, Vittorio, Panico, Salvatore, Duell, Eric J, Quirós, José Ramón, Sanchez, Maria-José, Navarro, Carmen, Ardanaz, Eva, Dorronsoro, Miren, Khaw, Kay-Tee, Allen, Naomi E, Bueno-de-Mesquita, H Bas, Peeters, Petra H M, Trichopoulos, Dimitrios, Linseisen, Jakob, Ljungberg, Börje, Overvad, Kim, Tjønneland, Anne, Romieu, Isabelle, Riboli, Elio, Mukeria, Anush, Shangina, Oxana, Stevens, Victoria L, Thun, Michael J, Diver, W Ryan, Gapstur, Susan M, Pharoah, Paul D, Easton, Douglas F, Albanes, Demetrius, Weinstein, Stephanie J, Virtamo, Jarmo, Vatten, Lars, Hveem, Kristian, Njølstad, Inger, Tell, Grethe S, Stoltenberg, Camilla, Kumar, Rajiv, Koppova, Kvetoslava, Cussenot, Olivier, Benhamou, Simone, Oosterwijk, Egbert, Vermeulen, Sita H, Aben, Katja K H, van der Marel, Saskia L, Ye, Yuanqing, Wood, Christopher G, Pu, Xia, Mazur, Alexander M, Boulygina, Eugenia S, Chekanov, Nikolai N, Foglio, Mario, Lechner, Doris, Gut, Ivo, Heath, Simon, Blanche, Hélène, Hutchinson, Amy, Thomas, Gilles, Wang, Zhaoming, Yeager, Meredith, Fraumeni, Joseph F, Skryabin, Konstantin G, McKay, James D, Rothman, Nathaniel, Chanock, Stephen J, Lathrop, Mark, and Brennan, Paul
Abstract: We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 × 10⁻¹⁴). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 × 10⁻⁸). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.
Published: 2011
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43. Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium

Author: Campa, Daniele, Kaaks, Rudolf, Le Marchand, Loic, Haiman, Christopher A., Travis, Ruth C., Berg, Christine D., Buring, Julie E., Chanock, Stephen J., Diver, W. Ryan, Dostal, Lucie, Fournier, Agnes, Hankinson, Susan E., Henderson, Brian E., Hoover, Robert N., Isaacs, Claudine, Johansson, Mattias, Kolonel, Laurence N., Kraft, Peter, Lee, I-Min, McCarty, Catherine A., Overvad, Kim, Panico, Salvatore, Peeters, Petra H. M., Riboli, Elio, Jose Sanchez, Maria, Schumacher, Fredrick R., Skeie, Guri, Stram, Daniel O., Thun, Michael J., Trichopoulos, Dimitrios, Zhang, Shumin, Ziegler, Regina G., Hunter, David J., Lindstroem, Sara, Canzian, Federico, Campa, Daniele, Kaaks, Rudolf, Le Marchand, Loic, Haiman, Christopher A., Travis, Ruth C., Berg, Christine D., Buring, Julie E., Chanock, Stephen J., Diver, W. Ryan, Dostal, Lucie, Fournier, Agnes, Hankinson, Susan E., Henderson, Brian E., Hoover, Robert N., Isaacs, Claudine, Johansson, Mattias, Kolonel, Laurence N., Kraft, Peter, Lee, I-Min, McCarty, Catherine A., Overvad, Kim, Panico, Salvatore, Peeters, Petra H. M., Riboli, Elio, Jose Sanchez, Maria, Schumacher, Fredrick R., Skeie, Guri, Stram, Daniel O., Thun, Michael J., Trichopoulos, Dimitrios, Zhang, Shumin, Ziegler, Regina G., Hunter, David J., Lindstroem, Sara, and Canzian, Federico
Abstract: Background Recently, several genome-wide association studies have identified various genetic susceptibility loci for breast cancer. Relatively little is known about the possible interactions between these loci and the established risk factors for breast cancer. Methods To assess interactions between single-nucleotide polymorphisms (SNPs) and established risk factors, we prospectively collected DNA samples and questionnaire data from 8576 breast cancer case subjects and 11 892 control subjects nested within the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3). We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. We performed likelihood ratio test to assess interactions between 17 SNPs and nine established risk factors (age at menarche, parity, age at menopause, use of hormone replacement therapy, family history, height, body mass index, smoking status, and alcohol consumption), and a correction for multiple testing of 153 tests (adjusted P value threshold = .05/153 = 3 x 10(-4)) was done. Casecase comparisons were performed for possible differential associations of polymorphisms by subgroups of tumor stage, estrogen and progesterone receptor status, and age at diagnosis. All statistical tests were two-sided. Results We confirmed the association of 14 SNPs with breast cancer risk (P(trend) = 2.57 x 10(-3) -3.96 x 10(-19)). Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with breast cancer risk. After accounting for multiple testing, no statistically significant interactions were detected between the 17 SNPs
Published: 2011
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44. A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33

Author: Petersen, Gloria M, Amundadottir, Laufey, Fuchs, Charles S, Kraft, Peter, Stolzenberg-Solomon, Rachael Z, Jacobs, Kevin B, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Gallinger, Steven, Gross, Myron, Helzlsouer, Kathy, Holly, Elizabeth A, Jacobs, Eric J, Klein, Alison P, LaCroix, Andrea, Li, Donghui, Mandelson, Margaret T, Olson, Sara H, Risch, Harvey A, Zheng, Wei, Albanes, Demetrius, Bamlet, William R, Berg, Christine D, Boutron-Ruault, Marie-Christine, Buring, Julie E, Bracci, Paige M, Canzian, Federico, Clipp, Sandra, Cotterchio, Michelle, de Andrade, Mariza, Duell, Eric J, Gaziano, J Michael, Giovannucci, Edward L, Goggins, Michael, Hallmans, Göran, Hankinson, Susan E, Hassan, Manal, Howard, Barbara, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Kaaks, Rudolf, Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C, Lynch, Shannon M, McWilliams, Robert R, Mendelsohn, Julie B, Michaud, Dominique S, Parikh, Hemang, Patel, Alpa V, Peeters, Petra H M, Rajkovic, Aleksandar, Riboli, Elio, Rodriguez, Laudina, Seminara, Daniela, Shu, Xiao-Ou, Thomas, Gilles, Tjønneland, Anne, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Van Den Eeden, Stephen K, Virtamo, Jarmo, Wactawski-Wende, Jean, Wang, Zhaoming, Wolpin, Brian M, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Fraumeni, Joseph F, Hoover, Robert N, Hartge, Patricia, Chanock, Stephen J, Petersen, Gloria M, Amundadottir, Laufey, Fuchs, Charles S, Kraft, Peter, Stolzenberg-Solomon, Rachael Z, Jacobs, Kevin B, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Gallinger, Steven, Gross, Myron, Helzlsouer, Kathy, Holly, Elizabeth A, Jacobs, Eric J, Klein, Alison P, LaCroix, Andrea, Li, Donghui, Mandelson, Margaret T, Olson, Sara H, Risch, Harvey A, Zheng, Wei, Albanes, Demetrius, Bamlet, William R, Berg, Christine D, Boutron-Ruault, Marie-Christine, Buring, Julie E, Bracci, Paige M, Canzian, Federico, Clipp, Sandra, Cotterchio, Michelle, de Andrade, Mariza, Duell, Eric J, Gaziano, J Michael, Giovannucci, Edward L, Goggins, Michael, Hallmans, Göran, Hankinson, Susan E, Hassan, Manal, Howard, Barbara, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Kaaks, Rudolf, Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C, Lynch, Shannon M, McWilliams, Robert R, Mendelsohn, Julie B, Michaud, Dominique S, Parikh, Hemang, Patel, Alpa V, Peeters, Petra H M, Rajkovic, Aleksandar, Riboli, Elio, Rodriguez, Laudina, Seminara, Daniela, Shu, Xiao-Ou, Thomas, Gilles, Tjønneland, Anne, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Van Den Eeden, Stephen K, Virtamo, Jarmo, Wactawski-Wende, Jean, Wang, Zhaoming, Wolpin, Brian M, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Fraumeni, Joseph F, Hoover, Robert N, Hartge, Patricia, and Chanock, Stephen J
Abstract: We conducted a genome-wide association study of pancreatic cancer in 3,851 affected individuals (cases) and 3,934 unaffected controls drawn from 12 prospective cohort studies and 8 case-control studies. Based on a logistic regression model for genotype trend effect that was adjusted for study, age, sex, self-described ancestry and five principal components, we identified eight SNPs that map to three loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Two correlated SNPs, rs9543325 (P = 3.27 x 10(-11), per-allele odds ratio (OR) 1.26, 95% CI 1.18-1.35) and rs9564966 (P = 5.86 x 10(-8), per-allele OR 1.21, 95% CI 1.13-1.30), map to a nongenic region on chromosome 13q22.1. Five SNPs on 1q32.1 map to NR5A2, and the strongest signal was at rs3790844 (P = 2.45 x 10(-10), per-allele OR 0.77, 95% CI 0.71-0.84). A single SNP, rs401681 (P = 3.66 x 10(-7), per-allele OR 1.19, 95% CI 1.11-1.27), maps to the CLPTM1L-TERT locus on 5p15.33, which is associated with multiple cancers. Our study has identified common susceptibility loci for pancreatic cancer that warrant follow-up studies.
Published: 2010
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45. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.

Author: Canzian, Federico, Cox, David G, Setiawan, V Wendy, Stram, Daniel O, Ziegler, Regina G, Dossus, Laure, Beckmann, Lars, Blanché, Hélène, Barricarte, Aurelio, Berg, Christine D, Bingham, Sheila, Buring, Julie, Buys, Saundra S, Calle, Eugenia E, Chanock, Stephen J, Clavel-Chapelon, Françoise, Delancey, John Oliver L, Diver, W Ryan, Dorronsoro, Miren, Haiman, Christopher A, Hallmans, Göran, Hankinson, Susan E, Hunter, David J, Hüsing, Anika, Isaacs, Claudine, Khaw, Kay-Tee, Kolonel, Laurence N, Kraft, Peter, Le Marchand, Loïc, Lund, Eiliv, Overvad, Kim, Panico, Salvatore, Peeters, Petra H M, Pollak, Michael, Thun, Michael J, Tjønneland, Anne, Trichopoulos, Dimitrios, Tumino, Rosario, Yeager, Meredith, Hoover, Robert N, Riboli, Elio, Thomas, Gilles, Henderson, Brian E, Kaaks, Rudolf, Feigelson, Heather Spencer, Canzian, Federico, Cox, David G, Setiawan, V Wendy, Stram, Daniel O, Ziegler, Regina G, Dossus, Laure, Beckmann, Lars, Blanché, Hélène, Barricarte, Aurelio, Berg, Christine D, Bingham, Sheila, Buring, Julie, Buys, Saundra S, Calle, Eugenia E, Chanock, Stephen J, Clavel-Chapelon, Françoise, Delancey, John Oliver L, Diver, W Ryan, Dorronsoro, Miren, Haiman, Christopher A, Hallmans, Göran, Hankinson, Susan E, Hunter, David J, Hüsing, Anika, Isaacs, Claudine, Khaw, Kay-Tee, Kolonel, Laurence N, Kraft, Peter, Le Marchand, Loïc, Lund, Eiliv, Overvad, Kim, Panico, Salvatore, Peeters, Petra H M, Pollak, Michael, Thun, Michael J, Tjønneland, Anne, Trichopoulos, Dimitrios, Tumino, Rosario, Yeager, Meredith, Hoover, Robert N, Riboli, Elio, Thomas, Gilles, Henderson, Brian E, Kaaks, Rudolf, and Feigelson, Heather Spencer
Abstract: There is extensive evidence that increases in blood and tissue concentrations of steroid hormones and of insulin-like growth factor I (IGF-I) are associated with breast cancer risk. However, studies of common variation in genes involved in steroid hormone and IGF-I metabolism have yet to provide convincing evidence that such variants predict breast cancer risk. The Breast and Prostate Cancer Cohort Consortium (BPC3) is a collaboration of large US and European cohorts. We genotyped 1416 tagging single nucleotide polymorphisms (SNPs) in 37 steroid hormone metabolism genes and 24 IGF-I pathway genes in 6292 cases of breast cancer and 8135 controls, mostly Caucasian, postmenopausal women from the BPC3. We also imputed 3921 additional SNPs in the regions of interest. None of the SNPs tested was significantly associated with breast cancer risk, after correction for multiple comparisons. The results remained null when cases and controls were stratified by age at diagnosis/recruitment, advanced or nonadvanced disease, body mass index, with or without in situ cases; or restricted to Caucasians. Among 770 estrogen receptor-negative cases, an SNP located 3' of growth hormone receptor (GHR) was marginally associated with increased risk after correction for multiple testing (P(trend) = 1.5 × 10(-4)). We found no significant overall associations between breast cancer and common germline variation in 61 genes involved in steroid hormone and IGF-I metabolism in this large, comprehensive study. Although previous studies have shown that variations in these genes can influence endogenous hormone levels, the magnitude of the effect of single SNPs does not appear to be sufficient to alter breast cancer risk.
Published: 2010
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46. Eighteen insulin-like growth factor pathway genes, circulating levels of IGF-I and its binding protein, and risk of prostate and breast cancer

Author: Gu, Fangyi, Schumacher, Fredrick R, Canzian, Federico, Allen, Naomi E, Albanes, Demetrius, Berg, Christine D, Berndt, Sonja I, Boeing, Heiner, Bueno-de-Mesquita, H Bas, Buring, Julie E, Chabbert-Buffet, Nathalie, Chanock, Stephen J, Clavel-Chapelon, Françoise, Dumeaux, Vanessa, Gaziano, J Michael, Giovannucci, Edward L, Haiman, Christopher A, Hankinson, Susan E, Hayes, Richard B, Henderson, Brian E, Hunter, David J, Hoover, Robert N, Johansson, Mattias, Key, Timothy J, Khaw, Kay-Tee, Kolonel, Laurence N, Lagiou, Pagona, Lee, I-Min, LeMarchand, Loic, Lund, Eiliv, Ma, Jing, Onland-Moret, N Charlotte, Overvad, Kim, Rodriguez, Laudina, Sacerdote, Carlotta, Sánchez, Maria-José, Stampfer, Meir J, Stattin, Pär, Stram, Daniel O, Thomas, Gilles, Thun, Michael J, Tjønneland, Anne, Trichopoulos, Dimitrios, Tumino, Rosario, Virtamo, Jarmo, Weinstein, Stephanie J, Willett, Walter C, Yeager, Meredith, Zhang, Shumin M, Kaaks, Rudolf, Riboli, Elio, Ziegler, Regina G, Kraft, Peter, Gu, Fangyi, Schumacher, Fredrick R, Canzian, Federico, Allen, Naomi E, Albanes, Demetrius, Berg, Christine D, Berndt, Sonja I, Boeing, Heiner, Bueno-de-Mesquita, H Bas, Buring, Julie E, Chabbert-Buffet, Nathalie, Chanock, Stephen J, Clavel-Chapelon, Françoise, Dumeaux, Vanessa, Gaziano, J Michael, Giovannucci, Edward L, Haiman, Christopher A, Hankinson, Susan E, Hayes, Richard B, Henderson, Brian E, Hunter, David J, Hoover, Robert N, Johansson, Mattias, Key, Timothy J, Khaw, Kay-Tee, Kolonel, Laurence N, Lagiou, Pagona, Lee, I-Min, LeMarchand, Loic, Lund, Eiliv, Ma, Jing, Onland-Moret, N Charlotte, Overvad, Kim, Rodriguez, Laudina, Sacerdote, Carlotta, Sánchez, Maria-José, Stampfer, Meir J, Stattin, Pär, Stram, Daniel O, Thomas, Gilles, Thun, Michael J, Tjønneland, Anne, Trichopoulos, Dimitrios, Tumino, Rosario, Virtamo, Jarmo, Weinstein, Stephanie J, Willett, Walter C, Yeager, Meredith, Zhang, Shumin M, Kaaks, Rudolf, Riboli, Elio, Ziegler, Regina G, and Kraft, Peter
Abstract: Background: Circulating levels of insulin-like growth factor I (IGF-I) and its main binding protein, IGF binding protein 3 (IGFBP-3), have been associated with risk of several types of cancer. Heritable factors explain up to 60% of the variation in IGF-I and IGFBP-3 in studies of adult twins. Methods: We systematically examined common genetic variation in 18 genes in the IGF signaling pathway for associations with circulating levels of IGF-I and IGFBP-3. A total of 302 single nucleotide polymorphisms (SNP) were genotyped in >5,500 Caucasian men and 5,500 Caucasian women from the Breast and Prostate Cancer Cohort Consortium. Results: After adjusting for multiple testing, SNPs in the IGF1 and SSTR5 genes were significantly associated with circulating IGF-I (P < 2.1 × 10−4); SNPs in the IGFBP3 and IGFALS genes were significantly associated with circulating IGFBP-3. Multi-SNP models explained R2 = 0.62% of the variation in circulating IGF-I and 3.9% of the variation in circulating IGFBP-3. We saw no significant association between these multi-SNP predictors of circulating IGF-I or IGFBP-3 and risk of prostate or breast cancers. Conclusion: Common genetic variation in the IGF1 and SSTR5 genes seems to influence circulating IGF-I levels, and variation in IGFBP3 and IGFALS seems to influence circulating IGFBP-3. However, these variants explain only a small percentage of the variation in circulating IGF-I and IGFBP-3 in Caucasian men and women. Impact: Further studies are needed to explore contributions from other genetic factors such as rare variants in these genes and variation outside of these genes.
Published: 2010
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47. A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.

Author: Petersen, Gloria M, Petersen, Gloria M, Amundadottir, Laufey, Fuchs, Charles S, Kraft, Peter, Stolzenberg-Solomon, Rachael Z, Jacobs, Kevin B, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Gallinger, Steven, Gross, Myron, Helzlsouer, Kathy, Holly, Elizabeth A, Jacobs, Eric J, Klein, Alison P, LaCroix, Andrea, Li, Donghui, Mandelson, Margaret T, Olson, Sara H, Risch, Harvey A, Zheng, Wei, Albanes, Demetrius, Bamlet, William R, Berg, Christine D, Boutron-Ruault, Marie-Christine, Buring, Julie E, Bracci, Paige M, Canzian, Federico, Clipp, Sandra, Cotterchio, Michelle, de Andrade, Mariza, Duell, Eric J, Gaziano, J Michael, Giovannucci, Edward L, Goggins, Michael, Hallmans, Göran, Hankinson, Susan E, Hassan, Manal, Howard, Barbara, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Kaaks, Rudolf, Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C, Lynch, Shannon M, McWilliams, Robert R, Mendelsohn, Julie B, Michaud, Dominique S, Parikh, Hemang, Patel, Alpa V, Peeters, Petra HM, Rajkovic, Aleksandar, Riboli, Elio, Rodriguez, Laudina, Seminara, Daniela, Shu, Xiao-Ou, Thomas, Gilles, Tjønneland, Anne, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Van Den Eeden, Stephen K, Virtamo, Jarmo, Wactawski-Wende, Jean, Wang, Zhaoming, Wolpin, Brian M, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Fraumeni, Joseph F, Hoover, Robert N, Hartge, Patricia, Chanock, Stephen J, Petersen, Gloria M, Petersen, Gloria M, Amundadottir, Laufey, Fuchs, Charles S, Kraft, Peter, Stolzenberg-Solomon, Rachael Z, Jacobs, Kevin B, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Gallinger, Steven, Gross, Myron, Helzlsouer, Kathy, Holly, Elizabeth A, Jacobs, Eric J, Klein, Alison P, LaCroix, Andrea, Li, Donghui, Mandelson, Margaret T, Olson, Sara H, Risch, Harvey A, Zheng, Wei, Albanes, Demetrius, Bamlet, William R, Berg, Christine D, Boutron-Ruault, Marie-Christine, Buring, Julie E, Bracci, Paige M, Canzian, Federico, Clipp, Sandra, Cotterchio, Michelle, de Andrade, Mariza, Duell, Eric J, Gaziano, J Michael, Giovannucci, Edward L, Goggins, Michael, Hallmans, Göran, Hankinson, Susan E, Hassan, Manal, Howard, Barbara, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Kaaks, Rudolf, Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C, Lynch, Shannon M, McWilliams, Robert R, Mendelsohn, Julie B, Michaud, Dominique S, Parikh, Hemang, Patel, Alpa V, Peeters, Petra HM, Rajkovic, Aleksandar, Riboli, Elio, Rodriguez, Laudina, Seminara, Daniela, Shu, Xiao-Ou, Thomas, Gilles, Tjønneland, Anne, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Van Den Eeden, Stephen K, Virtamo, Jarmo, Wactawski-Wende, Jean, Wang, Zhaoming, Wolpin, Brian M, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Fraumeni, Joseph F, Hoover, Robert N, Hartge, Patricia, and Chanock, Stephen J
Abstract: We conducted a genome-wide association study of pancreatic cancer in 3,851 affected individuals (cases) and 3,934 unaffected controls drawn from 12 prospective cohort studies and 8 case-control studies. Based on a logistic regression model for genotype trend effect that was adjusted for study, age, sex, self-described ancestry and five principal components, we identified eight SNPs that map to three loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Two correlated SNPs, rs9543325 (P = 3.27 x 10(-11), per-allele odds ratio (OR) 1.26, 95% CI 1.18-1.35) and rs9564966 (P = 5.86 x 10(-8), per-allele OR 1.21, 95% CI 1.13-1.30), map to a nongenic region on chromosome 13q22.1. Five SNPs on 1q32.1 map to NR5A2, and the strongest signal was at rs3790844 (P = 2.45 x 10(-10), per-allele OR 0.77, 95% CI 0.71-0.84). A single SNP, rs401681 (P = 3.66 x 10(-7), per-allele OR 1.19, 95% CI 1.11-1.27), maps to the CLPTM1L-TERT locus on 5p15.33, which is associated with multiple cancers. Our study has identified common susceptibility loci for pancreatic cancer that warrant follow-up studies.
Published: 2010

48. A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.

Author: Petersen, Gloria M, Petersen, Gloria M, Amundadottir, Laufey, Fuchs, Charles S, Kraft, Peter, Stolzenberg-Solomon, Rachael Z, Jacobs, Kevin B, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Gallinger, Steven, Gross, Myron, Helzlsouer, Kathy, Holly, Elizabeth A, Jacobs, Eric J, Klein, Alison P, LaCroix, Andrea, Li, Donghui, Mandelson, Margaret T, Olson, Sara H, Risch, Harvey A, Zheng, Wei, Albanes, Demetrius, Bamlet, William R, Berg, Christine D, Boutron-Ruault, Marie-Christine, Buring, Julie E, Bracci, Paige M, Canzian, Federico, Clipp, Sandra, Cotterchio, Michelle, de Andrade, Mariza, Duell, Eric J, Gaziano, J Michael, Giovannucci, Edward L, Goggins, Michael, Hallmans, Göran, Hankinson, Susan E, Hassan, Manal, Howard, Barbara, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Kaaks, Rudolf, Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C, Lynch, Shannon M, McWilliams, Robert R, Mendelsohn, Julie B, Michaud, Dominique S, Parikh, Hemang, Patel, Alpa V, Peeters, Petra HM, Rajkovic, Aleksandar, Riboli, Elio, Rodriguez, Laudina, Seminara, Daniela, Shu, Xiao-Ou, Thomas, Gilles, Tjønneland, Anne, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Van Den Eeden, Stephen K, Virtamo, Jarmo, Wactawski-Wende, Jean, Wang, Zhaoming, Wolpin, Brian M, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Fraumeni, Joseph F, Hoover, Robert N, Hartge, Patricia, Chanock, Stephen J, Petersen, Gloria M, Petersen, Gloria M, Amundadottir, Laufey, Fuchs, Charles S, Kraft, Peter, Stolzenberg-Solomon, Rachael Z, Jacobs, Kevin B, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Gallinger, Steven, Gross, Myron, Helzlsouer, Kathy, Holly, Elizabeth A, Jacobs, Eric J, Klein, Alison P, LaCroix, Andrea, Li, Donghui, Mandelson, Margaret T, Olson, Sara H, Risch, Harvey A, Zheng, Wei, Albanes, Demetrius, Bamlet, William R, Berg, Christine D, Boutron-Ruault, Marie-Christine, Buring, Julie E, Bracci, Paige M, Canzian, Federico, Clipp, Sandra, Cotterchio, Michelle, de Andrade, Mariza, Duell, Eric J, Gaziano, J Michael, Giovannucci, Edward L, Goggins, Michael, Hallmans, Göran, Hankinson, Susan E, Hassan, Manal, Howard, Barbara, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Kaaks, Rudolf, Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C, Lynch, Shannon M, McWilliams, Robert R, Mendelsohn, Julie B, Michaud, Dominique S, Parikh, Hemang, Patel, Alpa V, Peeters, Petra HM, Rajkovic, Aleksandar, Riboli, Elio, Rodriguez, Laudina, Seminara, Daniela, Shu, Xiao-Ou, Thomas, Gilles, Tjønneland, Anne, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Van Den Eeden, Stephen K, Virtamo, Jarmo, Wactawski-Wende, Jean, Wang, Zhaoming, Wolpin, Brian M, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Fraumeni, Joseph F, Hoover, Robert N, Hartge, Patricia, and Chanock, Stephen J
Abstract: We conducted a genome-wide association study of pancreatic cancer in 3,851 affected individuals (cases) and 3,934 unaffected controls drawn from 12 prospective cohort studies and 8 case-control studies. Based on a logistic regression model for genotype trend effect that was adjusted for study, age, sex, self-described ancestry and five principal components, we identified eight SNPs that map to three loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Two correlated SNPs, rs9543325 (P = 3.27 x 10(-11), per-allele odds ratio (OR) 1.26, 95% CI 1.18-1.35) and rs9564966 (P = 5.86 x 10(-8), per-allele OR 1.21, 95% CI 1.13-1.30), map to a nongenic region on chromosome 13q22.1. Five SNPs on 1q32.1 map to NR5A2, and the strongest signal was at rs3790844 (P = 2.45 x 10(-10), per-allele OR 0.77, 95% CI 0.71-0.84). A single SNP, rs401681 (P = 3.66 x 10(-7), per-allele OR 1.19, 95% CI 1.11-1.27), maps to the CLPTM1L-TERT locus on 5p15.33, which is associated with multiple cancers. Our study has identified common susceptibility loci for pancreatic cancer that warrant follow-up studies.
Published: 2010

49. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

Author: Ahmed, Shahana, Thomas, Gilles, Ghoussaini, Maya, Healey, Catherine S., Humphreys, Manjeet K., Platte, Radka, Morrison, Jonathan, Maranian, Melanie, Pooley, Karen A., Luben, Robert, Eccles, Diana, Evans, D. Gareth, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Stratton, Michael R., Rahman, Nazneen, Jacobs, Kevin, Prentice, Ross, Anderson, Garnet L., Rajkovic, Aleksandar, Curb, J. David, Ziegler, Regina G., Berg, Christine D., Buys, Saundra S., McCarty, Catherine A., Feigelson, Heather Spencer, Calle, Eugenia E., Thun, Michael J., Diver, W. Ryan, Bojesen, Stig, Nordestgaard, Børge G., Flyger, Henrik, Dörk, Thilo, Schürmann, Peter, Hillemanns, Peter, Karstens, Johann H., Bogdanova, Natalia V., Antonenkova, Natalia N., Zalutsky, Iosif V., Bermisheva, Marina, Fedorova, Sardana, Khusnutdinova, Elza, Kang, Daehee, Yoo, Keun-Young, Noh, Dong Young, Ahn, Sei-Hyun, Devilee, Peter, van Asperen, Christi J., Tollenaar, R. A. E. M., Seynaeve, Caroline, Garcia-Closas, Montserrat, Lissowska, Jolanta, Brinton, Louise, Peplonska, Beata, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Hopper, John L., Southey, Melissa C., Smith, Letitia, Spurdle, Amanda B., Schmidt, Marjanka K., Broeks, Annegien, van Hien, Richard R., Cornelissen, Sten, Milne, Roger L., Ribas, Gloria, González-Neira, Anna, Benitez, Javier, Schmutzler, Rita K., Burwinkel, Barbara, Bartram, Claus R., Meindl, Alfons, Brauch, Hiltrud, Justenhoven, Christina, Hamann, Ute, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Olson, Janet E., Wang, Xianshu, Fredericksen, Zachary, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, English, Dallas R., Hankinson, Susan E., Cox, David G., Kraft, Peter, Vatten, Lars J., Hveem, Kristian, Kumle, Merethe, Sigurdson, Alice, Doody, Michele, Bhatti, Parveen, Alexander, Bruce H., Hooning, Maartje J., van den Ouweland, Ans M. W., Oldenburg, Rogier A., Schutte, Mieke, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Yuqing, Cox, Angela, Elliott, Graeme, Brock, Ian, Reed, Malcolm W. R., Shen, Chen-Yang, Yu, Jyh-Cherng, Hsu, Giu-Cheng, Chen, Shou-Tung, Anton-Culver, Hoda, Ziogas, Argyrios, Andrulis, Irene L., Knight, Julia A., Beesley, Jonathan, Goode, Ellen L., Couch, Fergus, Chenevix-Trench, Georgia, Hoover, Robert N., Ponder, Bruce A. J., Hunter, David J., Pharoah, Paul D. P., Dunning, Alison M., Chanock, Stephen J., Easton, Douglas F., Ahmed, Shahana, Thomas, Gilles, Ghoussaini, Maya, Healey, Catherine S., Humphreys, Manjeet K., Platte, Radka, Morrison, Jonathan, Maranian, Melanie, Pooley, Karen A., Luben, Robert, Eccles, Diana, Evans, D. Gareth, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Stratton, Michael R., Rahman, Nazneen, Jacobs, Kevin, Prentice, Ross, Anderson, Garnet L., Rajkovic, Aleksandar, Curb, J. David, Ziegler, Regina G., Berg, Christine D., Buys, Saundra S., McCarty, Catherine A., Feigelson, Heather Spencer, Calle, Eugenia E., Thun, Michael J., Diver, W. Ryan, Bojesen, Stig, Nordestgaard, Børge G., Flyger, Henrik, Dörk, Thilo, Schürmann, Peter, Hillemanns, Peter, Karstens, Johann H., Bogdanova, Natalia V., Antonenkova, Natalia N., Zalutsky, Iosif V., Bermisheva, Marina, Fedorova, Sardana, Khusnutdinova, Elza, Kang, Daehee, Yoo, Keun-Young, Noh, Dong Young, Ahn, Sei-Hyun, Devilee, Peter, van Asperen, Christi J., Tollenaar, R. A. E. M., Seynaeve, Caroline, Garcia-Closas, Montserrat, Lissowska, Jolanta, Brinton, Louise, Peplonska, Beata, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Hopper, John L., Southey, Melissa C., Smith, Letitia, Spurdle, Amanda B., Schmidt, Marjanka K., Broeks, Annegien, van Hien, Richard R., Cornelissen, Sten, Milne, Roger L., Ribas, Gloria, González-Neira, Anna, Benitez, Javier, Schmutzler, Rita K., Burwinkel, Barbara, Bartram, Claus R., Meindl, Alfons, Brauch, Hiltrud, Justenhoven, Christina, Hamann, Ute, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Olson, Janet E., Wang, Xianshu, Fredericksen, Zachary, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, English, Dallas R., Hankinson, Susan E., Cox, David G., Kraft, Peter, Vatten, Lars J., Hveem, Kristian, Kumle, Merethe, Sigurdson, Alice, Doody, Michele, Bhatti, Parveen, Alexander, Bruce H., Hooning, Maartje J., van den Ouweland, Ans M. W., Oldenburg, Rogier A., Schutte, Mieke, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Yuqing, Cox, Angela, Elliott, Graeme, Brock, Ian, Reed, Malcolm W. R., Shen, Chen-Yang, Yu, Jyh-Cherng, Hsu, Giu-Cheng, Chen, Shou-Tung, Anton-Culver, Hoda, Ziogas, Argyrios, Andrulis, Irene L., Knight, Julia A., Beesley, Jonathan, Goode, Ellen L., Couch, Fergus, Chenevix-Trench, Georgia, Hoover, Robert N., Ponder, Bruce A. J., Hunter, David J., Pharoah, Paul D. P., Dunning, Alison M., Chanock, Stephen J., and Easton, Douglas F.
Abstract: Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.
Published: 2009
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50. Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.

Author: Amundadottir, Laufey, Kraft, Peter, Stolzenberg-Solomon, Rachael Z, Fuchs, Charles S, Petersen, Gloria M, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Gross, Myron, Helzlsouer, Kathy, Jacobs, Eric J, Lacroix, Andrea, Zheng, Wei, Albanes, Demetrius, Bamlet, William, Berg, Christine D, Berrino, Franco, Bingham, Sheila, Buring, Julie E, Bracci, Paige M, Canzian, Federico, Clavel-Chapelon, Françoise, Clipp, Sandra, Cotterchio, Michelle, de Andrade, Mariza, Duell, Eric J, Fox Jr, John W, Gallinger, Steven, Gaziano, J Michael, Giovannucci, Edward L, Goggins, Michael, González, Carlos A, Hallmans, Göran, Hankinson, Susan E, Hassan, Manal, Holly, Elizabeth A, Hunter, David J, Hutchinson, Amy, Jackson, Rebecca, Jacobs, Kevin B, Jenab, Mazda, Kaaks, Rudolf, Klein, Alison P, Kooperberg, Charles, Kurtz, Robert C, Li, Donghui, Lynch, Shannon M, Mandelson, Margaret, McWilliams, Robert R, Mendelsohn, Julie B, Michaud, Dominique S, Olson, Sara H, Overvad, Kim, Patel, Alpa V, Peeters, Petra H M, Rajkovic, Aleksandar, Riboli, Elio, Risch, Harvey A, Shu, Xiao-Ou, Thomas, Gilles, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Van Den Eeden, Stephen K, Virtamo, Jarmo, Wactawski-Wende, Jean, Wolpin, Brian M, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Chanock, Stephen J, Hartge, Patricia, Hoover, Robert N, Amundadottir, Laufey, Kraft, Peter, Stolzenberg-Solomon, Rachael Z, Fuchs, Charles S, Petersen, Gloria M, Arslan, Alan A, Bueno-de-Mesquita, H Bas, Gross, Myron, Helzlsouer, Kathy, Jacobs, Eric J, Lacroix, Andrea, Zheng, Wei, Albanes, Demetrius, Bamlet, William, Berg, Christine D, Berrino, Franco, Bingham, Sheila, Buring, Julie E, Bracci, Paige M, Canzian, Federico, Clavel-Chapelon, Françoise, Clipp, Sandra, Cotterchio, Michelle, de Andrade, Mariza, Duell, Eric J, Fox Jr, John W, Gallinger, Steven, Gaziano, J Michael, Giovannucci, Edward L, Goggins, Michael, González, Carlos A, Hallmans, Göran, Hankinson, Susan E, Hassan, Manal, Holly, Elizabeth A, Hunter, David J, Hutchinson, Amy, Jackson, Rebecca, Jacobs, Kevin B, Jenab, Mazda, Kaaks, Rudolf, Klein, Alison P, Kooperberg, Charles, Kurtz, Robert C, Li, Donghui, Lynch, Shannon M, Mandelson, Margaret, McWilliams, Robert R, Mendelsohn, Julie B, Michaud, Dominique S, Olson, Sara H, Overvad, Kim, Patel, Alpa V, Peeters, Petra H M, Rajkovic, Aleksandar, Riboli, Elio, Risch, Harvey A, Shu, Xiao-Ou, Thomas, Gilles, Tobias, Geoffrey S, Trichopoulos, Dimitrios, Van Den Eeden, Stephen K, Virtamo, Jarmo, Wactawski-Wende, Jean, Wolpin, Brian M, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Chanock, Stephen J, Hartge, Patricia, and Hoover, Robert N
Abstract: We conducted a two-stage genome-wide association study of pancreatic cancer, a cancer with one of the lowest survival rates worldwide. We genotyped 558,542 SNPs in 1,896 individuals with pancreatic cancer and 1,939 controls drawn from 12 prospective cohorts plus one hospital-based case-control study. We conducted a combined analysis of these groups plus an additional 2,457 affected individuals and 2,654 controls from eight case-control studies, adjusting for study, sex, ancestry and five principal components. We identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP rs505922 (combined P = 5.37 x 10(-8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28). This SNP maps to the first intron of the ABO blood group gene. Our results are consistent with earlier epidemiologic evidence suggesting that people with blood group O may have a lower risk of pancreatic cancer than those with groups A or B.
Published: 2009
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