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153. 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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154. Patterns of Metastatic Recurrence of Genetically Confirmed Myxoid Liposarcoma.

Author

Homsy, Pauliina, Böhling, Tom, Seitsonen, Anne, Sampo, Mika, Tukiainen, Erkki, and Blomqvist, Carl

Abstract

Background: Most sarcomas metastasize predominantly to the lungs, and chest x-ray, or computed tomography, is the most commonly used staging investigation. Myxoid liposarcomas (MLSs) are rare tumors with a tendency to metastasize to extrapulmonary loci. The aim of this study was to assess the locations of the first metastases in MLS patients, to guide the design of effective staging and follow-up imaging protocols. Methods: Patients treated for MLS between 1987 and 2017 were identified in a prospectively maintained register. Histology of the tumors was reassessed. In addition, the presence of one of the pathognomonic gene translocations was confirmed, uniquely for a retrospective series. The surgical and oncological outcomes were reviewed. A comprehensive review of the literature was performed on the metastatic pattern of MLS, including series with 10 or more MLS patients with metastatic disease. Results: A total of 32 patients with genetically confirmed MLS were identified, with a median follow-up of 7.6 years. Seven patients (22%) developed metastatic disease, five initially intra-abdominally and only one to the lungs. The comprehensive review included 14 series with 1853 patients, 348 (19%) of whom had metastases. The location of the first metastases was soft tissues in 32% of patients, intra-abdominal in 26%, pulmonary in 24%, and bone in 17%. Conclusions: MLSs metastasize often intra-abdominally and to extra-abdominal soft tissues. Thus, whole-body imaging may be indicated during the initial assessment and follow-up of these patients. [ABSTRACT FROM AUTHOR]

Published
2023
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156. Association analysis identifies 65 new breast cancer risk loci

Author

Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E., Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomäki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, François, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldés, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., David Cheng, Ting-Yuan, Seng Chia, Kee, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Collée, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Grenaker Alnæs, Grethe I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Krüger, Ute, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Neng Lee, Chuen, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., Ma, Edmond S. K., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menéndez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Taib, Nur Aishah Mohd, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Børge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Rüdiger, Thomas, Rudolph, Anja, Ruebner, Matthias, Rutgers, Emiel J. T., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengström, Maria, Teo, Soo H., Beth Terry, Mary, Tessier, Daniel C., Thanasitthichai, Somchai, Thöne, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Har Yip, Cheng, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., Pharoah, Paul D. P., Chang-Claude, Jenny, Hall, Per, Hunter, David J., Milne, Roger L., García-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Peter, and Easton, Douglas F.

Published
2017
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157. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

Author

Dixon-Suen, Suzanne C, Lewis, Sarah J, Martin, Richard M, English, Dallas R, Boyle, Terry, Giles, Graham G, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Investigators, Abctb, Ahearn, Thomas U, Ambrosone, Christine B, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Auvinen, Päivi, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S, Camp, Nicola J, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Cessna, Melissa H, Chang-Claude, Jenny, Chanock, Stephen J, Clarke, Christine L, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Goldberg, Mark S, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Häberle, Lothar, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N, Harvie, Michelle, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J, Hoppe, Reiner, Hopper, John, Howell, Anthony, Hunter, David J, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Loibl, Sibylle, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Menon, Usha, Mulligan, Anna Marie, Murphy, Rachel A, Collaborators, Nbcs, Nevanlinna, Heli, Nevelsteen, Ines, Newman, William G, Offit, Kenneth, Olshan, Andrew F, Olsson, Håkan, Orr, Nick, Patel, Alpa, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Rees-Punia, Erika, Rennert, Gad, Rennert, Hedy S, Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P, Schmidt, Marjanka K, Schmutzler, Rita K, Schwentner, Lukas, Scott, Christopher, Shah, Mitul, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C, Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Terry, Mary Beth, Tollenaar, Rob AEM, Troester, Melissa A, Truong, Thérèse, Untch, Michael, Vachon, Celine M, Joseph, Vijai, Wappenschmidt, Barbara, Weinberg, Clarice R, Wolk, Alicja, Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M, Pharoah, Paul DP, Easton, Douglas F, Milne, Roger L, Lynch, Brigid M, Breast Cancer Association Consortium, Law and Economics, Medical Oncology, Dixon-Suen, Suzanne C [0000-0003-3714-8386], Boyle, Terry [0000-0001-6741-330X], Romero, Atocha [0000-0002-1634-7397], Lynch, Brigid M [0000-0001-8060-547X], Apollo - University of Cambridge Repository, Dixon-Suen, Suzanne C, Lewis, Sarah J, Martin, Richard M, English, Dallas R, Boyle, Terry, Lynch, Brigid M, ABCTB Investigators, NBCS Collaborators, and Breast Canc Assoc Consortium

Subjects
Breast Neoplasms, Physical Therapy, Sports Therapy and Rehabilitation, Polymorphism, Single Nucleotide, Article, Basic medicine, breast cancer risk, SDG 3 - Good Health and Well-being, Risk Factors, sedentary behaviour, Genetics, Humans, Orthopedics and Sports Medicine, Breast, causal inference, Exercise, Manchester Cancer Research Centre, Physical activity, genetic variants, Breast Neoplasms/epidemiology, ResearchInstitutes_Networks_Beacons/mcrc, General Medicine, Mendelian Randomization Analysis, FOS: Biological sciences, Clinical medicine, instruments, physical inactivity, Sedentary Behaviour, Female, ICEP, Sedentary Behavior
Abstract

ObjectivesPhysical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses causality by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or sedentary time, assessed using genotype, may be causally associated with breast cancer risk overall, pre/post-menopause, and by case-groups defined by tumour characteristics.MethodsWe performed two-sample inverse-variance-weighted MR using individual-level Breast Cancer Association Consortium case-control data from 130 957 European-ancestry women (69 838 invasive cases), and published UK Biobank data (n=91 105–377 234). Genetic instruments were single nucleotide polymorphisms (SNPs) associated in UK Biobank with wrist-worn accelerometer-measured overall physical activity (nsnps=5) or sedentary time (nsnps=6), or accelerometer-measured (nsnps=1) or self-reported (nsnps=5) vigorous physical activity.ResultsGreater genetically-predicted overall activity was associated with lower breast cancer overall risk (OR=0.59; 95% confidence interval (CI) 0.42 to 0.83 per-standard deviation (SD;~8 milligravities acceleration)) and for most case-groups. Genetically-predicted vigorous activity was associated with lower risk of pre/perimenopausal breast cancer (OR=0.62; 95% CI 0.45 to 0.87,≥3 vs. 0 self-reported days/week), with consistent estimates for most case-groups. Greater genetically-predicted sedentary time was associated with higher hormone-receptor-negative tumour risk (OR=1.77; 95% CI 1.07 to 2.92 per-SD (~7% time spent sedentary)), with elevated estimates for most case-groups. Results were robust to sensitivity analyses examining pleiotropy (including weighted-median-MR, MR-Egger).ConclusionOur study provides strong evidence that greater overall physical activity, greater vigorous activity, and lower sedentary time are likely to reduce breast cancer risk. More widespread adoption of active lifestyles may reduce the burden from the most common cancer in women.

Published
2022
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158. Incorporating progesterone receptor expression into the PREDICT breast prognostic model

Author

Grootes, Isabelle, Keeman, Renske, Blows, Fiona M, Milne, Roger L, Giles, Graham G, Swerdlow, Anthony J, Fasching, Peter A, Abubakar, Mustapha, Andrulis, Irene L, Anton-Culver, Hoda, Beckmann, Matthias W, Blomqvist, Carl, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Briceno, Ignacio, Burwinkel, Barbara, Camp, Nicola J, Castelao, Jose E, Choi, Ji-Yeob, Clarke, Christine L, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dunning, Alison M, Dwek, Miriam, Easton, Douglas F, Eccles, Diana M, Eriksson, Mikael, Ernst, Kristina, Evans, D Gareth, Figueroa, Jonine D, Fink, Visnja, Floris, Giuseppe, Fox, Stephen, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Sáenz, José A, González-Neira, Anna, Haeberle, Lothar, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartman, Mikael, Hein, Alexander, Hooning, Maartje J, Hou, Ming-Feng, Howell, Sacha J, ABCTB Investigators, kConFab Investigators, Ito, Hidemi, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kang, Daehee, Kristensen, Vessela N, Kwong, Ava, Lambrechts, Diether, Li, Jingmei, Lubiński, Jan, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Taib, Nur Aishah Mohd, Mulligan, Anna Marie, Nevanlinna, Heli, Newman, William G, Offit, Kenneth, Osorio, Ana, Park, Sue K, Park-Simon, Tjoung-Won, Patel, Alpa V, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rennert, Gad, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J, Schneeweiss, Andreas, Schochter, Fabienne, Schoemaker, Minouk J, Shen, Chen-Yang, Shibli, Rana, Sinn, Peter, Tapper, William J, Tawfiq, Essa, Teo, Soo Hwang, Teras, Lauren R, Torres, Diana, Vachon, Celine M, van Deurzen, Carolien HM, Wendt, Camilla, Williams, Justin A, Winqvist, Robert, Elwood, Mark, Schmidt, Marjanka K, García-Closas, Montserrat, Pharoah, Paul DP, Easton, Douglas [0000-0003-2444-3247], Pharoah, Paul [0000-0001-8494-732X], and Apollo - University of Cambridge Repository

Subjects
breast cancer, Receptor, ErbB-2, Humans, PREDICT Breast, Breast Neoplasms, Female, Prognosis, Receptors, Progesterone, Progesterone, Progesterone receptor
Abstract

BACKGROUND: Predict Breast (www.predict.nhs.uk) is an online prognostication and treatment benefit tool for early invasive breast cancer. The aim of this study was to incorporate the prognostic effect of progesterone receptor (PR) status into a new version of PREDICT and to compare its performance to the current version (2.2). METHOD: The prognostic effect of PR status was based on the analysis of data from 45,088 European patients with breast cancer from 49 studies in the Breast Cancer Association Consortium. Cox proportional hazard models were used to estimate the hazard ratio for PR status. Data from a New Zealand study of 11,365 patients with early invasive breast cancer were used for external validation. Model calibration and discrimination were used to test the model performance. RESULTS: Having a PR-positive tumour was associated with a 23% and 28% lower risk of dying from breast cancer for women with oestrogen receptor (ER)-negative and ER-positive breast cancer, respectively. The area under the ROC curve increased with the addition of PR status from 0.807 to 0.809 for patients with ER-negative tumours (p = 0.023) and from 0.898 to 0.902 for patients with ER-positive tumours (p = 2.3 × 10-6) in the New Zealand cohort. Model calibration was modest with 940 observed deaths compared to 1151 predicted. CONCLUSION: The inclusion of the prognostic effect of PR status to PREDICT Breast has led to an improvement of model performance and more accurate absolute treatment benefit predictions for individual patients. Further studies should determine whether the baseline hazard function requires recalibration.

Published
2022
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160. Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes

Author

Purrington, Kristen S., Visscher, Daniel W., Wang, Chen, Yannoukakos, Drakoulis, Hamann, Ute, Nevanlinna, Heli, Cox, Angela, Giles, Graham G., Eckel-Passow, Jeanette E., Lakis, Sotiris, Kotoula, Vassiliki, Fountzilas, George, Kabisch, Maria, Rüdiger, Thomas, Heikkilä, Päivi, Blomqvist, Carl, Cross, Simon S., Southey, Melissa C., Olson, Janet E., Gilbert, Judy, Deming-Halverson, Sandra, Kosma, Veli-Matti, Clarke, Christine, Scott, Rodney, Jones, J. Louise, Zheng, Wei, Mannermaa, Arto, Eccles, Diana M., Vachon, Celine M., Couch, Fergus J., and Jane Carpenter for ABCTC Investigators

Published
2016
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164. Factors predicting long-term physical activity of breast cancer survivors. 5-year-follow-up of the BREX exercise intervention study

Author

Kokkonen, Kristiina, primary, Kellokumpu-Lehtinen, Pirkko-Liisa, additional, Kankaanpää, Markku, additional, Nikander, Riku, additional, Penttinen, Heidi Maria, additional, Utriainen, Meri, additional, Vehmanen, Leena, additional, Huovinen, Riikka, additional, Kautiainen, Hannu, additional, Blomqvist, Carl, additional, and Saarto, Tiina, additional

Published
2022
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165. PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~200,000 patients

Author

Giardiello, Daniele, primary, Hooning, Maartje J, additional, Hauptmann, Michael, additional, Keeman, Renske, additional, Heemskerk-Gerritsen, Bernadette A. M, additional, Becker, Heiko, additional, Blomqvist, Carl, additional, Bojesen, Stig E, additional, Bolla, Manjeet K, additional, Camp, Nicola J, additional, Czene, Kamila, additional, Devilee, Peter, additional, Eccles, Diana M, additional, Fasching, Peter A, additional, Figueroa, Jonine D, additional, Flyger, Henrik, additional, García-Closas, Montserrat, additional, Haiman, Christopher A, additional, Hamann, Ute, additional, Hopper, John L, additional, Jakubowska, Anna, additional, Leeuwen, Floor E, additional, Lindblom, Annika, additional, Lubiński, Jan, additional, Margolin, Sara, additional, Martinez, Maria Elena, additional, Nevanlinna, Heli, additional, Nevelsteen, Ines, additional, Pelders, Saskia, additional, Pharoah, Paul D.P, additional, Siesling, Sabine, additional, Southey, Melissa C, additional, Hout, Annemieke H van der, additional, Hest, Liselotte P van, additional, Chang-Claude, Jenny, additional, Hall, Per, additional, Easton, Douglas F, additional, Steyerberg, Ewout W, additional, and Schmidt, Marjanka K, additional

Published
2022
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166. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Author

Meeks, Huong D., Song, Honglin, Michailidou, Kyriaki, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Barrowdale, Daniel, Frost, Debra, McGuffog, Lesley, Ellis, Steve, Feng, Bingjian, Buys, Saundra S., Hopper, John L., Southey, Melissa C., Tesoriero, Andrea, James, Paul A., Bruinsma, Fiona, Campbell, Ian G., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Beckman, Matthias W., Fasching, Peter A., Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Riboli, Elio, Banerjee, Susana, Menon, Usha, Tomlinson, Ian, Burwinkel, Barbara, Hamann, Ute, Marme, Frederik, Rudolph, Anja, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Garber, Judy, Cramer, Daniel, Terry, Kathryn L., Poole, Elizabeth M., Tworoger, Shelley S., Dorfling, Cecilia M., van Rensburg, Elizabeth J., Godwin, Andrew K., Guénel, Pascal, Truong, Thérèse, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Mazoyer, Sylvie, Sinilnikova, Olga M., Isaacs, Claudine, Maugard, Christine, Bojesen, Stig E., Flyger, Henrik, Gerdes, Anne-Marie, Hansen, Thomas V. O., Jensen, Allen, Kjaer, Susanne K., Hogdall, Claus, Hogdall, Estrid, Pedersen, Inge Sokilde, Thomassen, Mads, Benitez, Javier, González-Neira, Anna, Osorio, Ana, Hoya, Miguel de la, Segura, Pedro Perez, Diez, Orland, Lazaro, Conxi, Brunet, Joan, Anton-Culver, Hoda, Eunjung, Lee, John, Esther M., Neuhausen, Susan L., Ding, Yuan Chun, Castillo, Danielle, Weitzel, Jeffrey N., Ganz, Patricia A., Nussbaum, Robert L., Chan, Salina B., Karlan, Beth Y., Lester, Jenny, Wu, Anna, Gayther, Simon, Ramus, Susan J., Sieh, Weiva, Whittermore, Alice S., Monteiro, Alvaro N. A., Phelan, Catherine M., Terry, Mary Beth, Piedmonte, Marion, Offit, Kenneth, Robson, Mark, Levine, Douglas, Moysich, Kirsten B., Cannioto, Rikki, Olson, Sara H., Daly, Mary B., Nathanson, Katherine L., Domchek, Susan M., Lu, Karen H., Liang, Dong, Hildebrant, Michelle A. T., Ness, Roberta, Modugno, Francesmary, Pearce, Leigh, Goodman, Marc T., Thompson, Pamela J., Brenner, Hermann, Butterbach, Katja, Meindl, Alfons, Hahnen, Eric, Wappenschmidt, Barbara, Brauch, Hiltrud, Brüning, Thomas, Blomqvist, Carl, Khan, Sofia, Nevanlinna, Heli, Pelttari, Liisa M., Aittomäki, Kristiina, Butzow, Ralf, Bogdanova, Natalia V., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Rantala, Johanna, Kosma, Veli-Matti, Mannermaa, Arto, Lambrechts, Diether, Neven, Patrick, Claes, Kathleen B. M., Maerken, Tom Van, Chang-Claude, Jenny, Flesch-Janys, Dieter, Heitz, Florian, Varon-Mateeva, Raymonda, Peterlongo, Paolo, Radice, Paolo, Viel, Alessandra, Barile, Monica, Peissel, Bernard, Manoukian, Siranoush, Montagna, Marco, Oliani, Cristina, Peixoto, Ana, Teixeira, Manuel R., Collavoli, Anita, Hallberg, Emily, Olson, Janet E., Goode, Ellen L., Hart, Steven N., Shimelis, Hermela, Cunningham, Julie M., Giles, Graham G., Milne, Roger L., Healey, Sue, Tucker, Kathy, Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Tischkowitz, Marc, Simard, Jacques, Soucy, Penny, Eccles, Diana M., Le, Nhu, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Salvesen, Helga B., Bjorge, Line, Bandera, Elisa V., Risch, Harvey, Zheng, Wei, Beeghly-Fadiel, Alicia, Cai, Hui, Pylkäs, Katri, Tollenaar, Robert A. E. M., Ouweland, Ans M. W. van der, Andrulis, Irene L., Knight, Julia A., Narod, Steven, Devilee, Peter, Winqvist, Robert, Figueroa, Jonine, Greene, Mark H., Mai, Phuong L., Loud, Jennifer T., García-Closas, Montserrat, Schoemaker, Minouk J., Czene, Kamila, Darabi, Hatef, McNeish, Iain, Siddiquil, Nadeem, Glasspool, Rosalind, Kwong, Ava, Park, Sue K., Teo, Soo Hwang, Yoon, Sook-Yee, Matsuo, Keitaro, Hosono, Satoyo, Woo, Yin Ling, Gao, Yu-Tang, Foretova, Lenka, Singer, Christian F., Rappaport-Feurhauser, Christine, Friedman, Eitan, Laitman, Yael, Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Olopade, Olufunmilayo I., Senter, Leigha, Olah, Edith, Doherty, Jennifer A., Schildkraut, Joellen, Koppert, Linetta B., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Cook, Linda S., Pejovic, Tanja, Li, Jingmei, Borg, Ake, Öfverholm, Anna, Rossing, Mary Anne, Wentzensen, Nicolas, Henriksson, Karin, Cox, Angela, Cross, Simon S., Pasini, Barbara J., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Agnarsson, Bjarni A., Kupryjanczyk, Jolanta, Moes-Sosnowska, Joanna, Fostira, Florentia, Konstantopoulou, Irene, Slager, Susan, Jones, Michael, Antoniou, Antonis C., Berchuck, Andrew, Swerdlow, Anthony, Chenevix-Trench, Georgia, Dunning, Alison M., Pharoah, Paul D. P., Hall, Per, Easton, Douglas F., Couch, Fergus J., Spurdle, Amanda B., and Goldgar, David E.

Published
2016
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167. Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

Author

Breast Cancer Association Consortium, Mavaddat, Nasim, Dorling, Leila, Carvalho, Sara, Allen, Jamie, González-Neira, Anna, Keeman, Renske, Bolla, Manjeet K, Dennis, Joe, Wang, Qin, Ahearn, Thomas U, Andrulis, Irene L, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Briceno, Ignacio, Brüning, Thomas, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Christiansen, Hans, Czene, Kamila, Dörk, Thilo, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine D, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Geisler, Jürgen, Giles, Graham G, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Hartikainen, Jaana M, Hartman, Mikael, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza K, Kristensen, Vessela N, Li, Jingmei, Lim, Swee Ho, Lindblom, Annika, Loizidou, Maria A, Lophatananon, Artitaya, Lubinski, Jan, Madsen, Michael J, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Mohd Taib, Nur Aishah, Morra, Anna, Muir, Kenneth, Obi, Nadia, Osorio, Ana, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Sim, Xueling, Southey, Melissa C, Thorne, Heather, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Yip, Cheng Har, Spurdle, Amanda B, Vreeswijk, Maaike PG, Dunning, Alison M, García-Closas, Montserrat, Pharoah, Paul DP, Kvist, Anders, Muranen, Taru A, Nevanlinna, Heli, Teo, Soo Hwang, Devilee, Peter, Schmidt, Marjanka K, Easton, Douglas F, Mavaddat, Nasim [0000-0003-0307-055X], Wilson, Leila [0000-0003-1214-8080], Dennis, Joe [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Medicum, Clinicum, Department of Oncology, HUS Comprehensive Cancer Center, Research Program in Systems Oncology, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, and Biosciences

Subjects
EXPRESSION, Adult, Cancer Research, Adolescent, CHK2, 3122 Cancers, Genes, BRCA2, Breast Neoplasms, SUBTYPES, ACTIVATION, SUBCLASSES, Young Adult, BRCA2 MUTATION CARRIERS, PRIMARY THERAPY, Online First, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Original Investigation, Aged, MOLECULAR PORTRAITS, Research, INTERNATIONAL EXPERT CONSENSUS, Middle Aged, Germ Cells, Oncology, Case-Control Studies, PALB2, Female, Comments
Abstract

Key Points Question What breast tumor characteristics are associated with rare pathogenic protein truncating or missense variants in breast cancer susceptibility genes? Findings In this case-control study involving 46 387 control participants and 42 680 women with a diagnosis of breast cancer, pathology features (eg, tumor subtype, morphology, size, TNM stage, and lymph node involvement) associated with rare germline (likely) pathogenic variants in 9 different breast cancer susceptibility genes were studied. Substantial differences in tumor subtype distribution by gene were found. Meaning The results of this study suggest that tumor subtypes differ by gene; these findings can potentially inform guidelines for gene panel testing, risk prediction in unaffected individuals, variant classification, and understanding of breast cancer etiology., Importance Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes are unclear. This information is relevant to guidelines for gene panel testing and risk prediction. Objective To characterize tumors associated with BC susceptibility genes in large-scale population- or hospital-based studies. Design, Setting, and Participants The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients and 46 387 control participants, comprising women aged 18 to 79 years who were sampled independently of family history from 38 studies. Studies were conducted between 1991 and 2016. Sequencing and analysis took place between 2016 and 2021. Exposures Protein-truncating variants and likely pathogenic missense variants in ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53. Main Outcomes and Measures The intrinsic-like BC subtypes as defined by estrogen receptor, progesterone receptor, and ERBB2 (formerly known as HER2) status, and tumor grade; morphology; size; stage; lymph node involvement; subtype-specific odds ratios (ORs) for carrying protein-truncating variants and pathogenic missense variants in the 9 BC susceptibility genes. Results The mean (SD) ages at interview (control participants) and diagnosis (cases) were 55.1 (11.9) and 55.8 (10.6) years, respectively; all participants were of European or East Asian ethnicity. There was substantial heterogeneity in the distribution of intrinsic subtypes by gene. RAD51C, RAD51D, and BARD1 variants were associated mainly with triple-negative disease (OR, 6.19 [95% CI, 3.17-12.12]; OR, 6.19 [95% CI, 2.99-12.79]; and OR, 10.05 [95% CI, 5.27-19.19], respectively). CHEK2 variants were associated with all subtypes (with ORs ranging from 2.21-3.17) except for triple-negative disease. For ATM variants, the association was strongest for the hormone receptor (HR)+ERBB2− high-grade subtype (OR, 4.99; 95% CI, 3.68-6.76). BRCA1 was associated with increased risk of all subtypes, but the ORs varied widely, being highest for triple-negative disease (OR, 55.32; 95% CI, 40.51-75.55). BRCA2 and PALB2 variants were also associated with triple-negative disease. TP53 variants were most strongly associated with HR+ERBB2+ and HR–ERBB2+ subtypes. Tumors occurring in pathogenic variant carriers were of higher grade. For most genes and subtypes, a decline in ORs was observed with increasing age. Together, the 9 genes were associated with 27.3% of all triple-negative tumors in women 40 years or younger. Conclusions and Relevance The results of this case-control study suggest that variants in the 9 BC risk genes differ substantially in their associated pathology but are generally associated with triple-negative and/or high-grade disease. Knowing the age and tumor subtype distributions associated with individual BC genes can potentially aid guidelines for gene panel testing, risk prediction, and variant classification and guide targeted screening strategies., This case-control study examines tumors associated with breast cancer susceptibility genes in large-scale population- or hospital-based studies.

Published
2022
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168. Common variants in breast cancer risk loci predispose to distinct tumor subtypes.

Author

Ahearn, Thomas U, Ahearn, Thomas U, Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Lush, Michael, Wang, Qin, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Alnæs, Grethe I Grenaker, Grip, Mervi, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette AM, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, ABCTB Investigators, kConFab/AOCS Investigators, Jakimovska, Milena, Jakubowska, Anna, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N, Krüger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W, Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G, Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J, Mannermaa, Arto, Manoochehri, Mehdi, Ahearn, Thomas U, Ahearn, Thomas U, Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Lush, Michael, Wang, Qin, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Alnæs, Grethe I Grenaker, Grip, Mervi, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette AM, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, ABCTB Investigators, kConFab/AOCS Investigators, Jakimovska, Milena, Jakubowska, Anna, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N, Krüger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W, Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G, Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J, Mannermaa, Arto, and Manoochehri, Mehdi

Abstract

BackgroundGenome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear.MethodsAmong 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes.ResultsEighty-five of 173 variants were associated with at least one tumor feature (false discovery rate < 5%), most commonly ER and grade, followed by PR and HER2. Models for intrinsic-like subtypes found nearly all of these variants (83 of 85) associated at p < 0.05 with risk for at least one luminal-like subtype, and approximately half (41 of 85) of the variants were associated with risk of at least one non-luminal subtype, including 32 variants associated with triple-negative (TN) disease. Ten variants were associated with risk of all subtypes in different magnitude. Five variants were associated with risk of luminal A-like and TN subtypes in opposite directions.ConclusionThis report demonstrates a high level of complexity in the etiology heterogeneity of breast cancer susceptibility variants and can inform investigations of subtype-specific risk prediction.

Published
2022

169. Correlation of tumour subtype with long-term outcome in small breast carcinomas : a Swedish population-based retrospective cohort study

Author

Rask, Gunilla, Nazemroaya, Anoosheh, Jansson, Malin, Wadsten, Charlotta, Nilsson, Greger, Blomqvist, Carl, Holmberg, Lars, Wärnberg, Fredrik, Sund, Malin, Rask, Gunilla, Nazemroaya, Anoosheh, Jansson, Malin, Wadsten, Charlotta, Nilsson, Greger, Blomqvist, Carl, Holmberg, Lars, Wärnberg, Fredrik, and Sund, Malin

Abstract

Purpose: To investigate if molecular subtype is associated with outcome in stage 1 breast cancer (BC). Methods: Tissue samples from 445 women with node-negative BC ≤ 15 mm, treated in 1986–2004, were classified into surrogate molecular subtypes [Luminal A-like, Luminal B-like (HER2−), HER2-positive, and triple negative breast cancer (TNBC)]. Information on treatment, recurrences, and survival were gathered from medical records. Results: Tumour subtype was not associated with overall survival (OS). Luminal B-like (HER2−) and TNBC were associated with higher incidence of distant metastasis at 20 years (Hazard ratio (HR) 2.26; 95% CI 1.08–4.75 and HR 3.24; 95% CI 1.17–9.00, respectively). Luminal B-like (HER2−) and TNBC patients also had worse breast cancer-specific survival (BCSS), although not statistically significant (HR 1.53; 95% CI 0.70–3.33 and HR 1.89; 95% CI 0.60–5.93, respectively). HER2-positive BC was not associated with poor outcome despite no patient receiving HER2-targeted therapy, with most of these tumours being ER+. Conclusions: Stage 1 TNBC or Luminal B-like (HER2−) tumours behave more aggressively. Women with HER2+/ER+ tumours do not have an increased risk of distant metastasis or death, absent targeted treatment.

Published
2022
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170. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Author

Ahearn, Thomas U., Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Lush, Michael, Wang, Qin, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Collee, J. Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dork, Thilo, Dwek, Miriam, Eccles, Diana M., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M., Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., Gonzalez-Neira, Anna, Alnaes, Grethe I. Grenaker, Grip, Mervi, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N., Kruger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W., Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G., Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, McLean, Catriona, Meindl, Alfons, Menon, Usha, Nevanlinna, Heli, Newman, William G., Nodora, Jesse, Offit, Kenneth, Olsson, Hakan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa, V, Peto, Julian, Pita, Guillermo, Plaseska-Karanfilska, Dijana, Prentice, Ross, Punie, Kevin, Pylkas, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, Ruediger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Schoemaker, Minouk J., Schottker, Ben, Sherman, Mark E., Shu, Xiao-Ou, Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teras, Lauren R., Terry, Mary Beth, Torres, Diana, Troester, Melissa A., Vachon, Celine M., van Deurzen, Carolien H. M., van Veen, Elke M., Wagner, Philippe, Weinberg, Clarice R., Wendt, Camilla, Wesseling, Jelle, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Couch, Fergus J., Simard, Jacques, Kraft, Peter, Easton, Douglas F., Pharoah, Paul D. P., Schmidt, Marjanka K., Garcia-Closas, Montserrat, Chatterjee, Nilanjan, Ahearn, Thomas U., Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Lush, Michael, Wang, Qin, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Collee, J. Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dork, Thilo, Dwek, Miriam, Eccles, Diana M., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M., Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., Gonzalez-Neira, Anna, Alnaes, Grethe I. Grenaker, Grip, Mervi, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N., Kruger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W., Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G., Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, McLean, Catriona, Meindl, Alfons, Menon, Usha, Nevanlinna, Heli, Newman, William G., Nodora, Jesse, Offit, Kenneth, Olsson, Hakan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa, V, Peto, Julian, Pita, Guillermo, Plaseska-Karanfilska, Dijana, Prentice, Ross, Punie, Kevin, Pylkas, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, Ruediger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Schoemaker, Minouk J., Schottker, Ben, Sherman, Mark E., Shu, Xiao-Ou, Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teras, Lauren R., Terry, Mary Beth, Torres, Diana, Troester, Melissa A., Vachon, Celine M., van Deurzen, Carolien H. M., van Veen, Elke M., Wagner, Philippe, Weinberg, Clarice R., Wendt, Camilla, Wesseling, Jelle, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Couch, Fergus J., Simard, Jacques, Kraft, Peter, Easton, Douglas F., Pharoah, Paul D. P., Schmidt, Marjanka K., Garcia-Closas, Montserrat, and Chatterjee, Nilanjan

Abstract

Background Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear. Methods Among 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes. Results Eighty-five of 173 variants were associated with at least one tumor feature (false discovery rate < 5%), most commonly ER and grade, followed by PR and HER2. Models for intrinsic-like subtypes found nearly all of these variants (83 of 85) associated at p < 0.05 with risk for at least one luminal-like subtype, and approximately half (41 of 85) of the variants were associated with risk of at least one non-luminal subtype, including 32 variants associated with triple-negative (TN) disease. Ten variants were associated with risk of all subtypes in different magnitude. Five variants were associated with risk of luminal A-like and TN subtypes in opposite directions. Conclusion This report demonstrates a high level of complexity in the etiology heterogeneity of breast cancer susceptibility variants and can inform investigations of subtype-specific risk prediction.

Published
2022
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171. Data Resource Profile : Breast Cancer Data Base Sweden 2.0 (BCBaSe 2.0)

Author

Wadsten, Charlotta, Wennstig, Anna-Karin, Garmo, Hans, Lambe, Mats, Blomqvist, Carl, Holmberg, Lars, Nilsson, Greger, Wärnberg, Fredrik, Fredriksson, Irma, Sund, Malin, Wadsten, Charlotta, Wennstig, Anna-Karin, Garmo, Hans, Lambe, Mats, Blomqvist, Carl, Holmberg, Lars, Nilsson, Greger, Wärnberg, Fredrik, Fredriksson, Irma, and Sund, Malin

Published
2022
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172. PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.

Author

Giardiello, Daniele, Giardiello, Daniele, Hooning, Maartje J, Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, BAM, Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E, Bolla, Manjeet K, Camp, Nicola J, Czene, Kamila, Devilee, Peter, Eccles, Diana M, Fasching, Peter A, Figueroa, Jonine D, Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A, Hamann, Ute, Hopper, John L, Jakubowska, Anna, Leeuwen, Floor E, Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul DP, Siesling, Sabine, Southey, Melissa C, van der Hout, Annemieke H, van Hest, Liselotte P, Chang-Claude, Jenny, Hall, Per, Easton, Douglas F, Steyerberg, Ewout W, Schmidt, Marjanka K, Giardiello, Daniele, Giardiello, Daniele, Hooning, Maartje J, Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, BAM, Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E, Bolla, Manjeet K, Camp, Nicola J, Czene, Kamila, Devilee, Peter, Eccles, Diana M, Fasching, Peter A, Figueroa, Jonine D, Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A, Hamann, Ute, Hopper, John L, Jakubowska, Anna, Leeuwen, Floor E, Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul DP, Siesling, Sabine, Southey, Melissa C, van der Hout, Annemieke H, van Hest, Liselotte P, Chang-Claude, Jenny, Hall, Per, Easton, Douglas F, Steyerberg, Ewout W, and Schmidt, Marjanka K

Abstract

BackgroundPrediction of contralateral breast cancer (CBC) risk is challenging due to moderate performances of the known risk factors. We aimed to improve our previous risk prediction model (PredictCBC) by updated follow-up and including additional risk factors.MethodsWe included data from 207,510 invasive breast cancer patients participating in 23 studies. In total, 8225 CBC events occurred over a median follow-up of 10.2 years. In addition to the previously included risk factors, PredictCBC-2.0 included CHEK2 c.1100delC, a 313 variant polygenic risk score (PRS-313), body mass index (BMI), and parity. Fine and Gray regression was used to fit the model. Calibration and a time-dependent area under the curve (AUC) at 5 and 10 years were assessed to determine the performance of the models. Decision curve analysis was performed to evaluate the net benefit of PredictCBC-2.0 and previous PredictCBC models.ResultsThe discrimination of PredictCBC-2.0 at 10 years was higher than PredictCBC with an AUC of 0.65 (95% prediction intervals (PI) 0.56-0.74) versus 0.63 (95%PI 0.54-0.71). PredictCBC-2.0 was well calibrated with an observed/expected ratio at 10 years of 0.92 (95%PI 0.34-2.54). Decision curve analysis for contralateral preventive mastectomy (CPM) showed the potential clinical utility of PredictCBC-2.0 between thresholds of 4 and 12% 10-year CBC risk for BRCA1/2 mutation carriers and non-carriers.ConclusionsAdditional genetic information beyond BRCA1/2 germline mutations improved CBC risk prediction and might help tailor clinical decision-making toward CPM or alternative preventive strategies. Identifying patients who benefit from CPM, especially in the general breast cancer population, remains challenging.

Published
2022

173. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

Author

Dixon-Suen, Suzanne C., Lewis, Sarah J., Martin, Richard M., English, Dallas R., Boyle, Terry, Giles, Graham G., Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Ahearn, Thomas U., Ambrosone, Christine B., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Auvinen, Paivi, Beane Freeman, Laura E., Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Bruening, Thomas, Buys, Saundra S., Camp, Nicola J., Campa, Daniele, Canzian, Federico, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Clarke, Christine L., Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doerk, Thilo, Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Goldberg, Mark S., Guenel, Pascal, Guendert, Melanie, Hahnen, Eric, Haiman, Christopher A., Haeberle, Lothar, Hakansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N., Harvie, Michelle, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J., Hoppe, Reiner, Hopper, John, Howell, Anthony, Hunter, David J., Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Lacey, James, V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Loibl, Sibylle, Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Menon, Usha, Mulligan, Anna Marie, Murphy, Rachel A., Nevanlinna, Heli, Nevelsteen, Ines, Newman, William G., Offit, Kenneth, Olshan, Andrew F., Olsson, Hakan, Orr, Nick, Patel, Alpa, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Rees-Punia, Erika, Rennert, Gad, Rennert, Hedy S., Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P., Schmidt, Marjanka K., Schmutzler, Rita K., Schwentner, Lukas, Scott, Christopher, Shah, Mitul, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Tollenaar, Rob A. E. M., Troester, Melissa A., Truong, Therese, Untch, Michael, Vachon, Celine M., Joseph, Vijai, Wappenschmidt, Barbara, Weinberg, Clarice R., Wolk, Alicja, Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Easton, Douglas F., Milne, Roger L., Lynch, Brigid M., Dixon-Suen, Suzanne C., Lewis, Sarah J., Martin, Richard M., English, Dallas R., Boyle, Terry, Giles, Graham G., Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Ahearn, Thomas U., Ambrosone, Christine B., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Auvinen, Paivi, Beane Freeman, Laura E., Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Bruening, Thomas, Buys, Saundra S., Camp, Nicola J., Campa, Daniele, Canzian, Federico, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Clarke, Christine L., Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doerk, Thilo, Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Goldberg, Mark S., Guenel, Pascal, Guendert, Melanie, Hahnen, Eric, Haiman, Christopher A., Haeberle, Lothar, Hakansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N., Harvie, Michelle, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J., Hoppe, Reiner, Hopper, John, Howell, Anthony, Hunter, David J., Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Lacey, James, V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Loibl, Sibylle, Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Menon, Usha, Mulligan, Anna Marie, Murphy, Rachel A., Nevanlinna, Heli, Nevelsteen, Ines, Newman, William G., Offit, Kenneth, Olshan, Andrew F., Olsson, Hakan, Orr, Nick, Patel, Alpa, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Rees-Punia, Erika, Rennert, Gad, Rennert, Hedy S., Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P., Schmidt, Marjanka K., Schmutzler, Rita K., Schwentner, Lukas, Scott, Christopher, Shah, Mitul, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Tollenaar, Rob A. E. M., Troester, Melissa A., Truong, Therese, Untch, Michael, Vachon, Celine M., Joseph, Vijai, Wappenschmidt, Barbara, Weinberg, Clarice R., Wolk, Alicja, Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Easton, Douglas F., Milne, Roger L., and Lynch, Brigid M.

Abstract

Objectives Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses causality by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or sedentary time, assessed using genotype, may be causally associated with breast cancer risk overall, pre/post-menopause, and by case-groups defined by tumour characteristics. Methods We performed two-sample inverse-variance-weighted MR using individual-level Breast Cancer Association Consortium case-control data from 130 957 European-ancestry women (69 838 invasive cases), and published UK Biobank data (n=91 105-377 234). Genetic instruments were single nucleotide polymorphisms (SNPs) associated in UK Biobank with wrist-worn accelerometer-measured overall physical activity (n(snps)=5) or sedentary time (n(snps)=6), or accelerometer-measured (n(snps)=1) or self-reported (n(snps)=5) vigorous physical activity. Results Greater genetically-predicted overall activity was associated with lower breast cancer overall risk (OR=0.59; 95% confidence interval (CI) 0.42 to 0.83 per-standard deviation (SD;similar to 8 milligravities acceleration)) and for most case-groups. Genetically-predicted vigorous activity was associated with lower risk of pre/perimenopausal breast cancer (OR=0.62; 95% CI 0.45 to 0.87,>= 3 vs. 0 self-reported days/week), with consistent estimates for most case-groups. Greater genetically-predicted sedentary time was associated with higher hormone-receptor-negative tumour risk (OR=1.77; 95% CI 1.07 to 2.92 per-SD (similar to 7% time spent sedentary)), with elevated estimates for most case-groups. Results were robust to sensitivity analyses examining pleiotropy (including weighted-median-MR, MR-Egger). Conclusion Our study provides strong evidence that greater overall physical activity, greater vigorous activity, and lower sedentary time are likely

Published
2022

174. Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

Author

Mavaddat, Nasim, Dorling, Leila, Carvalho, Sara, Allen, Jamie, Gonzalez-Neira, Anna, Keeman, Renske, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Ahearn, Thomas U., Andrulis, Irene L., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Briceno, Ignacio, Bruning, Thomas, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Christiansen, Hans, Czene, Kamila, Dork, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Geisler, Jurgen, Giles, Graham G., Guenel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Hartikainen, Jaana M., Hartman, Mikael, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza K., Kristensen, Vessela N., Li, Jingmei, Lim, Swee Ho, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubinski, Jan, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Taib, Nur Aishah Mohd, Morra, Anna, Muir, Kenneth, Obi, Nadia, Osorio, Ana, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Thorne, Heather, Tomlinson, Ian, Torres, Diana, Truong, Therese, Yip, Cheng Har, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Dunning, Alison M., Garcia-Closas, Montserrat, Pharoah, Paul D. P., Kvist, Anders, Muranen, Taru A., Nevanlinna, Heli, Teo, Soo Hwang, Devilee, Peter, Schmidt, Marjanka K., Easton, Douglas F., Mavaddat, Nasim, Dorling, Leila, Carvalho, Sara, Allen, Jamie, Gonzalez-Neira, Anna, Keeman, Renske, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Ahearn, Thomas U., Andrulis, Irene L., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Briceno, Ignacio, Bruning, Thomas, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Christiansen, Hans, Czene, Kamila, Dork, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Geisler, Jurgen, Giles, Graham G., Guenel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Hartikainen, Jaana M., Hartman, Mikael, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza K., Kristensen, Vessela N., Li, Jingmei, Lim, Swee Ho, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubinski, Jan, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Taib, Nur Aishah Mohd, Morra, Anna, Muir, Kenneth, Obi, Nadia, Osorio, Ana, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Thorne, Heather, Tomlinson, Ian, Torres, Diana, Truong, Therese, Yip, Cheng Har, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Dunning, Alison M., Garcia-Closas, Montserrat, Pharoah, Paul D. P., Kvist, Anders, Muranen, Taru A., Nevanlinna, Heli, Teo, Soo Hwang, Devilee, Peter, Schmidt, Marjanka K., and Easton, Douglas F.

Abstract

IMPORTANCE Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes are unclear. This information is relevant to guidelines for gene panel testing and risk prediction. OBJECTIVE To characterize tumors associated with BC susceptibility genes in large-scale population- or hospital-based studies. DESIGN, SETTING, AND PARTICIPANTS The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients and 46 387 control participants, comprising women aged 18 to 79 years who were sampled independently of family history from 38 studies. Studies were conducted between 1991and 2016. Sequencing and analysis took place between 2016 and 2021. EXPOSURES Protein-truncating variants and likely pathogenic missense variants in ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53. MAIN OUTCOMES AND MEASURES The intrinsic-like BC subtypes as defined by estrogen receptor, progesterone receptor, and ERBB2 (formerly known as HER2) status, and tumor grade; morphology; size; stage; lymph node involvement; subtype-specific odds ratios (ORs) for carrying protein-truncating variants and pathogenic missense variants in the 9 BC susceptibility genes. RESULTS The mean (SD) ages at interview (control participants) and diagnosis (cases) were 55.1(11.9) and 55.8 (10.6) years, respectively; all participants were of European or East Asian ethnicity. There was substantial heterogeneity in the distribution of intrinsic subtypes by gene. RAD51C, RAD51D, and BARD1 variants were associated mainly with triple-negative disease (OR, 6.19 [95% CI, 3.17-12.12]; OR, 6.19 [95% CI, 2.99-12.79]; and OR, 10.05 [95% CI, 5.27-19.19], respectively). CHEK2 variants were associated with all subtypes (with ORs ranging from 2.21-3.17) except for triple-negative disease. For ATM variants, the association was strongest for the hormone receptor (HR)(+)ERBB2(-) high-grade subtype

Published
2022

175. Physical activity, sedentary time and breast cancer risk:a Mendelian randomisation study

Author

Dixon-Suen, Suzanne C., Lewis, Sarah J., Martin, Richard M., English, Dallas R., Boyle, Terry, Giles, Graham G., Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Ahearn, Thomas U., Ambrosone, Christine B., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Auvinen, Päivi, Freeman, Laura E.Beane, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S., Camp, Nicola J., Campa, Daniele, Canzian, Federico, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Clarke, Christine L., Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Goldberg, Mark S., Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A., Häberle, Lothar, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N., Harvie, Michelle, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Howell, Anthony, Hunter, David J., Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey Y., Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Lacey, James V., Lambrechts, Diether, Marchand, Loic Le, Lindblom, Annika, Loibl, Sibylle, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Menon, Usha, Mulligan, Anna Marie, Murphy, Rachel A., Nevanlinna, Heli, Nevelsteen, Ines, Newman, William G., Offit, Kenneth, Olshan, Andrew F., Olsson, Håkan, Orr, Nick, Patel, Alpa V., Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Rees-Punia, Erika, Rennert, Gad, Rennert, Hedy S., Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P., Schmidt, Marjanka K, Schmutzler, Rita K., Schwentner, Lukas, Scott, Christopher, Shah, Mitul, Shu, Xiao Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Tollenaar, Rob A.E.M., Troester, Melissa A., Truong, Thérèse, Untch, Michael, Vachon, Celine M., Joseph, Vijai, Wappenschmidt, Barbara, Weinberg, Clarice R., Wolk, Alicja, Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D.P., Easton, Douglas F., Milne, Roger L., Lynch, Brigid M., Dixon-Suen, Suzanne C., Lewis, Sarah J., Martin, Richard M., English, Dallas R., Boyle, Terry, Giles, Graham G., Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Ahearn, Thomas U., Ambrosone, Christine B., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Auvinen, Päivi, Freeman, Laura E.Beane, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S., Camp, Nicola J., Campa, Daniele, Canzian, Federico, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Clarke, Christine L., Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Goldberg, Mark S., Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A., Häberle, Lothar, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N., Harvie, Michelle, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Howell, Anthony, Hunter, David J., Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey Y., Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Lacey, James V., Lambrechts, Diether, Marchand, Loic Le, Lindblom, Annika, Loibl, Sibylle, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Menon, Usha, Mulligan, Anna Marie, Murphy, Rachel A., Nevanlinna, Heli, Nevelsteen, Ines, Newman, William G., Offit, Kenneth, Olshan, Andrew F., Olsson, Håkan, Orr, Nick, Patel, Alpa V., Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Rees-Punia, Erika, Rennert, Gad, Rennert, Hedy S., Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P., Schmidt, Marjanka K, Schmutzler, Rita K., Schwentner, Lukas, Scott, Christopher, Shah, Mitul, Shu, Xiao Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Tollenaar, Rob A.E.M., Troester, Melissa A., Truong, Thérèse, Untch, Michael, Vachon, Celine M., Joseph, Vijai, Wappenschmidt, Barbara, Weinberg, Clarice R., Wolk, Alicja, Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D.P., Easton, Douglas F., Milne, Roger L., and Lynch, Brigid M.

Abstract

Objectives Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses causality by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or sedentary time, assessed using genotype, may be causally associated with breast cancer risk overall, pre/post-menopause, and by case-groups defined by tumour characteristics. Methods We performed two-sample inverse-variance-weighted MR using individual-level Breast Cancer Association Consortium case-control data from 130 957 European-ancestry women (69 838 invasive cases), and published UK Biobank data (n=91 105-377 234). Genetic instruments were single nucleotide polymorphisms (SNPs) associated in UK Biobank with wrist-worn accelerometer-measured overall physical activity (n snps =5) or sedentary time (n snps =6), or accelerometer-measured (n snps =1) or self-reported (n snps =5) vigorous physical activity. Results Greater genetically-predicted overall activity was associated with lower breast cancer overall risk (OR=0.59; 95% confidence interval (CI) 0.42 to 0.83 per-standard deviation (SD;∼8 milligravities acceleration)) and for most case-groups. Genetically-predicted vigorous activity was associated with lower risk of pre/perimenopausal breast cancer (OR=0.62; 95% CI 0.45 to 0.87,≥3 vs. 0 self-reported days/week), with consistent estimates for most case-groups. Greater genetically-predicted sedentary time was associated with higher hormone-receptor-negative tumour risk (OR=1.77; 95% CI 1.07 to 2.92 per-SD (∼7% time spent sedentary)), with elevated estimates for most case-groups. Results were robust to sensitivity analyses examining pleiotropy (including weighted-median-MR, MR-Egger). Conclusion Our study provides strong evidence that greater overall physical activity, greater vigorous activity, and lower sedentary time a

Published
2022

176. PredictCBC-2.0:a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients

Author

Giardiello, Daniele, Hooning, Maartje J., Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, B. A.M., Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Camp, Nicola J., Czene, Kamila, Devilee, Peter, Eccles, Diana M., Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A., Hamann, Ute, Hopper, John L., Jakubowska, Anna, Leeuwen, Floor E., Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul D.P., Siesling, Sabine, Southey, Melissa C., van der Hout, Annemieke H., van Hest, Liselotte P., Chang-Claude, Jenny, Hall, Per, Easton, Douglas F., Steyerberg, Ewout W., Schmidt, Marjanka K., Giardiello, Daniele, Hooning, Maartje J., Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, B. A.M., Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Camp, Nicola J., Czene, Kamila, Devilee, Peter, Eccles, Diana M., Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A., Hamann, Ute, Hopper, John L., Jakubowska, Anna, Leeuwen, Floor E., Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul D.P., Siesling, Sabine, Southey, Melissa C., van der Hout, Annemieke H., van Hest, Liselotte P., Chang-Claude, Jenny, Hall, Per, Easton, Douglas F., Steyerberg, Ewout W., and Schmidt, Marjanka K.

Abstract

Background: Prediction of contralateral breast cancer (CBC) risk is challenging due to moderate performances of the known risk factors. We aimed to improve our previous risk prediction model (PredictCBC) by updated follow-up and including additional risk factors. Methods: We included data from 207,510 invasive breast cancer patients participating in 23 studies. In total, 8225 CBC events occurred over a median follow-up of 10.2 years. In addition to the previously included risk factors, PredictCBC-2.0 included CHEK2 c.1100delC, a 313 variant polygenic risk score (PRS-313), body mass index (BMI), and parity. Fine and Gray regression was used to fit the model. Calibration and a time-dependent area under the curve (AUC) at 5 and 10 years were assessed to determine the performance of the models. Decision curve analysis was performed to evaluate the net benefit of PredictCBC-2.0 and previous PredictCBC models. Results: The discrimination of PredictCBC-2.0 at 10 years was higher than PredictCBC with an AUC of 0.65 (95% prediction intervals (PI) 0.56–0.74) versus 0.63 (95%PI 0.54–0.71). PredictCBC-2.0 was well calibrated with an observed/expected ratio at 10 years of 0.92 (95%PI 0.34–2.54). Decision curve analysis for contralateral preventive mastectomy (CPM) showed the potential clinical utility of PredictCBC-2.0 between thresholds of 4 and 12% 10-year CBC risk for BRCA1/2 mutation carriers and non-carriers. Conclusions: Additional genetic information beyond BRCA1/2 germline mutations improved CBC risk prediction and might help tailor clinical decision-making toward CPM or alternative preventive strategies. Identifying patients who benefit from CPM, especially in the general breast cancer population, remains challenging.

Published
2022

179. Additional file 1 of PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients

Author

Giardiello, Daniele, Hooning, Maartje J., Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, B. A. M., Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Camp, Nicola J., Czene, Kamila, Devilee, Peter, Eccles, Diana M., Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A., Hamann, Ute, Hopper, John L., Jakubowska, Anna, Leeuwen, Floor E., Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul D. P., Siesling, Sabine, Southey, Melissa C., van der Hout, Annemieke H., van Hest, Liselotte P., Chang-Claude, Jenny, Hall, Per, Easton, Douglas F., Steyerberg, Ewout W., and Schmidt, Marjanka K.

Abstract

Additional file 1. Supplementary methods also including the following tables and figures Table S2. List of BCAC studies (including ABCS source) with the corresponding country and geographic area. Table S4: Clinical utility of the 5-year contralateral breast cancer risk prediction models (PredictCBC-1A with PredictCBC-2.0A and PredictCBC-1B with PredictCBC-2.0B). Figure S1. Visual assessment of calibration through calibration plots in the internal–external cross-validation at 5 years for the PredictCBC-2.0A model. Figure S2. Visual assessment of calibration through calibration plots in the internal–external cross-validation at 10 years for the PredictCBC-2.0A model. Figure S3. Visual assessment of calibration through calibration plots in the internal–external cross-validation at 5 years for the PredictCBC-2.0B model. Figure S4. Visual assessment of calibration through calibration plots in the internal–external cross-validation at 10 years for the PredictCBC-2.0B model. Figure S5. Density distribution of 5-year predicted contralateral breast cancer using PredictCBC-2.0 models. Figure S6. Decision curve analysis at 5 years for the contralateral breast cancer risk models (PredictCBC and PredictCBC-2.0) including BRCA mutation information.

Published
2022
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180. Additional file 4 of Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Author

Ahearn, Thomas U., Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Lush, Michael, Wang, Qin, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, B��rresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Br��ning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Coll��e, J. Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, D��rk, Thilo, Dwek, Miriam, Eccles, Diana M., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M., Garc��a-S��enz, Jos�� A., Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., Gonz��lez-Neira, Anna, Aln��s, Grethe I. Grenaker, Grip, Mervi, Gu��nel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N., Kr��ger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W., Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G., Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, McLean, Catriona, Meindl, Alfons, Menon, Usha, Nevanlinna, Heli, Newman, William G., Nodora, Jesse, Offit, Kenneth, Olsson, H��kan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V., Peto, Julian, Pita, Guillermo, Plaseska-Karanfilska, Dijana, Prentice, Ross, Punie, Kevin, Pylk��s, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, R��diger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Schoemaker, Minouk J., Sch��ttker, Ben, Sherman, Mark E., Shu, Xiao-Ou, Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teras, Lauren R., Terry, Mary Beth, Torres, Diana, Troester, Melissa A., Vachon, Celine M., van Deurzen, Carolien H. M., van Veen, Elke M., Wagner, Philippe, Weinberg, Clarice R., Wendt, Camilla, Wesseling, Jelle, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Couch, Fergus J., Simard, Jacques, Kraft, Peter, Easton, Douglas F., Pharoah, Paul D. P., Schmidt, Marjanka K., Garc��a-Closas, Montserrat, and Chatterjee, Nilanjan

Subjects
Data_FILES
Abstract

Additional file 4. Funding and Acknowledgement. This file contains the additional funding not included in the main text, the acknowledgments, and the names of the people in the collaboration groups.

Published
2022
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181. 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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188. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Author

Escala-Garcia, Maria, Abraham, Jean, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Ashworth, Alan, Auer, Paul L, Auvinen, Päivi, Beckmann, Matthias W, Beesley, Jonathan, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Blot, William, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y, Burwinkel, Barbara, Caldas, Carlos, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J, Chin, Suet-Feung, Clarke, Christine L, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Dunn, Janet A, Dunning, Alison M, Dwek, Miriam, Earl, Helena M, Eccles, Diana M, Eliassen, A Heather, Ellberg, Carolina, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, George, Angela, Giles, Graham G, Goldgar, David E, González-Neira, Anna, Grip, Mervi, Guénel, Pascal, Guo, Qi, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Harrington, Patricia A, Hiller, Louise, Hooning, Maartje J, Hopper, John L, Howell, Anthony, Huang, Chiun-Sheng, Huang, Guanmengqian, Hunter, David J, Jakubowska, Anna, John, Esther M, Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Kitahara, Cari M, Koppert, Linetta B, Kraft, Peter, Kristensen, Vessela N, Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L, Mulligan, Anna Marie, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Olshan, Andrew F, Olson, Janet E, Olsson, Håkan, Orr, Nick, Peterlongo, Paolo, Petridis, Christos, Prentice, Ross L, Presneau, Nadege, Punie, Kevin, Ramachandran, Dhanya, Rennert, Gad, Romero, Atocha, Sachchithananthan, Mythily, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schwentner, Lukas, Scott, Christopher, Simard, Jacques, Sohn, Christof, Southey, Melissa C, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Teixeira, Manuel R, Terry, Mary Beth, Thorne, Heather, Tollenaar, Rob A E M, Tomlinson, Ian, Troester, Melissa A, Truong, Thérèse, Turnbull, Clare, Vachon, Celine M, van der Kolk, Lizet E, Wang, Qin, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Ziogas, Argyrios, Pharoah, Paul D P, Hall, Per, Wessels, Lodewyk F A, Chenevix-Trench, Georgia, Bader, Gary D, Dörk, Thilo, Easton, Douglas F, Canisius, Sander, Schmidt, Marjanka K, Gonzalez Neira, Anna, Andrulis, Irene L., Auer, Paul L., Beckmann, Matthias W., Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Brucker, Sara Y., Chanock, Stephen J., Clarke, Christine L., Couch, Fergus J., Cross, Simon S., Daly, Mary B., Dunn, Janet A., Dunning, Alison M., Earl, Helena M., Eccles, Diana M., Eliassen, A. Heather, Evans, D. Gareth, Fasching, Peter A., Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Giles, Graham G., Goldgar, David E., Haiman, Christopher A., Harrington, Patricia A., Hooning, Maartje J., Hopper, John L., Hunter, David J., John, Esther M., Kitahara, Cari M., Milne, Roger L., Neuhausen, Susan L., Newman, William G., Olshan, Andrew F., Olson, Janet E., Prentice, Ross L., Sawyer, Elinor J., Schmutzler, Rita K., Southey, Melissa C., Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Tollenaar, Rob A. E. M., Troester, Melissa A., Vachon, Celine M., van der Kolk, Lizet E., Yang, Xiaohong R., Pharoah, Paul D. P., Wessels, Lodewyk F. A., Bader, Gary D., Easton, Douglas F., Schmidt, Marjanka K., HUS Comprehensive Cancer Center, Department of Oncology, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, University of Helsinki, National Institute for Health Research (Reino Unido), German Cancer Research Center, United States of Department of Health & Human Services, Cancer Research UK (Reino Unido), European Commission, Canadian Institutes of Health Research, Ministere de l'Economie, Science et Innovation du Quebec (Canadá), Dutch Cancer Society (Holanda), Instituto de Salud Carlos III, Asociación Española Contra el Cáncer, Deutsche Krebshilfe, Russian Foundation for Basic Research, Swedish Research Council, Breast Cancer Now (Reino Unido), Medical Oncology, Surgery, National Institute for Health Research (NIHR), German Cancer Research Center (DKFZ, United States Department of Health & Human Services National Institutes of Health (NIH) - USA, Cancer Research UK, Canadian Institutes of Health Research (CIHR), Ministere de l'Economie, Science et Innovation du Quebec- CANADA, KWF Kankerbestrijding, Asociacion Espanola Contra el Cancer (AECC), Russian Foundation for Basic Research (RFBR), Breast Cancer Now, London, Unión Europea. Comisión Europea, Andrulis, Irene L. [0000-0002-4226-6435], Arndt, Volker [0000-0001-9320-8684], Bojesen, Stig E. [0000-0002-4061-4133], Brauch, Hiltrud [0000-0001-7531-2736], Caldas, Carlos [0000-0003-3547-1489], Canzian, Federico [0000-0002-4261-4583], Chanock, Stephen J. [0000-0002-2324-3393], Chin, Suet-Feung [0000-0001-5697-1082], Dennis, Joe [0000-0003-4591-1214], Devilee, Peter [0000-0002-8023-2009], Dunning, Alison M. [0000-0001-6651-7166], Dwek, Miriam [0000-0001-7184-2932], Ellberg, Carolina [0000-0001-7297-0645], Fasching, Peter A. [0000-0003-4885-8471], García-Closas, Montserrat [0000-0003-1033-2650], García-Sáenz, José A. [0000-0001-6880-0301], Giles, Graham G. [0000-0003-4946-9099], Guénel, Pascal [0000-0002-8359-518X], Håkansson, Niclas [0000-0001-7673-5554], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Kraft, Peter [0000-0002-4472-8103], Lambrechts, Diether [0000-0002-3429-302X], Milne, Roger L. [0000-0001-5764-7268], Nevanlinna, Heli [0000-0002-0916-2976], Newman, William G. [0000-0002-6382-4678], Olson, Janet E. [0000-0003-4944-7789], Orr, Nick [0000-0003-2866-942X], Peterlongo, Paolo [0000-0001-6951-6855], Punie, Kevin [0000-0002-1162-7963], Ramachandran, Dhanya [0000-0001-8139-7799], Rennert, Gad [0000-0002-8512-068X], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Scott, Christopher [0000-0003-1340-0647], Simard, Jacques [0000-0001-6906-3390], Teixeira, Manuel R. [0000-0002-4896-5982], Tomlinson, Ian [0000-0003-3037-1470], Truong, Thérèse [0000-0002-2943-6786], Winqvist, Robert [0000-0003-0932-9104], Wolk, Alicja [0000-0001-7387-6845], Ziogas, Argyrios [0000-0003-4529-3727], Pharoah, Paul D. P. [0000-0001-8494-732X], Bader, Gary D. [0000-0003-0185-8861], Dörk, Thilo [0000-0002-9458-0282], Easton, Douglas F. [0000-0003-2444-3247], Canisius, Sander [0000-0003-3888-8829], Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Andrulis, Irene L [0000-0002-4226-6435], Blomqvist, Carl [0000-0003-3041-1938], Bojesen, Stig E [0000-0002-4061-4133], Chanock, Stephen J [0000-0002-2324-3393], Dunning, Alison M [0000-0001-6651-7166], Earl, Helena M [0000-0003-1549-8094], Fasching, Peter A [0000-0003-4885-8471], García-Sáenz, José A [0000-0001-6880-0301], Giles, Graham G [0000-0003-4946-9099], Howell, Anthony [0000-0002-6233-719X], Milne, Roger L [0000-0001-5764-7268], Newman, William G [0000-0002-6382-4678], Olson, Janet E [0000-0003-4944-7789], Olsson, Håkan [0000-0002-8794-9635], Teixeira, Manuel R [0000-0002-4896-5982], Pharoah, Paul D P [0000-0001-8494-732X], Bader, Gary D [0000-0003-0185-8861], Easton, Douglas F [0000-0003-2444-3247], Schmidt, Marjanka K [0000-0002-2228-429X], and Pharoah, Paul DP [0000-0001-8494-732X]

Subjects
0301 basic medicine, PTEN, GTP-Binding Protein alpha Subunits, Gq-G11/genetics, 45/43, Gene regulatory network, General Physics and Astronomy, Estrogen receptor, Genome-wide association study, Apoptosis, Disease, CIRCADIAN CLOCK, VARIANTS, Bioinformatics, Genome-wide association studies, Germline, Metastasis, PATHWAY, 0302 clinical medicine, Breast cancer, 3123 Gynaecology and paediatrics, Gene Regulatory Networks, lcsh:Science, Multidisciplinary, TUMOR-GROWTH, Receptors, Estrogen/genetics, Prognosis, GTP-Binding Protein alpha Subunits, 3. Good health, Multidisciplinary Sciences, Receptors, Estrogen, 030220 oncology & carcinogenesis, Medical genetics, Science & Technology - Other Topics, Female, Medical Genetics, Signal Transduction, medicine.medical_specialty, Genotype, Science, 3122 Cancers, 631/208/205/2138, Breast Neoplasms, Biology, Breast Neoplasms/genetics, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, PROTEIN-COUPLED RECEPTORS, SDG 3 - Good Health and Well-being, Circadian Clocks, medicine, Humans, GENOME-WIDE ASSOCIATION, Medicinsk genetik, Science & Technology, 45, Genetic Variation, Computational Biology, General Chemistry, medicine.disease, GENE, Computational biology and bioinformatics, 030104 developmental biology, Germ Cells, GTP-Binding Protein alpha Subunits/genetics, METASTASIS, GTP-Binding Protein alpha Subunits, Gq-G11, 692/4028/67/1347, lcsh:Q, CELL-GROWTH, 631/114, Genome-Wide Association Study
Abstract

Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants in breast cancer prognosis. This network-based analysis studies ~7.3 million variants in 84,457 breast cancer patients in relation to breast cancer survival and confirms the results on 12,381 independent patients. Aggregating the prognostic effects of genetic variants across multiple genes, we identify four gene modules associated with survival in estrogen receptor (ER)-negative and one in ER-positive disease. The modules show biological enrichment for cancer-related processes such as G-alpha signaling, circadian clock, angiogenesis, and Rho-GTPases in apoptosis., In breast cancer the contribution of different genetic variants to disease heritability is complex and not fully understood. Here, the authors present a network-based analysis in 84,567 patients studying ~7.3 million variants, identifying gene modules associated with breast cancer survival.

Published
2020
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189. Visual Counting and Automated Image-analytic Assessment of Ki-67 and their Prognostic Value in Synovial Sarcoma

Author

Laurila, Riikka E, Böhling, Tom O, Blomqvist, Carl P, Karlsson, Christina, Tukiainen, Erkki J, Repo, Jussi, Sampo, Mika M, Tampere University, Clinical Medicine, and Department of Musculoskeletal Diseases

Subjects
3121 Internal medicine, Research Article
Abstract

BACKGROUND: Ki-67 is a widely used proliferation marker reflecting prognosis in various tumors. However, visual assessment and scoring of Ki-67 suffers from marked inter-observer and intra-observer variability. We aimed to assess the concordance of manual counting and automated image-analytic scoring methods for Ki-67 in synovial sarcoma. PATIENTS AND METHODS: Tissue microarrays from 34 patients with synovial sarcoma were immunostained for Ki-67 and scored both visually and with 3DHistech QuantCenter. RESULTS: The automated assessment of Ki-67 expression was in good agreement with the visually counted Ki-67 (r Pearson =0.96, p

Published
2021

191. Long-term health-related quality of life of breast cancer survivors remains impaired compared to the age-matched general population especially in young women. Results from the prospective controlled BREX exercise study

Author

Roine, Eija, primary, Sintonen, Harri, additional, Kellokumpu-Lehtinen, Pirkko-Liisa, additional, Penttinen, Heidi, additional, Utriainen, Meri, additional, Vehmanen, Leena, additional, Huovinen, Riikka, additional, Kautiainen, Hannu, additional, Nikander, Riku, additional, Blomqvist, Carl, additional, Hakamies-Blomqvist, Liisa, additional, and Saarto, Tiina, additional

Published
2021
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194. Anthracycline-containing and taxane-containing chemotherapy for early-stage operable breast cancer: a patient-level meta-analysis of 100 000 women from 86 randomised trials

Author

Braybrooke, Jeremy, Bradley, Rosie, Gray, Richard, Hills, Robert K, Pan, Hongchao, Peto, Richard, Dodwell, David, McGale, Paul, Taylor, Carolyn, Aihara, Tomohiko, Anderson, Stewart, Blum, Joanne, Cardoso, Fatima, Chen, Xiaosong, Crown, John P, Ejlertsen, Bent, Friedl, Thomas W P, Harbeck, Nadia, Janni, Wolfgang, Jensen, Maj-Britt, Mamounas, Eleftherios, Narui, Kazutaka, Nitz, Ulrike, Norton, Larry, O'Shaughnessy, Joyce, Piccart, Martine, Robert, Nicholas, Shao, Zhi-Ming, Slamon, Dennis, Sparano, Joseph, Watanabe, Toru, Yothers, Greg, Yu, Ke-Da, Berry, Richard, Boddington, Clare, Clarke, Mike, Davies, Christina, Davies, Lucy, Duane, Fran, Evans, Vaughan, Gay, Jo, Gettins, Lucy, Godwin, Jon, James, Sam, Lui, Hui, Lui, Zulian, MacKinnon, Elizabeth, Mannu, Gurdeep, McHugh, Theresa, Morris, Philip, Read, Simon, Straiton, Ewan, Buzdar, Aman, Suman, Vera J, Hunt, Kelly K, Leonard, Robert C F, Mansi, Janine, Delbaldo, Catherine, Piedbois, Pascal, Quinaux, Emmanuel, Fesl, Christian, Gnant, Michael, Sölkner, Lidija, Steger, Guenther, Eikesdal, Hans Petter, Lønning, Per Eystein, Bee, Valerie, Fung, Helena, Mackey, John, Martin, Miguel, Press, Michael, De Azambuja, Evandro, Gelber, Richard, Regan, Meredith, Di Leo, Angelo, Van Dooren, Veerle, Nogaret, Jean Marie, Bartlett, John, Chen, Bingshu E, Gelmon, Karen, Goss, Paul E, Levine, Mark N, Parulekar, Wendy, Pritchard, Kathleen I, Shepherd, Lois, Berry, Donald, Cirrincione, Constance, Shulman, Lawrence N, Winer, Eric, Gelman, Rebecca S, Harris, Jay R, Henderson, Craig, Shapiro, Charles L, Christiansen, Peer, Ewertz, Marianne, Mouridsen, Henning T, Van Leeuwen, Elise, Linn, Sabine, Van Rossum, Annelot G J, Van Tinteren, Harm, Van Werkhoven, Erik, Goldstein, Lori, Gray, Robert, Eiermann, Wolfgang, Gianni, Luca, Valagussa, Pinuccia, Bogaerts, Jan, Bonnefoi, Herve, Poncet, Coralie, Huovinen, Riikka, Joensuu, Heikki, Bonneterre, Jacques, Fargeot, Pierre, Fumoleau, Pierre, Kerbrat, Pierre, Luporsi, Elisabeth, Namer, Moïse, Carrasco, Eva M, Segui, Miguel Angel, Meisner, Christoph, Loibl, Sibylle, Nekljudova, Valentina, Thomssen, Christoph, Von Minckwitz, Gunter, Kümmel, Sherko, Lopez, Massimo, Vici, Patrizia, Fountzilas, George, Koliou, Georgia, Mavroudis, Dimitrios, Saloustros, Emmanouil, Brain, Etienne, Delaloge, Suzette, Michiels, Stefan, Mathoulin-Pelissier, Simone, Bines, Jose, Sarmento, Roberta M B, Bonadonna, Gianni, Brambilla, Cristina, Rossi, Anna, Bliss, Judith, Coombes, Raoul Charles, Kilburn, Lucy, Marty, Michel, Amadori, Dino, Boccardo, Francesco, Nanni, Oriana, Rubagotti, Alessandra, Scarpi, Emanuela, Masuda, Norikazu, Toi, Masakazu, Ueno, Takayuki, Ishikawa, Takashi, Matsumoto, Koji, Takao, Shintaro, Sommer, Harald, Foroglou, Pericles, Giokas, George, Kondylis, D, Lissaios, Byron, Reinisch, Mattea, Lee, Keun Seok, Nam, Byung-Ho, Ro, Jung Sil, De Matteis, Andrea, Perrone, Francesco, Tang, Gong, Wolmark, Norman, Hozumi, Yasuo, Nomura, Yasuo, Earl, Helena, Hiller, Louise, Vallier, Anne-Laure, De Mastro, Lucia, Venturini, Macro, Delozier, Thierry, Lemonnier, Jerome, Martin, Anne-Laure, Roché, Henri, Spielmann, Marc, Chen, Xiasong, Shen, Kunwei, Albain, Kathy, Barlow, William, Budd, George T, Gralow, Julie, Hayes, Dan, Bartlett-Lee, Peter, Ellis, Paul, Bianco, Angelo Raffaele, De Laurentiis, Michelino, De Placido, Sabino, Wildiers, Hans, Hsu, Limin, Eremin, Oleg, Walker, Leslie G, Ahlgren, Johan, Blomqvist, Carl, Holmberg, Lars, Lindman, Henrik, Asmar, Lina, Jones, Stephen E, Gluz, Oleg, Liedtke, Cornelia, Arriagada, Rodrigo, Bergsten-Nordström, Elizabeth, Carey, Lisa, Coleman, Robert, Cuzick, Jack, Davidson, Nancy, Dignam, James, Dowsett, Mitch, Francis, Prudence A, Goetz, Matthew P, Goodwin, Pam, Halpin-Murphy, Pat, Hill, Catherine, Jagsi, Reshma, Mukai, Hirofumi, Ohashi, Yasuo, Pierce, Lori, Poortmans, Philip, Raina, Vinod, Rea, Daniel, Robertson, John, Rutgers, Emiel, Salgado, Roberto, Spanic, Tanja, Tutt, Andrew, Viale, Giuseppe, Wang, Xiang, Whelan, Tim, Wilcken, Nicholas, Cameron, David, Bergh, Jonas, and Swain, Sandra M

Abstract

Anthracycline–taxane chemotherapy for early-stage breast cancer substantially improves survival compared with no chemotherapy. However, concerns about short-term and long-term side-effects of anthracyclines have led to increased use of taxane chemotherapy without anthracycline, which could compromise efficacy. We aimed to better characterise the benefits and risks of including anthracycline, and the comparative benefits of different anthracycline–taxane regimens.

Published
2023
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199. High miR-30 Expression Associates with Improved Breast Cancer Patient Survival and Treatment Outcome

Author

Jamshidi, Maral, primary, Fagerholm, Rainer, additional, Muranen, Taru A., additional, Kaur, Sippy, additional, Potdar, Swapnil, additional, Khan, Sofia, additional, Netti, Eliisa, additional, Mpindi, John-Patrick, additional, Yadav, Bhagwan, additional, Kiiski, Johanna I., additional, Aittomäki, Kristiina, additional, Heikkilä, Päivi, additional, Saarela, Jani, additional, Bützow, Ralf, additional, Blomqvist, Carl, additional, and Nevanlinna, Heli, additional

Published
2021
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200. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Author

Coignard, Juliette, Lush, Michael, Beesley, Jonathan, O'Mara, Tracy A, Dennis, Joe, Tyrer, Jonathan P, Barnes, Daniel R, McGuffog, Lesley, Leslie, Goska, Bolla, Manjeet K, Adank, Muriel A, Agata, Simona, Ahearn, Thomas, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Arun, Banu K, Augustinsson, Annelie, Azzollini, Jacopo, Barrowdale, Daniel, Baynes, Caroline, Becher, Heiko, Bermisheva, Marina, Bernstein, Leslie, Białkowska, Katarzyna, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campa, Daniele, Carter, Brian D, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, Collée, J Margriet, Conroy, Don M, Czene, Kamila, Daly, Mary B, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A, Hart, Steven N, He, Wei, Hogervorst, Frans BL, Hollestelle, Antoinette, and Hopper, John L

Subjects
Adult, endocrine system diseases, Genotype, Quantitative Trait Loci, ABCTB Investigators, Breast Neoplasms, Linkage Disequilibrium, GEMO Study Collaborators, Risk Factors, Breast Cancer, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Genetic Testing, Aetiology, Polymorphism, skin and connective tissue diseases, EMBRACE Collaborators, Alleles, HEBON Investigators, Cancer, BRCA2 Protein, BRCA1 Protein, Prevention, Human Genome, Single Nucleotide, Middle Aged, Mutation, Female, KConFab Investigators, Genome-Wide Association Study
Abstract

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P

Published
2021

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