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1. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Author

Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen BM, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F, Flyger, Henrik, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A, Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Antonenkova, Natalia N, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Spurdle, Amanda B, Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Olson, Janet E, Vachon, Celine, Pankratz, Vernon S, McLean, Catriona, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnæs, Grethe Grenaker, and Zheng, Wei

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Ovarian Cancer, Aging, Breast Cancer, Cancer, Women's Health, Rare Diseases, Prevention, Urologic Diseases, Aetiology, 2.1 Biological and endogenous factors, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms, Case-Control Studies, Checkpoint Kinase 2, Fanconi Anemia Complementation Group N Protein, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Mutation, Nuclear Proteins, Ovarian Neoplasms, Prostatic Neoplasms, Risk, Tumor Suppressor Proteins, Australian Ovarian Cancer Study Group, Cancer: breast, Cancer: ovary, Cancer: prostate, cancer predisposition, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

BackgroundThe rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.MethodsWe genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant.ResultsFor European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10-5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10-8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants.ConclusionsThis report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

Published
2016

2. 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, Ryan W, Dunning, Alison M, Earl, Helena M, Eccles, Diana M, Ekici, Arif B, Eriksson, Mikael, Evans, Gareth D, 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, Haiman, Christopher A, 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, Le Marchand, Loic, 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, Marie Mulligan, Anna, 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, Vanʼt Veer, Laura J, Wildiers, Hans, Willett, Walter, Winqvist, Robert, Zamora, Pilar 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

Published
2017
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3. Identification of Novel Genetic Markers of Breast Cancer Survival

Author

Guo, Qi, Schmidt, Marjanka K., Kraft, Peter, Canisius, Sander, Chen, Constance, Khan, Sofia, Tyrer, Jonathan, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Lush, Michael, Kar, Siddhartha, Beesley, Jonathan, Dunning, Alison M., Shah, Mitul, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Lambrechts, Diether, Weltens, Caroline, Leunen, Karin, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Blomqvist, Carl, Aittomäki, Kristiina, Fagerholm, Rainer, Muranen, Taru A., Couch, Fergus J., Olson, Janet E., Vachon, Celine, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Broeks, Annegien, Hogervorst, Frans B., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Giles, Graham G., Milne, Roger L., McLean, Catriona, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., van den Ouweland, Ans M. W., Marme, Federik, Schneeweiss, Andreas, Yang, Rongxi, Burwinkel, Barbara, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Holleczek, Bernd, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Li, Jingmei, Brand, Judith S., Humphreys, Keith, Devilee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Mariani, Paolo, Fasching, Peter A., Beckmann, Matthias W., Hein, Alexander, Ekici, Arif B., Chenevix-Trench, Georgia, Balleine, Rosemary, Phillips, Kelly-Anne, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Menéndez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Hamann, Ute, Kabisch, Maria, Ulmer, Hans Ulrich, Rüdiger, Thomas, Margolin, Sara, Kristensen, Vessela, Nord, Silje, Evans, D. Gareth, Abraham, Jean E., Earl, Helena M., Hiller, Louise, Dunn, Janet A., Bowden, Sarah, Berg, Christine, Campa, Daniele, Diver, W. Ryan, Gapstur, Susan M., Gaudet, Mia M., Hankinson, Susan E., Hoover, Robert N., Hüsing, Anika, Kaaks, Rudolf, Machiela, Mitchell J., Willett, Walter, Barrdahl, Myrto, Canzian, Federico, Chin, Suet-Feung, Caldas, Carlos, Hunter, David J., Lindstrom, Sara, García-Closas, Montserrat, Hall, Per, Easton, Douglas F., Eccles, Diana M., Rahman, Nazneen, Nevanlinna, Heli, and Pharoah, Paul D. P.

Published
2015
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4. A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium

Author

Milne, Roger L., Herranz, Jesús, Michailidou, Kyriaki, Dennis, Joe, Tyrer, Jonathan P., Zamora, Pilar M., Arias-Perez, José Ignacio, González-Neira, Anna, Pita, Guillermo, Alonso, Rosario M., Wang, Qin, Bolla, Manjeet K., Czene, Kamila, Eriksson, Mikael, Humphreys, Keith, Darabi, Hatef, Li, Jingmei, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Clarke, Christina A., Hopper, John L., Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Chenevix-Trench, Georgia, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Wang, Xianshu, Olson, Janet E., Vachon, Celine, Purrington, Kristen, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Dunning, Alison M., Shah, Mitul, Guénel, Pascal, Truong, Thérèse, Sanchez, Marie, Mulot, Claire, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J., Hollestelle, Antoinette, Collée, Margriet J., Jager, Agnes, Cox, Angela, Brock, Ian W., Reed, Malcolm W.R., Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Dumont, Martine, Soucy, Penny, Dörk, Thilo, Bogdanova, Natalia V., Hamann, Ute, Försti, Asta, Rüdiger, Thomas, Ulmer, Hans-Ulrich, Fasching, Peter A., Häberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Radice, Paolo, Peterlongo, Paolo, Peissel, Bernard, Mariani, Paolo, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Lambrechts, Diether, Yesilyurt, Betul T., Floris, Giuseppe, Leunen, Karin, Alnæs, Grethe Grenaker, Kristensen, Vessela, Børresen-Dale, Anne-Lise, García-Closas, Montserrat, Chanock, Stephen J., Lissowska, Jolanta, Figueroa, Jonine D., Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Couch, Fergus J., Toland, Amanda E., Yannoukakos, Drakoulis, Pharoah, Paul D.P., Hall, Per, Benítez, Javier, Malats, Núria, and Easton, Douglas F.

Published
2014
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5. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium†

Author

Figueroa, Jonine D., Garcia-Closas, Montserrat, Humphreys, Manjeet, Platte, Radka, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K., Broeks, Annegien, Tollenaar, Rob A.E.M., Vanʼt Veer, Laura J., Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Strick, Reiner, Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Federik, Schneeweiss, Andreas, Sohn, Christof, Bojesen, Stig, Flyger, Henrik, Nordestgaard, Børge G., Benítez, Javier, Milne, Roger L., Ignacio Arias, Jose, Zamora, M. Pilar, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Rahman, Nazneen, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Yuri I., Karstens, Johann Hinrich, Bermisheva, Marina, Prokofieva, Darya, Hanafievich Gantcev, Shamil, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Chenevix-Trench, Georgia, Beesley, Jonathan, Chen, Xiaoqing, Mannermaa, Arto, Kosma, Veli-Matti, Soini, Ylermi, Kataja, Vesa, Lambrechts, Diether, Yesilyurt, Betül T., Chrisiaens, Marie-Rose, Peeters, Stephanie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Couch, Fergus, Lee, Adam M., Diasio, Robert, Wang, Xianshu, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Maclean, Catriona, Offit, Ken, Robson, Mark, Joseph, Vijai, Gaudet, Mia, John, Esther M., Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Andrulis, Irene, Knight, Julia A., Marie Mulligan, Anna, OʼMalley, Frances P., Brinton, Louise A., Sherman, Mark E., Lissowska, Jolanta, Chanock, Stephen J., Hooning, Maartje, Martens, John W.M., van den Ouweland, Ans M.W., Collée, J. Margriet, Hall, Per, Czene, Kamila, Cox, Angela, Brock, Ian W., Reed, Malcolm W.R., Cross, Simon S., Pharoah, Paul, Dunning, Alison M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Shen, Chen-Yang, Ding, Shian-ling, Hsu, Huan-Ming, Yu, Jyh-Cherng, Anton-Culver, Hoda, Ziogas, Argyrios, Ashworth, Alan, Swerdlow, Anthony, Jones, Michael, Orr, Nick, Trentham-Dietz, Amy, Egan, Kathleen, Newcomb, Polly, Titus-Ernstoff, Linda, Easton, Doug, and Spurdle, Amanda B.

Published
2011
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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, 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. PALB2, CHEK2 and ATM rare variants and cancer risk:data from COGS

Author

Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen Bm, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Bojesen, Stig, Nordestgaard, Børge G, Kjaer, Susanne Krüger, Høgdall, Estrid, Høgdall, Claus K, Engelholm, Svend Aage, Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen Bm, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Bojesen, Stig, Nordestgaard, Børge G, Kjaer, Susanne Krüger, Høgdall, Estrid, Høgdall, Claus K, and Engelholm, Svend Aage

Abstract

BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant.RESULTS: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10(-5)), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10(-8)) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants.CONCLUSIONS: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

Published
2016

8. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype:findings from the Breast Cancer Association Consortium

Author

Figueroa, Jonine D, Garcia-Closas, Montserrat, Humphreys, Manjeet, Platte, Radka, Hopper, John L, Southey, Melissa C, Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K, Broeks, Annegien, Tollenaar, Rob A E M, Van't Veer, Laura J, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Strick, Reiner, Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Federik, Schneeweiss, Andreas, Sohn, Christof, Bojesen, Stig, Flyger, Henrik, Nordestgaard, Børge G, Benítez, Javier, Milne, Roger L, Ignacio Arias, Jose, Zamora, M Pilar, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Rahman, Nazneen, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Figueroa, Jonine D, Garcia-Closas, Montserrat, Humphreys, Manjeet, Platte, Radka, Hopper, John L, Southey, Melissa C, Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K, Broeks, Annegien, Tollenaar, Rob A E M, Van't Veer, Laura J, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Strick, Reiner, Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Federik, Schneeweiss, Andreas, Sohn, Christof, Bojesen, Stig, Flyger, Henrik, Nordestgaard, Børge G, Benítez, Javier, Milne, Roger L, Ignacio Arias, Jose, Zamora, M Pilar, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Rahman, Nazneen, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Dörk, Thilo, Schürmann, Peter, and Bremer, Michael

Abstract

A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), grade, node status, tumor size, and ductal or lobular morphology. We genotyped rs11249433 at 1p.11.2, and two highly correlated SNPs rs999737 and rs10483813 (r(2)= 0.98) at 14q24.1 (RAD51L1), for up to 46 036 invasive breast cancer cases and 46 930 controls from 39 studies. Analyses by tumor characteristics focused on subjects reporting to be white women of European ancestry and were based on 25 458 cases, of which 87% had ER data. The SNP at 1p11.2 showed significantly stronger associations with ER-positive tumors [per-allele odds ratio (OR) for ER-positive tumors was 1.13, 95% CI = 1.10-1.16 and, for ER-negative tumors, OR was 1.03, 95% CI = 0.98-1.07, case-only P-heterogeneity = 7.6 × 10(-5)]. The association with ER-positive tumors was stronger for tumors of lower grade (case-only P= 6.7 × 10(-3)) and lobular histology (case-only P= 0.01). SNPs at 14q24.1 were associated with risk for most tumor subtypes evaluated, including triple-negative breast cancers, which has not been described previously. Our results underscore the need for large pooling efforts with tumor pathology data to help refine risk estimates for SNP associations with susceptibility to different subtypes of breast cancer.

Published
2011

9. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Author

Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, Van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen Bm, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F, Flyger, Henrik, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A, Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Antonenkova, Natalia N, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Spurdle, Amanda B, Investigators, KConFab, Australian Ovarian Cancer Study Group, Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Olson, Janet E, Vachon, Celine, Pankratz, Vernon S, McLean, Catriona, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei, Hunter, David J, Lindstrom, Sara, Hankinson, Susan E, Kraft, Peter, Andrulis, Irene, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Jukkola-Vuorinen, Arja, Grip, Mervi, Kauppila, Saila, Devilee, Peter, Tollenaar, Robert AEM, Seynaeve, Caroline, Hollestelle, Antoinette, Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J, Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Eccles, Diana M, Rafiq, Sajjad, Tapper, William J, Gerty, Sue M, Hooning, Maartje J, Martens, John WM, Collée, J Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Brand, Judith S, Humphreys, Keith, Cox, Angela, Reed, Malcolm WR, Luccarini, Craig, Baynes, Caroline, Dunning, Alison M, Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rüdiger, Thomas, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Toland, Amanda E, Ambrosone, Christine B, Yannoukakos, Drakoulis, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, González-Neira, Anna, Pita, Guillermo, Alonso, M Rosario, Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C, Vincent, Daniel, Bacot, Francois, Simard, Jacques, Dumont, Martine, Soucy, Penny, Eeles, Rosalind, Muir, Kenneth, Wiklund, Fredrik, Gronberg, Henrik, Schleutker, Johanna, Nordestgaard, Børge G, Weischer, Maren, Travis, Ruth C, Neal, David, Donovan, Jenny L, Hamdy, Freddie C, Khaw, Kay-Tee, Stanford, Janet L, Blot, William J, Thibodeau, Stephen, Schaid, Daniel J, Kelley, Joseph L, Maier, Christiane, Kibel, Adam S, Cybulski, Cezary, Cannon-Albright, Lisa, Butterbach, Katja, Park, Jong, Kaneva, Radka, Batra, Jyotsna, Teixeira, Manuel R, Kote-Jarai, Zsofia, Olama, Ali Amin Al, Benlloch, Sara, Renner, Stefan P, Hartmann, Arndt, Hein, Alexander, Ruebner, Matthias, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambretchs, Sandrina, Doherty, Jennifer A, Rossing, Mary Anne, Nickels, Stefan, Eilber, Ursula, Wang-Gohrke, Shan, Odunsi, Kunle, Sucheston-Campbell, Lara E, Friel, Grace, Lurie, Galina, Killeen, Jeffrey L, Wilkens, Lynne R, Goodman, Marc T, Runnebaum, Ingo, Hillemanns, Peter A, Pelttari, Liisa M, Butzow, Ralf, Modugno, Francesmary, Edwards, Robert P, Ness, Roberta B, Moysich, Kirsten B, Du Bois, Andreas, Heitz, Florian, Harter, Philipp, Kommoss, Stefan, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Jensen, Allan, Kjaer, Susanne Krüger, Høgdall, Estrid, Peissel, Bernard, Bonanni, Bernardo, Bernard, Loris, Goode, Ellen L, Fridley, Brooke L, Vierkant, Robert A, Cunningham, Julie M, Larson, Melissa C, Fogarty, Zachary C, Kalli, Kimberly R, Liang, Dong, Lu, Karen H, Hildebrandt, Michelle AT, Wu, Xifeng, Levine, Douglas A, Dao, Fanny, Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S, Marks, Jeffrey R, Akushevich, Lucy, Cramer, Daniel W, Schildkraut, Joellen, Terry, Kathryn L, Poole, Elizabeth M, Stampfer, Meir, Tworoger, Shelley S, Bandera, Elisa V, Orlow, Irene, Olson, Sara H, Bjorge, Line, Salvesen, Helga B, Van Altena, Anne M, Aben, Katja KH, Kiemeney, Lambertus A, Massuger, Leon FAG, Pejovic, Tanja, Bean, Yukie, Brooks-Wilson, Angela, Kelemen, Linda E, Cook, Linda S, Le, Nhu D, Górski, Bohdan, Gronwald, Jacek, Menkiszak, Janusz, Høgdall, Claus K, Lundvall, Lene, Nedergaard, Lotte, Engelholm, Svend Aage, Dicks, Ed, Tyrer, Jonathan, Campbell, Ian, McNeish, Iain, Paul, James, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S, Rothstein, Joseph H, McGuire, Valerie, Sieh, Weiva, Cai, Hui, Shu, Xiao-Ou, Teten, Rachel T, Sutphen, Rebecca, McLaughlin, John R, Narod, Steven A, Phelan, Catherine M, Monteiro, Alvaro N, Fenstermacher, David, Lin, Hui-Yi, Permuth, Jennifer B, Sellers, Thomas A, Chen, Y Ann, Tsai, Ya-Yu, Chen, Zhihua, Gentry-Maharaj, Aleksandra, Gayther, Simon A, Ramus, Susan J, Menon, Usha, Wu, Anna H, Pearce, Celeste L, Van Den Berg, David, Pike, Malcolm C, Dansonka-Mieszkowska, Agnieszka, Plisiecka-Halasa, Joanna, Moes-Sosnowska, Joanna, Kupryjanczyk, Jolanta, Pharoah, Paul Dp, Song, Honglin, Winship, Ingrid, Chenevix-Trench, Georgia, Giles, Graham G, Tavtigian, Sean V, Easton, Doug F, and Milne, Roger L

Subjects
Male, Ovarian Neoplasms, Risk, Cancer: breast, Tumor Suppressor Proteins, cancer predisposition, Nuclear Proteins, Prostatic Neoplasms, Breast Neoplasms, Ataxia Telangiectasia Mutated Proteins, 3. Good health, Cancer: prostate, Cancer: ovary, Checkpoint Kinase 2, FOS: Biological sciences, Case-Control Studies, Mutation, Genetics, Humans, Female, Genetic Predisposition to Disease, Fanconi Anemia Complementation Group N Protein, Genetic Association Studies
Abstract

BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. RESULTS: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10-5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10-8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. CONCLUSIONS: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

10. PALB2, CHEK2 and ATM rare variants and cancer risk : data from COGS

Author

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Southey, Melissa C., Goldgar, David E., Winqvist, Robert, Pylkas, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D., Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J., Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L., Doerk, Thilo, Claes, Kathleen B. M., Reis Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A., Dowty, James G., Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J., Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guenel, Pascal, Therese Truong, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Menendez, Primitiva, Anton Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Bruening, Thomas, Ko, Yon Dschun, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Antonenkova, Natalia N., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Spurdle, Amanda B., Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch Janys, Dieter, Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnaes, Grethe Grenaker, Zheng, Wei, Hunter, David J., Lindstrom, Sara, Hankinson, Susan E., Kraft, Peter, Andrulis, Irene, Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Jukkola Vuorinen, Arja, Grip, Mervi, Kauppila, Saila, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Hollestelle, Antoinette, Garcia Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Eccles, Diana M., Rafiq, Sajjad, Tapper, William J., Gerty, Sue M., Hooning, Maartje J., Martens, John W. M., Collee, J. Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Brand, Judith S., Humphreys, Keith, Cox, Angela, Reed, Malcolm W. R., Luccarini, Craig, Baynes, Caroline, Dunning, Alison M., Hamann, Ute, Torres López, Diana María, Ulmer, Hans Ulrich, Ruediger, Thomas, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Gonzalez Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Simard, Jacques, Dumont, Martine, Soucy, Penny, Eeles, Rosalind, Muir, Kenneth, Wiklund, Fredrik, Gronberg, Henrik, Schleutker, Johanna, Nordestgaard, Borge G., Weischer, Maren, Travis, Ruth C., Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Khaw, Kay Tee, Stanford, Janet L., Blot, William J., Thibodeau, Stephen, Schaid, Daniel J., Kelley, Joseph L., Maier, Christiane, Kibel, Adam S., Cybulski, Cezary, Cannon Albright, Lisa, Butterbach, Katja, Park, Jong, Kaneva, Radka, Batra, Jyotsna, Teixeira, Manuel R., Kote-Jarai, Zsofia, Al Olama, Ali Amin, Benlloch, Sara, Renner, Stefan P., Hartmann, Arndt, Hein, Alexander, Ruebner, Matthias, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambretchs, Sandrina, Doherty, Jennifer A., Rossing, Mary Anne, Nickels, Stefan, Eilber, Ursula, Wang Gohrke, Shan, Odunsi, Kunle, Sucheston Campbell, Lara E., Friel, Grace, Lurie, Galina, Killeen, Jeffrey L., Wilkens, Lynne R., Goodman, Marc T., Runnebaum, Ingo, Hillemanns, Peter A., Pelttari, Liisa M., Butzow, Ralf, Modugno, Francesmary, Edwards, Robert P., Ness, Roberta B., Moysich, Kirsten B., du Bois, Andreas, Heitz, Florian, Harter, Philipp, Kommoss, Stefan, Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Jensen, Allan, Kjaer, Susanne Kruger, Hogdall, Estrid, Peissel, Bernard, Bonanni, Bernardo, Bernard, Loris, Goode, Ellen L., Fridley, Brooke L., Vierkant, Robert A., Cunningham, Julie M., Larson, Melissa C., Fogarty, Zachary C., Kalli, Kimberly R., Liang, Dong, Lu, Karen H., Hildebrandt, Michelle A. T., Wu, Xifeng, Levine, Douglas A., Dao, Fanny, Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S., Marks, Jeffrey R., Akushevich, Lucy, Cramer, Daniel W., Schildkraut, Joellen, Terry, Kathryn L., Poole, Elizabeth M., Stampfer, Meir, Tworoger, Shelley S., Bandera, Elisa V., Orlow, Irene, Olson, Sara H., Bjorge, Line, Salvesen, Helga B., van Altena, Anne M., Aben, Katja K. H., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Pejovic, Tanja, Bean, Yukie, Brooks Wilson, Angela, Kelemen, Linda E., Cook, Linda S., Le, Nhu D., Grski, Bohdan, Gronwald, Jacek, Menkiszak, Janusz, Hogdall, Claus K., Lundvall, Lene, Nedergaard, Lotte, Engelholm, Svend Aage, Dicks, Ed, Tyrer, Jonathan, Campbell, Ian, McNeish, Iain, Paul, James, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S., Rothstein, Joseph H., McGuire, Valerie, Sieh, Weiva, Cai, Hui, Shu, Xiao-Ou, Teten, Rachel T., Sutphen, Rebecca, McLaughlin, John R., Narod, Steven A., Phelan, Catherine M., Monteiro, Alvaro N., Fenstermacher, David, Lin, Hui Yi, Permuth, Jennifer B., Sellers, Thomas A., Chen, Y. Ann, Tsai, Ya Yu, Chen, Zhihua, Gentry Maharaj, Aleksandra, Gayther, Simon A., Ramus, Susan J., Menon, Usha, Wu, Anna H., Pearce, Celeste L., Van den Berg, David, Pike, Malcolm C., Dansonka Mieszkowska, Agnieszka, Plisiecka Halasa, Joanna, Moes Sosnowska, Joanna, Kupryjanczyk, Jolanta, Pharoah, Paul D. P., Song, Honglin, Winship, Ingrid, Chenevix Trench, Georgia, Giles, Graham G., Tavtigian, Sean V., Easton, Doug F., Milne, Roger L., Menegaux, Florence, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Southey, Melissa C., Goldgar, David E., Winqvist, Robert, Pylkas, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D., Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J., Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L., Doerk, Thilo, Claes, Kathleen B. 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11. A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium.

Author

Milne RL, Herranz J, Michailidou K, Dennis J, Tyrer JP, Zamora MP, Arias-Perez JI, González-Neira A, Pita G, Alonso MR, Wang Q, Bolla MK, Czene K, Eriksson M, Humphreys K, Darabi H, Li J, Anton-Culver H, Neuhausen SL, Ziogas A, Clarke CA, Hopper JL, Dite GS, Apicella C, Southey MC, Chenevix-Trench G, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Bojesen SE, Nordestgaard BG, Flyger H, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Dunning AM, Shah M, Guénel P, Truong T, Sanchez M, Mulot C, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, Collée JM, Jager A, Cox A, Brock IW, Reed MW, Devilee P, Tollenaar RA, Seynaeve C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Dumont M, Soucy P, Dörk T, Bogdanova NV, Hamann U, Försti A, Rüdiger T, Ulmer HU, Fasching PA, Häberle L, Ekici AB, Beckmann MW, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Radice P, Peterlongo P, Peissel B, Mariani P, Giles GG, Severi G, Baglietto L, Sawyer E, Tomlinson I, Kerin M, Miller N, Marme F, Burwinkel B, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Alnæs GG, Kristensen V, Børresen-Dale AL, García-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Schmidt MK, Broeks A, Verhoef S, Rutgers EJ, Brauch H, Brüning T, Ko YD, Couch FJ, Toland AE, Yannoukakos D, Pharoah PD, Hall P, Benítez J, Malats N, and Easton DF

Subjects
Case-Control Studies, Epistasis, Genetic genetics, Female, Genome-Wide Association Study, Humans, Logistic Models, Polymorphism, Single Nucleotide, Breast Neoplasms genetics, Genetic Predisposition to Disease
Abstract

Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all two-way interactions in breast cancer susceptibility between 70,917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. Thirty-eight international studies contributed data for 46,450 breast cancer cases and 42,461 controls of European origin as part of a multi-consortium project (COGS). First, SNPs were preselected based on evidence (P < 0.01) of a per-allele main effect, and all two-way combinations of those were evaluated by a per-allele (1 d.f.) test for interaction using logistic regression. Second, all 2.5 billion possible two-SNP combinations were evaluated using Boolean operation-based screening and testing, and SNP pairs with the strongest evidence of interaction (P < 10(-4)) were selected for more careful assessment by logistic regression. Under the first approach, 3277 SNPs were preselected, but an evaluation of all possible two-SNP combinations (1 d.f.) identified no interactions at P < 10(-8). Results from the second analytic approach were consistent with those from the first (P > 10(-10)). In summary, we observed little evidence of two-way SNP interactions in breast cancer susceptibility, despite the large number of SNPs with potential marginal effects considered and the very large sample size. This finding may have important implications for risk prediction, simplifying the modelling required. Further comprehensive, large-scale genome-wide interaction studies may identify novel interacting loci if the inherent logistic and computational challenges can be overcome.

Published
2014
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