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Common variants in breast cancer risk loci predispose to distinct tumor subtypes

2022; BioMed Central; Volume: 24; Issue: 1 Linguagem: Inglês

10.1186/s13058-021-01484-x

1465-542X

Thomas U. Ahearn, Haoyu Zhang, Kyriaki Michailidou, Roger L. Milne, Manjeet K. Bolla, Joe Dennis, Alison M. Dunning, Michael Lush, Qin Wang, Irene L. Andrulis, Hoda Anton‐Culver, Volker Arndt, Kristan J. Aronson, Paul L. Auer, Annelie Augustinsson, Adinda Baten, Heiko Becher, Sabine Behrens, Javier Benı́tez, Marina Bermisheva, Carl Blomqvist, Stig E. Bojesen, Bernardo Bonanni, Anne‐Lise Børresen‐Dale, Hiltrud Brauch, Hermann Brenner, Angela Brooks‐Wilson, Thomas Brüning, Barbara Burwinkel, Saundra S. Buys, Federico Canzian, Jose E. Castelao, Jenny Chang‐Claude, Stephen J. Chanock, Georgia Chenevix‐Trench, Christine L. Clarke, Kristine Kleivi Sahlberg, Lars Ottestad, Rolf Kåresen, Ellen Schlichting, Marit Muri Holmen, Toril Sauer, Vilde Drageset Haakensen, Olav Engebråten, Bjørn Naume, Alexander Fosså, Cecile E. Kiserud, Kristin V. Reinertsen, Åslaug Helland, Margit Riis, Jürgen Geisler, J. Margriet Collée, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Peter Devilee, Thilo Dörk, Miriam Dwek, Diana Eccles, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Giuseppe Floris, Manuela Gago‐Dominguez, Susan M. Gapstur, José Á. García-Sáenz, Mia M. Gaudet, Graham G. Giles, Mark S. Goldberg, Anna González‐Neira, Grethe I.G. Alnæs, Mervi Grip, Pascal Guénel, Christopher A. Haiman, Per Hall, Ute Hamann, Elaine F. Harkness, Bernadette A. M. Heemskerk‐Gerritsen, Bernd Holleczek, Antoinette Hollestelle, Maartje J. Hooning, Robert N. Hoover, John L. Hopper, Anthony Howell, Christine L. Clarke, Rosemary L. Balleine, Robert C. Baxter, Stephen Braye, Jane Carpenter, Jane E. Dahlstrom, John Forbes, CSoon Lee, Deborah J. Marsh, Adrienne Morey, Nirmala Pathmanathan, Rodney J. Scott, Peter T. Simpson, Allan D. Spigelman, Nicholas Wilcken, Desmond Yip, Nikolajs Zeps, Stephen B. Fox, Ian Campbell, David D.L. Bowtell, Georgia Chenevix‐Trench, Amanda B. Spurdle, Penelope M. Webb, Anna de Fazio, Margaret Tassell, Judy Kirk, Geoffrey J. Lindeman, Melanie A. Price, Melissa C. Southey, Roger L. Milne, Sid Deb, Milena Jakimovska, Anna Jakubowska, Esther M. John, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Saila Kauppila, Renske Keeman, Э. К. Хуснутдинова, Cari M. Kitahara, Yon‐Dschun Ko, Stella Koutros, Vessela N. Kristensen, Ute Krüger, Katerina Kubelka‐Sabit, Allison W. Kurian, Kyriacos Kyriacou, Diether Lambrechts, Derrick G. Lee, Annika Lindblom, Martha S. Linet, Jolanta Lissowska, Ana Llaneza, Wing‐Yee Lo, Robert J. MacInnis, Graham J. Mann, Mehdi Manoochehri, Sara Margolin, Marı́a Elena Martı́nez, Catriona McLean, Alfons Meindl, Usha Menon, Heli Nevanlinna, William G. Newman, Jesse Nodora, Kenneth Offit, Håkan Olsson, Nick Orr, Tjoung‐Won Park‐Simon, Alpa V. Patel, Julian Peto, Guillermo Pita, Dijana Plaseska-Karanfilska, Ross L. Prentice, Kevin Punie, Katri Pylkäs, Paolo Radice, Gad Rennert, Atocha Romero, Thomas Rüdiger, Emmanouil Saloustros, Sarah N. Sampson, Dale P. Sandler, Elinor J. Sawyer, Rita K. Schmutzler, Minouk J. Schoemaker, Ben Schöttker, Mark E. Sherman, Xiao‐Ou Shu, Snezhana Smichkoska, Melissa C. Southey, John J. Spinelli, Anthony J. Swerdlow, Rulla M. Tamimi, William Tapper, Jack A. Taylor, Lauren R. Teras, Mary Beth Terry, Diana Torres, Melissa A. Troester, Celine M. Vachon, Carolien H. M. van Deurzen, Elke M. van Veen, Philippe Wagner, Clarice R. Weinberg, Camilla Wendt, Jelle Wesseling, Robert Winqvist, Alicja Wolk, Xiaohong R. Yang, Wei Zheng, Fergus J. Couch, Jacques Simard, Peter Kraft, Douglas F. Easton, Paul D.P. Pharoah, Marjanka K. Schmidt, Montserrat García‐Closas, Nilanjan Chatterjee,

Breast Cancer Treatment Studies

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.