Author: "Mannermaa, Arto" - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Mannermaa, Arto"' showing total 1,643 results

Start Over Author "Mannermaa, Arto"

1,643 results on '"Mannermaa, Arto"'

151. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Author: Mueller, Stefanie H, Lai, Alvina G, Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Baert, Thais, Freeman, Laura E Beane, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y, Buys, Saundra S, Castelao, Jose E, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Choi, Ji-Yeob, Chung, Wendy K, NBCS Collaborators, Colonna, Sarah V, CTS Consortium, Cornelissen, Sten, Couch, Fergus J, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, García-Closas, Montserrat, García-Sáenz, José A, Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Harkness, Elaine F, Harrington, Patricia A, Hartikainen, Jaana M, Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Hunter, David J, Huo, Dezheng, ABCTB Investigators, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K, Kim, Sung-Won, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Kwong, Ava, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Menon, Usha, Muir, Kenneth, Murphy, Rachel A, Nevanlinna, Heli, Newman, William G, Niederacher, Dieter, O'Brien, Katie M, Obi, Nadia, Offit, Kenneth, Olopade, Olufunmilayo I, Olshan, Andrew F, Olsson, Håkan, Park, Sue K, Patel, Alpa V, Patel, Achal, Perou, Charles M, Peto, Julian, Pharoah, Paul DP, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rashid, Muhammad U, Rennert, Gad, Romero, Atocha, Ruddy, Kathryn J, Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Schneider, Michael O, Scott, Christopher, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Surowy, Harald, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teo, Soo Hwang, Teras, Lauren R, Toland, Amanda E, Tollenaar, Rob AEM, Torres, Diana, Torres-Mejía, Gabriela, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, Vijai, Joseph, Weinberg, Clarice R, Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Yamaji, Taiki, Yang, Xiaohong R, Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M, Easton, Douglas F, Hemingway, Harry, Hamann, Ute, Kuchenbaecker, Karoline B, Kuchenbaecker, Karoline B [0000-0001-9726-603X], and Apollo - University of Cambridge Repository
Subjects: Genome-wide association study, Breast cancer susceptibility, Diverse ancestry, Humans, Black People, Formins, Female, Genetic Predisposition to Disease, Rare variants, Breast Neoplasms, Genetic Testing, Polymorphism, Single Nucleotide, Gene regulation
Abstract: BACKGROUND: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. METHODS: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry. RESULTS: In European ancestry samples, 14 genes were significantly associated (q < 0.05) with BC. Of those, two genes, FMNL3 (P = 6.11 × 10-6) and AC058822.1 (P = 1.47 × 10-4), represent new associations. High FMNL3 expression has previously been linked to poor prognosis in several other cancers. Meta-analysis of samples with diverse ancestry discovered further associations including established candidate genes ESR1 and CBLB. Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C. CONCLUSIONS: Using extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 (P = 1.31 × 10-5), demonstrating the importance of diversifying study cohorts.
Published: 2023
Full Text: View/download PDF

152. FinnGen provides genetic insights from a well-phenotyped isolated population

Author: Kurki, Mitja I, Karjalainen, Juha, Palta, Priit, Sipilä, Timo P, Kristiansson, Kati, Donner, Kati M, Reeve, Mary P, Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A, Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A, Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O, Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G, Sun, Benjamin, Foley, Christopher N, Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A, Ding, Zhihao, Ehm, Margaret G, Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R, Green, Eric M, Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K, Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, FinnGen, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V, Niemi, Mari EK, Niemi, Marianna, Niiranen, Teemu, O Donnell, Christopher J, Obeidat, Ma En, Okafo, George, Ollila, Hanna M, Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S, Pelkonen, Margit, Pendergrass, Rion K, Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A, Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-Yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A, Ulirsch, Jacob C, Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S, Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P, Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J, Palotie, Aarno, Palotie, Aarno [0000-0002-2527-5874], and Apollo - University of Cambridge Repository
Subjects: Estonia, 631/208/205/2138, 692/308/2056, 45/43, article, Middle Aged, United Kingdom, White People, 631/208/457/649/2219, Phenotype, Gene Frequency, Meta-Analysis as Topic, 631/208/727/2000, Humans, Disease, Genetic Predisposition to Disease, Finland, Genome-Wide Association Study
Abstract: Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10-11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of
Published: 2023
Full Text: View/download PDF

153. The impact of coding germline variants on contralateral breast cancer risk and survival

Author: Morra, Anna, Mavaddat, Nasim, Muranen, Taru A, Ahearn, Thomas U, Allen, Jamie, Andrulis, Irene L, Auvinen, Päivi, Becher, Heiko, Behrens, Sabine, Blomqvist, Carl, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Camp, Nicola J, Carvalho, Sara, Castelao, Jose E, Cessna, Melissa H, Chang-Claude, Jenny, Chenevix-Trench, Georgia, NBCS Collaborators, Czene, Kamila, Decker, Brennan, Dennis, Joe, Dörk, Thilo, Dorling, Leila, Dunning, Alison M, Ekici, Arif B, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine D, Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, Geurts-Giele, Willemina RR, Giles, Graham G, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A, He, Wei, Heikkilä, Päivi, Hooning, Maartje J, Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, KConFab Investigators, Jakubowska, Anna, Jung, Audrey Y, Keeman, Renske, Kristensen, Vessela N, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Mulligan, Anna Marie, Newman, William G, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Pharoah, Paul DP, Rhenius, Valerie, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Spurdle, Amanda B, Tomlinson, Ian, Truong, Thérèse, Van Veen, Elke M, Vreeswijk, Maaike PG, Wang, Qin, Wendt, Camilla, Yang, Xiaohong R, Nevanlinna, Heli, Devilee, Peter, Easton, Douglas F, Schmidt, Marjanka K, Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, and Dörk, Thilo [0000-0002-9458-0282]
Subjects: Germ Cells, breast cancer susceptibility genes, Genes, BRCA2, Humans, Female, Breast Neoplasms, Genetic Predisposition to Disease, contralateral breast cancer risk, survival, Germ-Line Mutation, coding germline variants
Abstract: Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association of protein-truncating variants (PTVs) and rare missense variants (MSVs) in nine known (ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53) and 25 suspected BC-susceptibility genes with CBC risk and BCSS. Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated with Cox regression models. Analyses included 34,401 women of European ancestry diagnosed with BC, including 676 CBCs and 3,449 BC deaths; the median follow-up was 10.9 years. Subtype analyses were based on estrogen receptor (ER) status of the first BC. Combined PTVs and pathogenic/likely pathogenic MSVs in BRCA1, BRCA2, and TP53 and PTVs in CHEK2 and PALB2 were associated with increased CBC risk [HRs (95% CIs): 2.88 (1.70-4.87), 2.31 (1.39-3.85), 8.29 (2.53-27.21), 2.25 (1.55-3.27), and 2.67 (1.33-5.35), respectively]. The strongest evidence of association with BCSS was for PTVs and pathogenic/likely pathogenic MSVs in BRCA2 (ER-positive BC) and TP53 and PTVs in CHEK2 [HRs (95% CIs): 1.53 (1.13-2.07), 2.08 (0.95-4.57), and 1.39 (1.13-1.72), respectively, after adjusting for tumor characteristics and treatment]. HRs were essentially unchanged when censoring for CBC, suggesting that these associations are not completely explained by increased CBC risk, tumor characteristics, or treatment. There was limited evidence of associations of PTVs and/or rare MSVs with CBC risk or BCSS for the 25 suspected BC genes. The CBC findings are relevant to treatment decisions, follow-up, and screening after BC diagnosis.
Published: 2023
Full Text: View/download PDF

154. FinnGen provides genetic insights from a well-phenotyped isolated population

Author: FinnGen, Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Hiltunen, Mikko, Aalto-Setälä, Katriina, Bizaki-Vallaskangas, Argyro, Kähönen, Mika, Kosma, Veli Matti, Kurra, Venla, Mäkelä, Johanna, Mannermaa, Arto, Niemi, Mari E.K., Niemi, Marianna, Partanen, Jukka, Salminen, Aino, Schleutker, Johanna, Siltanen, Sanna, Toppila-Salmi, Sanna, Laitinen, Tarja, Tampere University, Clinical Medicine, Department of Gynaecology and Obstetrics, Computing Sciences, BioMediTech, Department of Clinical Physiology and Nuclear Medicine, Tays Research Services, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Genomics of Neurological and Neuropsychiatric Disorders, Complex Disease Genetics, HUS Gynecology and Obstetrics, Department of Medical and Clinical Genetics, Medicum, HUSLAB, Bio Bank, HUS Helsinki and Uusimaa Hospital District, Faculty Common Matters (Faculty of Medicine), Centre of Excellence in Complex Disease Genetics, Research Programs Unit, and Aarno Palotie / Principal Investigator
Subjects: Multidisciplinary, 1184 Genetics, developmental biology, physiology, 3111 Biomedicine, 113 Computer and information sciences
Abstract: Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency 1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P –11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of
Published: 2023

155. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

Author: Morra, Anna, primary, Schreurs, Maartje A. C., additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Augustinsson, Annelie, additional, Beckmann, Matthias W., additional, Behrens, Sabine, additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Brauch, Hiltrud, additional, Broeks, Annegien, additional, Buys, Saundra S., additional, Camp, Nicola J., additional, Castelao, Jose E., additional, Cessna, Melissa H., additional, Chang-Claude, Jenny, additional, Chung, Wendy K., additional, Collaborators, NBCS, additional, Colonna, Sarah V., additional, Couch, Fergus J., additional, Cox, Angela, additional, Cross, Simon S., additional, Czene, Kamila, additional, Daly, Mary B., additional, Dennis, Joe, additional, Devilee, Peter, additional, Dörk, Thilo, additional, Dunning, Alison M., additional, Dwek, Miriam, additional, Easton, Douglas F., additional, Eccles, Diana M., additional, Eriksson, Mikael, additional, Evans, D. Gareth, additional, Fasching, Peter A., additional, Fehm, Tanja N., additional, Figueroa, Jonine D., additional, Flyger, Henrik, additional, Gabrielson, Marike, additional, Gago-Dominguez, Manuela, additional, García-Closas, Montserrat, additional, García-Sáenz, José A., additional, Genkinger, Jeanine, additional, Grassmann, Felix, additional, Gündert, Melanie, additional, Hahnen, Eric, additional, Haiman, Christopher A., additional, Hamann, Ute, additional, Harrington, Patricia A., additional, Hartikainen, Jaana M., additional, Hoppe, Reiner, additional, Hopper, John L., additional, Houlston, Richard S., additional, Howell, Anthony, additional, Investigators, ABCTB, additional, Investigators, kConFab, additional, Jakubowska, Anna, additional, Janni, Wolfgang, additional, Jernström, Helena, additional, John, Esther M., additional, Johnson, Nichola, additional, Jones, Michael E., additional, Kristensen, Vessela N., additional, Kurian, Allison W., additional, Lambrechts, Diether, additional, Marchand, Loic Le, additional, Lindblom, Annika, additional, Lubiński, Jan, additional, Lux, Michael P., additional, Mannermaa, Arto, additional, Mavroudis, Dimitrios, additional, Mulligan, Anna Marie, additional, Muranen, Taru A., additional, Nevanlinna, Heli, additional, Nevelsteen, Ines, additional, Neven, Patrick, additional, Newman, William G., additional, Obi, Nadia, additional, Offit, Kenneth, additional, Olshan, Andrew F., additional, Park-Simon, Tjoung-Won, additional, Patel, Alpa V., additional, Peterlongo, Paolo, additional, Phillips, Kelly-Anne, additional, Plaseska-Karanfilska, Dijana, additional, Polley, Eric C., additional, Presneau, Nadege, additional, Pylkäs, Katri, additional, Rack, Brigitte, additional, Radice, Paolo, additional, Rashid, Muhammad U., additional, Rhenius, Valerie, additional, Robson, Mark, additional, Romero, Atocha, additional, Saloustros, Emmanouil, additional, Sawyer, Elinor J., additional, Schmutzler, Rita K., additional, Schuetze, Sabine, additional, Scott, Christopher, additional, Shah, Mitul, additional, Smichkoska, Snezhana, additional, Southey, Melissa C., additional, Tapper, William J., additional, Teras, Lauren R., additional, Tollenaar, Rob A.E.M., additional, Tomczyk, Katarzyna, additional, Tomlinson, Ian, additional, Troester, Melissa A., additional, Vachon, Celine M., additional, Veen, Elke M. van, additional, Wang, Qin, additional, Wendt, Camilla, additional, Wildiers, Hans, additional, Winqvist, Robert, additional, Ziogas, Argyrios, additional, Hall, Per, additional, Pharoah, Paul D.P., additional, Adank, Muriel A., additional, Hollestelle, Antoinette, additional, Schmidt, Marjanka K., additional, and Hooning, Maartje J., additional
Published: 2023
Full Text: View/download PDF

156. A FinnGen pilot clinical recall study for Alzheimer’s disease

Author: Julkunen, Valtteri, primary, Schwarz, Claudia, additional, Kalapudas, Juho, additional, Hallikainen, Merja, additional, Piironen, Aino-Kaisa, additional, Mannermaa, Arto, additional, Kujala, Hanna, additional, Laitinen, Timo, additional, Kosma, Veli-Matti, additional, Paajanen, Teemu I., additional, Kälviäinen, Reetta, additional, Hiltunen, Mikko, additional, Herukka, Sanna-Kaisa, additional, Kärkkäinen, Sari, additional, Kokkola, Tarja, additional, Urjansson, Mia, additional, Gen, Finn, additional, Perola, Markus, additional, Palotie, Aarno, additional, Vuoksimaa, Eero, additional, and Runz, Heiko, additional
Published: 2023
Full Text: View/download PDF

157. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Author: Figlioli, Gisella, Billaud, Amandine, Ahearn, Thomas U, Antonenkova, Natalia N, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blok, Marinus J, Bogdanova, Natalia V, Bonanni, Bernardo, Burwinkel, Barbara, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Cessna, Melissa H, Chanock, Stephen J, NBCS Collaborators, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine D, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, González-Neira, Anna, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A, He, Wei, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J, Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, KConFab Investigators, Jager, Agnes, Jakubowska, Anna, Khusnutdinova, Elza K, Ko, Yon-Dschun, Kristensen, Vessela N, Lindblom, Annika, Lissowska, Jolanta, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Newman, William G, Obi, Nadia, Panayiotidis, Mihalis I, Rashid, Muhammad U, Rhenius, Valerie, Rookus, Matti A, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Sironen, Reijo, Southey, Melissa C, Suvanto, Maija, Tollenaar, Rob AEM, Tomlinson, Ian, Truong, Thérèse, Van Der Kolk, Lizet E, Van Veen, Elke M, Wappenschmidt, Barbara, Yang, Xiaohong R, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Lush, Michael, Michailidou, Kyriaki, Pharoah, Paul DP, Wang, Qin, Adank, Muriel A, Schmidt, Marjanka K, Andrulis, Irene L, Chang-Claude, Jenny, Nevanlinna, Heli, Chenevix-Trench, Georgia, Evans, D Gareth, Milne, Roger L, Radice, Paolo, Peterlongo, Paolo, Figlioli, Gisella [0000-0002-0740-1363], Becher, Heiko [0000-0002-8808-6667], Behrens, Sabine [0000-0002-9714-104X], Blok, Marinus J [0000-0002-7935-5933], Bonanni, Bernardo [0000-0003-3589-2128], Chanock, Stephen J [0000-0002-2324-3393], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Fasching, Peter A [0000-0003-4885-8471], Grassmann, Felix [0000-0003-1390-7528], Hollestelle, Antoinette [0000-0003-1166-1966], Jakubowska, Anna [0000-0002-5650-0501], Lissowska, Jolanta [0000-0003-2695-5799], Newman, William G [0000-0002-6382-4678], Panayiotidis, Mihalis I [0000-0002-1450-3552], Rashid, Muhammad U [0000-0002-7684-3122], Saloustros, Emmanouil [0000-0002-0485-0120], Yang, Xiaohong R [0000-0003-4451-8664], Dennis, Joe [0000-0003-4591-1214], Easton, Douglas F [0000-0003-2444-3247], Michailidou, Kyriaki [0000-0001-7065-1237], Pharoah, Paul DP [0000-0001-8494-732X], Schmidt, Marjanka K [0000-0002-2228-429X], Andrulis, Irene L [0000-0002-4226-6435], Nevanlinna, Heli [0000-0002-0916-2976], Milne, Roger L [0000-0001-5764-7268], Radice, Paolo [0000-0001-6298-4111], Peterlongo, Paolo [0000-0001-6951-6855], and Apollo - University of Cambridge Repository
Subjects: DNA Helicases, Humans, Female, Breast Neoplasms, Triple Negative Breast Neoplasms, Genetic Predisposition to Disease, KConFab Investigators, NBCS Collaborators
Abstract: Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07-2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08-1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.
Published: 2022
Full Text: View/download PDF

158. A dataset of mammography images with area-based breast density values, breast area, and dense tissue segmentation masks

Author: Behravan, Hamid, Gudhe, Naga Raju, Okuma, Hidemi, Sudah, Mazen, and Mannermaa, Arto
Published: 2024
Full Text: View/download PDF

159. Shared heritability and functional enrichment across six solid cancers

Author: Jiang, Xia, Finucane, Hilary K., Schumacher, Fredrick R., Schmit, Stephanie L., Tyrer, Jonathan P., Han, Younghun, Michailidou, Kyriaki, Lesseur, Corina, Kuchenbaecker, Karoline B., Dennis, Joe, Conti, David V., Casey, Graham, Gaudet, Mia M., Huyghe, Jeroen R., Albanes, Demetrius, Aldrich, Melinda C., Andrew, Angeline S., Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Antonenkova, Natalia N., Arnold, Susanne M., Aronson, Kristan J., Arun, Banu K., Bandera, Elisa V., Barkardottir, Rosa B., Barnes, Daniel R., Batra, Jyotsna, Beckmann, Matthias W., Benitez, Javier, Benlloch, Sara, Berchuck, Andrew, Berndt, Sonja I., Bickeböller, Heike, Bien, Stephanie A., Blomqvist, Carl, Boccia, Stefania, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Brenner, Hermann, Brenton, James D., Brook, Mark N., Brunet, Joan, Brunnström, Hans, Buchanan, Daniel D., Burwinkel, Barbara, Butzow, Ralf, Cadoni, Gabriella, Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Campbell, Peter T., Cancel-Tassin, Géraldine, Cannon-Albright, Lisa, Campa, Daniele, Caporaso, Neil, Carvalho, André L., Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chen, Chu, Christiani, David C., Claes, Kathleen B. M., Claessens, Frank, Clements, Judith, Collée, J. Margriet, Correa, Marcia Cruz, Couch, Fergus J., Cox, Angela, Cunningham, Julie M., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., deFazio, Anna, Devilee, Peter, Diez, Orland, Gago-Dominguez, Manuela, Donovan, Jenny L., Dörk, Thilo, Duell, Eric J., Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Edlund, Christopher K., Edwards, Digna R Velez, Ellberg, Carolina, Evans, D. Gareth, Fasching, Peter A., Ferris, Robert L., Liloglou, Triantafillos, Figueiredo, Jane C., Fletcher, Olivia, Fortner, Renée T., Fostira, Florentia, Franceschi, Silvia, Friedman, Eitan, Gallinger, Steven J., Ganz, Patricia A., Garber, Judy, García-Sáenz, José A., Gayther, Simon A., Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Goode, Ellen L., Goodman, Marc T., Goodman, Gary, Grankvist, Kjell, Greene, Mark H., Gronberg, Henrik, Gronwald, Jacek, Guénel, Pascal, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hamdy, Freddie C., Hamilton, Robert J., Hampe, Jochen, Haugen, Aage, Heitz, Florian, Herrero, Rolando, Hillemanns, Peter, Hoffmeister, Michael, Høgdall, Estrid, Hong, Yun-Chul, Hopper, John L., Houlston, Richard, Hulick, Peter J., Hunter, David J., Huntsman, David G., Idos, Gregory, Imyanitov, Evgeny N., Ingles, Sue Ann, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Jenkins, Mark A., Johansson, Mattias, Johansson, Mikael, John, Esther M., Joshi, Amit D., Kaneva, Radka, Karlan, Beth Y., Kelemen, Linda E., Kühl, Tabea, Khaw, Kay-Tee, Khusnutdinova, Elza, Kibel, Adam S., Kiemeney, Lambertus A., Kim, Jeri, Kjaer, Susanne K., Knight, Julia A., Kogevinas, Manolis, Kote-Jarai, Zsofia, Koutros, Stella, Kristensen, Vessela N., Kupryjanczyk, Jolanta, Lacko, Martin, Lam, Stephan, Lambrechts, Diether, Landi, Maria Teresa, Lazarus, Philip, Le, Nhu D., Lee, Eunjung, Lejbkowicz, Flavio, Lenz, Heinz-Josef, Leslie, Goska, Lessel, Davor, Lester, Jenny, Levine, Douglas A., Li, Li, Li, Christopher I., Lindblom, Annika, Lindor, Noralane M., Liu, Geoffrey, Loupakis, Fotios, Lubiński, Jan, Maehle, Lovise, Maier, Christiane, Mannermaa, Arto, Marchand, Loic Le, Margolin, Sara, May, Taymaa, McGuffog, Lesley, Meindl, Alfons, Middha, Pooja, Miller, Austin, Milne, Roger L., MacInnis, Robert J., Modugno, Francesmary, Montagna, Marco, Moreno, Victor, Moysich, Kirsten B., Mucci, Lorelei, Muir, Kenneth, Mulligan, Anna Marie, Nathanson, Katherine L., Neal, David E., Ness, Andrew R., Neuhausen, Susan L., Nevanlinna, Heli, Newcomb, Polly A., Newcomb, Lisa F., Nielsen, Finn Cilius, Nikitina-Zake, Liene, Nordestgaard, Børge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olama, Ali Amin Al, Olopade, Olufunmilayo I., Olshan, Andrew F., Olsson, Håkan, Osorio, Ana, Pandha, Hardev, Park, Jong Y., Pashayan, Nora, Parsons, Michael T., Pejovic, Tanja, Penney, Kathryn L., Peters, Wilbert H M., Phelan, Catherine M., Phipps, Amanda I., Plaseska-Karanfilska, Dijana, Pring, Miranda, Prokofyeva, Darya, Radice, Paolo, Stefansson, Kari, Ramus, Susan J., Raskin, Leon, Rennert, Gad, Rennert, Hedy S., van Rensburg, Elizabeth J., Riggan, Marjorie J., Risch, Harvey A., Risch, Angela, Roobol, Monique J., Rosenstein, Barry S., Rossing, Mary Anne, De Ruyck, Kim, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schabath, Matthew B., Schleutker, Johanna, Schmidt, Marjanka K., Setiawan, V. Wendy, Shen, Hongbing, Siegel, Erin M., Sieh, Weiva, Singer, Christian F., Slattery, Martha L., Sorensen, Karina Dalsgaard, Southey, Melissa C., Spurdle, Amanda B., Stanford, Janet L., Stevens, Victoria L., Stintzing, Sebastian, Stone, Jennifer, Sundfeldt, Karin, Sutphen, Rebecca, Swerdlow, Anthony J., Tajara, Eloiza H., Tangen, Catherine M., Tardon, Adonina, Taylor, Jack A., Teare, M. Dawn, Teixeira, Manuel R., Terry, Mary Beth, Terry, Kathryn L., Thibodeau, Stephen N., Thomassen, Mads, Bjørge, Line, Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Townsend, Paul A., Travis, Ruth C., Tung, Nadine, Tworoger, Shelley S., Ulrich, Cornelia M., Usmani, Nawaid, Vachon, Celine M., Van Nieuwenhuysen, Els, Vega, Ana, Aguado-Barrera, Miguel Elías, Wang, Qin, Webb, Penelope M., Weinberg, Clarice R., Weinstein, Stephanie, Weissler, Mark C., Weitzel, Jeffrey N., West, Catharine M. L., White, Emily, Whittemore, Alice S., Wichmann, H-Erich, Wiklund, Fredrik, Winqvist, Robert, Wolk, Alicja, Woll, Penella, Woods, Michael, Wu, Anna H., Wu, Xifeng, Yannoukakos, Drakoulis, Zheng, Wei, Zienolddiny, Shanbeh, Ziogas, Argyrios, Zorn, Kristin K., Lane, Jacqueline M., Saxena, Richa, Thomas, Duncan, Hung, Rayjean J., Diergaarde, Brenda, McKay, James, Peters, Ulrike, Hsu, Li, García-Closas, Montserrat, Eeles, Rosalind A., Chenevix-Trench, Georgia, Brennan, Paul J., Haiman, Christopher A., Simard, Jacques, Easton, Douglas F., Gruber, Stephen B., Pharoah, Paul D. P., Price, Alkes L., Pasaniuc, Bogdan, Amos, Christopher I., Kraft, Peter, and Lindström, Sara
Published: 2019
Full Text: View/download PDF

160. Machine learning identifies interacting genetic variants contributing to breast cancer risk: A case study in Finnish cases and controls

Author: Behravan, Hamid, Hartikainen, Jaana M., Tengström, Maria, Pylkäs, Katri, Winqvist, Robert, Kosma, Veli–Matti, and Mannermaa, Arto
Published: 2018
Full Text: View/download PDF

161. 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
Full Text: View/download PDF

162. 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
Full Text: View/download PDF

163. PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

Author: Muranen, Taru, primary, Morra, Anna, additional, Khan, Sofia, additional, Barnes, Daniel, additional, Bolla, Manjeet, additional, Dennis, Joe, additional, Keeman, Renske, additional, Leslie, Goska, additional, Parsons, Michael, additional, Wang, Qin, additional, Ahearn, Thomas, additional, Aittomäki, Kristiina, additional, Andrulis, Irene, additional, Arun, Banu, additional, Behrens, Sabine, additional, Białkowska, Katarzyna, additional, Bojesen, Stig, additional, Camp, Nicola, additional, Chang-Claude, Jenny, additional, Czene, Kamila, additional, Devilee, Peter, additional, Domchek, Susan, additional, Dunning, Alison, additional, Engel, Christoph, additional, Evans, Gareth, additional, Gago-Dominguez, Manuela, additional, Garcia-Closas, Montserrat, additional, Gerdes, Anne-Marie, additional, Glendon, Gord, additional, Guénel, Pascal, additional, Hahnen, Eric, additional, Hamann, Prof U., additional, Hanson, Helen, additional, Hooning, Maartje, additional, Hoppe, Reiner, additional, Izatt, Louise, additional, Jakubowska, Anna, additional, James, Paul, additional, Kristensen, Vessela, additional, Lalloo, Fiona, additional, Lindeman, Geoffrey, additional, Mannermaa, Arto, additional, Margolin, Sara, additional, Neuhausen, Susan, additional, Newman, William, additional, Peterlongo, Paolo, additional, Phillips, Kelly-Anne, additional, Pujana, Miquel Angel, additional, Rantala, Johann, additional, Rønlund, Karina, additional, Saloustros, Emmanouil, additional, Schmutzler, Rita, additional, schneeweiss, andreas, additional, Singer, Christian, additional, Suvanto, Maija, additional, Tan, Yen Yen, additional, Teixeira, Manuel, additional, Thomassen, Mads, additional, Tischkowitz, Marc, additional, Tripathi, Vishakha, additional, Wappenschmidt, Barbara, additional, Zhao, Emily, additional, Easton, Douglas, additional, Antoniou, Antonis, additional, Chenevix-Trench, Georgia, additional, Pharoah, Paul, additional, Schmidt, Marjanka, additional, Blomqvist, Carl, additional, and Nevanlinna, Heli, additional
Published: 2022
Full Text: View/download PDF

164. Proto-oncogene PIM-1 is a novel estrogen receptor target associating with high grade breast tumors

Author: Malinen, Marjo, Jääskeläinen, Tiina, Pelkonen, Mikko, Heikkinen, Sami, Väisänen, Sami, Kosma, Veli-Matti, Nieminen, Kaisa, Mannermaa, Arto, and Palvimo, Jorma J.
Published: 2013
Full Text: View/download PDF

165. 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
Full Text: View/download PDF

166. Gene–environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

Author: Barrdahl, Myrto, Rudolph, Anja, Hopper, John L., Southey, Melissa C., Broeks, Annegien, Fasching, Peter A., Beckmann, Matthias W., Gago‐Dominguez, Manuela, Castelao, J. Esteban, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E., Gapstur, Susan M., Gaudet, Mia M., Brenner, Hermann, Arndt, Volker, Brauch, Hiltrud, Hamann, Ute, Mannermaa, Arto, Lambrechts, Diether, Jongen, Lynn, Flesch‐Janys, Dieter, Thoene, Kathrin, Couch, Fergus J., Giles, Graham G., Simard, Jacques, Goldberg, Mark S., Figueroa, Jonine, Michailidou, Kyriaki, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Eilber, Ursula, Behrens, Sabine, Czene, Kamila, Hall, Per, Cox, Angela, Cross, Simon, Swerdlow, Anthony, Schoemaker, Minouk J., Dunning, Alison M., Kaaks, Rudolf, Pharoah, Paul D.P., Schmidt, Marjanka, Garcia‐Closas, Montserrat, Easton, Douglas F., Milne, Roger L., and Chang‐Claude, Jenny
Published: 2017
Full Text: View/download PDF

167. Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

Author: Lei, Jieping, Rudolph, Anja, Moysich, Kirsten B., Behrens, Sabine, Goode, Ellen L., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Easton, Douglas F., Wang, Qin, Benitez, Javier, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Fasching, Peter A., Haeberle, Lothar, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marmé, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E., Flyger, Henrik, Nielsen, Sune F., Nordestgaard, Børge G., González-Neira, Anna, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Nevanlinna, Heli, Fagerholm, Rainer, Dörk, Thilo, Bogdanova, Natalia V., Mannermaa, Arto, Hartikainen, Jaana M., Van Dijck, Laurien, Smeets, Ann, Flesch-Janys, Dieter, Eilber, Ursula, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J., Hallberg, Emily, Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Schumacher, Fredrick, Simard, Jacques, Goldberg, Mark S., Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Beeghly-Fadiel, Alicia, Winqvist, Robert, Grip, Mervi, Andrulis, Irene L., Glendon, Gord, García-Closas, Montserrat, Figueroa, Jonine, Czene, Kamila, Brand, Judith S., Darabi, Hatef, Eriksson, Mikael, Hall, Per, Li, Jingmei, Cox, Angela, Cross, Simon S., Pharoah, Paul D. P., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Ademuyiwa, Foluso, Ambrosone, Christine B., Swerdlow, Anthony, Jones, Michael, Chang-Claude, Jenny, Australian Ovarian Study Group, and kConFab Investigators
Published: 2016
Full Text: View/download PDF

168. A FinnGen pilot clinical recall study for Alzheimer's disease.

Author: Julkunen, Valtteri, Schwarz, Claudia, Kalapudas, Juho, Hallikainen, Merja, Piironen, Aino-Kaisa, Mannermaa, Arto, Kujala, Hanna, Laitinen, Timo, Kosma, Veli-Matti, Paajanen, Teemu I., Kälviäinen, Reetta, Hiltunen, Mikko, Herukka, Sanna-Kaisa, Kärkkäinen, Sari, Kokkola, Tarja, Urjansson, Mia, FinnGen, Soininen, Hilkka, Heikkinen, Sami, and Mäkelä, Tomi P.
Subjects: ALZHEIMER'S disease, GLIAL fibrillary acidic protein, TAU proteins, TRAUMA registries, COGNITIVE ability, COGNITION
Abstract: Successful development of novel therapies requires that clinical trials are conducted in patient cohorts with the highest benefit-to-risk ratio. Population-based biobanks with comprehensive health and genetic data from large numbers of individuals hold promise to facilitate identification of trial participants, particularly when interventions need to start while symptoms are still mild, such as for Alzheimer's disease (AD). This study describes a process for clinical recall studies from FinnGen. We demonstrate the feasibility to systematically ascertain customized clinical data from FinnGen participants with ICD10 diagnosis of AD or mild cognitive disorder (MCD) in a single-center cross-sectional study testing blood-based biomarkers and cognitive functioning in-person, computer-based and remote. As a result, 19% (27/140) of a pre-specified FinnGen subcohort were successfully recalled and completed the study. Hospital records largely validated registry entries. For 8/12 MCD patients, other reasons than AD were identified as underlying diagnosis. Cognitive measures correlated across platforms, with highest consistencies for dementia screening (r = 0.818) and semantic fluency (r = 0.764), respectively, for in-person versus telephone-administered tests. Glial fibrillary acidic protein (GFAP) (p < 0.002) and phosphorylated-tau 181 (pTau-181) (p < 0.020) most reliably differentiated AD from MCD participants. We conclude that informative, customized clinical recall studies from FinnGen are feasible. [ABSTRACT FROM AUTHOR]
Published: 2023
Full Text: View/download PDF

169. Area-based breast percentage density estimation in mammograms using weight-adaptive multitask learning

Author: Gudhe, Naga Raju, primary, Behravan, Hamid, additional, Sudah, Mazen, additional, Okuma, Hidemi, additional, Vanninen, Ritva, additional, Kosma, Veli-Matti, additional, and Mannermaa, Arto, additional
Published: 2022
Full Text: View/download PDF

170. 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
Full Text: View/download PDF

171. 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
Full Text: View/download PDF

172. 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

173. Rare germline copy number variants (CNVs) and breast cancer risk.

Author: Dennis, Joe, Dennis, Joe, Tyrer, Jonathan P, Walker, Logan C, Michailidou, Kyriaki, Dorling, Leila, Bolla, Manjeet K, Wang, Qin, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Freeman, Laura E Beane, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Castelao, Jose E, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Collée, J Margriet, CTS Consortium, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Howell, Anthony, ABCTB Investigators, kConFab/AOCS Investigators, Jager, Agnes, Jakubowska, Anna, John, Esther M, Johnson, Nichola, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Larson, Nicole L, Linet, Martha, Ogrodniczak, Alicja, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Muranen, Taru A, Murphy, Rachel A, Nevanlinna, Heli, Olson, Janet E, Olsson, Håkan, Park-Simon, Tjoung-Won, Perou, Charles M, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schmidt, Marjanka K, Dennis, Joe, Dennis, Joe, Tyrer, Jonathan P, Walker, Logan C, Michailidou, Kyriaki, Dorling, Leila, Bolla, Manjeet K, Wang, Qin, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Freeman, Laura E Beane, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Castelao, Jose E, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Collée, J Margriet, CTS Consortium, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Howell, Anthony, ABCTB Investigators, kConFab/AOCS Investigators, Jager, Agnes, Jakubowska, Anna, John, Esther M, Johnson, Nichola, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Larson, Nicole L, Linet, Martha, Ogrodniczak, Alicja, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Muranen, Taru A, Murphy, Rachel A, Nevanlinna, Heli, Olson, Janet E, Olsson, Håkan, Park-Simon, Tjoung-Won, Perou, Charles M, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, and Schmidt, Marjanka K
Abstract: Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E-18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance.
Published: 2022

174. 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
Full Text: View/download PDF

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, 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 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, 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 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 (nsnps=5) or sedentary time (nsnps=6), or accelerometer-measured (nsnps=1) or self-reported (nsnps=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 are likely to reduce breast cancer r
Published: 2022
Full Text: View/download PDF

176. Distinct reproductive risk profiles for intrinsic-like breast cancer subtypes : pooled analysis of population-based studies

Author: Jung, Audrey Y, Ahearn, Thomas U, Behrens, Sabine, Middha, Pooja, Bolla, Manjeet K, Wang, Qin, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Brenner, Hermann, Canzian, Federico, Carey, Lisa A, Czene, Kamila, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Figueroa, Jonine D, Fritschi, Lin, Gabrielson, Marike, Giles, Graham G, Guénel, Pascal, Hadjisavvas, Andreas, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Hunter, David J, Hüsing, Anika, Kaaks, Rudolf, Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Lacey, James V, Le Marchand, Loic, Lissowska, Jolanta, Loizidou, Maria A, Mannermaa, Arto, Maurer, Tabea, Murphy, Rachel A, Olshan, Andrew F, Olsson, Håkan, Patel, Alpa V, Perou, Charles M, Rennert, Gad, Shibli, Rana, Shu, Xiao-Ou, Southey, Melissa C, Stone, Jennifer, Tamimi, Rulla M, Teras, Lauren R, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, Wang, Sophia S, Wolk, Alicja, Wu, Anna H, Yang, Xiaohong R, Zheng, Wei, Dunning, Alison M, Pharoah, Paul D P, Easton, Douglas F, Milne, Roger L, Chatterjee, Nilanjan, Schmidt, Marjanka K, García-Closas, Montserrat, Chang-Claude, Jenny, Jung, Audrey Y, Ahearn, Thomas U, Behrens, Sabine, Middha, Pooja, Bolla, Manjeet K, Wang, Qin, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Brenner, Hermann, Canzian, Federico, Carey, Lisa A, Czene, Kamila, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Figueroa, Jonine D, Fritschi, Lin, Gabrielson, Marike, Giles, Graham G, Guénel, Pascal, Hadjisavvas, Andreas, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Hunter, David J, Hüsing, Anika, Kaaks, Rudolf, Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Lacey, James V, Le Marchand, Loic, Lissowska, Jolanta, Loizidou, Maria A, Mannermaa, Arto, Maurer, Tabea, Murphy, Rachel A, Olshan, Andrew F, Olsson, Håkan, Patel, Alpa V, Perou, Charles M, Rennert, Gad, Shibli, Rana, Shu, Xiao-Ou, Southey, Melissa C, Stone, Jennifer, Tamimi, Rulla M, Teras, Lauren R, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, Wang, Sophia S, Wolk, Alicja, Wu, Anna H, Yang, Xiaohong R, Zheng, Wei, Dunning, Alison M, Pharoah, Paul D P, Easton, Douglas F, Milne, Roger L, Chatterjee, Nilanjan, Schmidt, Marjanka K, García-Closas, Montserrat, and Chang-Claude, Jenny
Abstract: BACKGROUND: Reproductive factors have been shown to be differentially associated with risk of estrogen receptor (ER) positive and ER-negative breast cancer. However, their associations with intrinsic-like subtypes are less clear. METHODS: Analyses included up to 23,353 cases, and 71,072 controls pooled from 31 population-based case-control or cohort studies in the Breast Cancer Association Consortium across 16 countries on 4 continents. Polytomous logistic regression was used to estimate the association between reproductive factors and risk of breast cancer by intrinsic-like subtypes (luminal A-like, luminal B-like, luminal B-HER2-like, HER2-enriched-like, and triple-negative) and by invasiveness. All statistical tests were 2-sided. RESULTS: Compared to nulliparous women, parous women had a lower risk of luminal A-like, luminal B-like, luminal B-HER2-like and HER2-enriched-like disease. This association was apparent only after approximately 10 years since last birth and became stronger with increasing time (odds ratio [OR] = 0.59, 95% confidence interval [CI] = 0.49 to 0.71; and OR = 0.36, 95% CI = 0.28 to 0.46; for multiparous women with luminal A-like tumors 20-<25 years after last birth and 45-<50 years after last birth, respectively). In contrast, parous women had a higher risk of triple-negative breast cancer right after their last birth (for multiparous women: OR = 3.12, 95%CI = 2.02 to 4.83) that was attenuated with time but persisted for decades (OR = 1.03, 95%CI = 0.79 to 1.34, for multiparous women 25 to < 30 years after last birth). Older age at first birth (P-heterogeneity<.001 for triple-negative compared to luminal-A like) and breastfeeding (P-heterogeneity<.001 for triple-negative compared to luminal-A like) were associated with lower risk of triple-negative but not with other disease subtypes. Younger age at menarche was associated with higher risk of all subtypes; older age at menopause was associated with higher risk of luminal A-lik
Published: 2022
Full Text: View/download PDF

177. 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

178. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Author: Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T., Fortuno, Cristina, Gonzalez-Neira, Anna, Heijl, Stephan M., Adank, Muriel A., Ahearn, Thomas U., Andrulis, Irene L., Auvinen, Paivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bremer, Michael, Briceno, Ignacio, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collee, J. Margriet, Czene, Kamila, Dennis, Joe, Dork, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guenel, Pascal, Gundert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N., Lakeman, Inge M. M., Li, Jingmei, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G., Oosterwijk, Jan C., Park, Sue K., Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Therese, van Asperen, Christi J., Waltes, Regina, Wang, Qin, Yang, Xiaohong R., Pharoah, Paul D. P., Schmidt, Marjanka K., Benitez, Javier, Vroling, Bas, Dunning, Alison M., Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Easton, Douglas F., Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T., Fortuno, Cristina, Gonzalez-Neira, Anna, Heijl, Stephan M., Adank, Muriel A., Ahearn, Thomas U., Andrulis, Irene L., Auvinen, Paivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bremer, Michael, Briceno, Ignacio, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collee, J. Margriet, Czene, Kamila, Dennis, Joe, Dork, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guenel, Pascal, Gundert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N., Lakeman, Inge M. M., Li, Jingmei, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G., Oosterwijk, Jan C., Park, Sue K., Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Therese, van Asperen, Christi J., Waltes, Regina, Wang, Qin, Yang, Xiaohong R., Pharoah, Paul D. P., Schmidt, Marjanka K., Benitez, Javier, Vroling, Bas, Dunning, Alison M., Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B., Vreeswijk, Maaike P. G., and Easton, Douglas F.
Abstract: Background Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consortium BRIDGES project. We sampled training (80%) and validation (20%) sets to analyze rare missense variants in ATM (1146 training variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), and PALB2 (472). We evaluated breast cancer risks according to five in silico prediction-of-deleteriousness algorithms, functional protein domain, and frequency, using logistic regression models and also mixture models in which a subset of variants was assumed to be risk-associated. Results The most predictive in silico algorithms were Helix (BRCA1, BRCA2 and CHEK2) and CADD (ATM). Increased risks appeared restricted to functional protein domains for ATM (FAT and PIK domains) and BRCA1 (RING and BRCT domains). For ATM, BRCA1, and BRCA2, data were compatible with small subsets (approximately 7%, 2%, and 0.6%, respectively) of rare missense variants giving similar risk to those of protein truncating variants in the same gene. For CHEK2, data were more consistent with a large fraction (approximately 60%) of rare missense variants giving a lower risk (OR 1.75, 95% CI (1.47-2.08)) than CHEK2 protein truncating variants. There was little evidence for an association with risk for missense variants in PALB2. The best fitting models were well calibrated in the validation set. Conclusions These results will inform risk prediction models and the selection of candidate variants for functional assays and could contribute to the clinical reporting of gene panel testing for breast cancer susceptibility.
Published: 2022

179. 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

180. 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

181. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

Author: Milne, Roger L, Gaudet, Mia M, Spurdle, Amanda B, Fasching, Peter A, Couch, Fergus J, Benítez, Javier, Arias Pérez, José Ignacio, Zamora, M Pilar, Malats, Núria, dos Santos Silva, Isabel, Gibson, Lorna J, Fletcher, Olivia, Johnson, Nichola, Anton-Culver, Hoda, Ziogas, Argyrios, Figueroa, Jonine, Brinton, Louise, Sherman, Mark E, Lissowska, Jolanta, Hopper, John L, Dite, Gillian S, Apicella, Carmel, Southey, Melissa C, Sigurdson, Alice J, Linet, Martha S, Schonfeld, Sara J, Freedman, D Michal, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Auvinen, Päivi, Andrulis, Irene L, Glendon, Gord, Knight, Julia A, Weerasooriya, Nayana, Cox, Angela, Reed, Malcolm WR, Cross, Simon S, Dunning, Alison M, Ahmed, Shahana, Shah, Mitul, Brauch, Hiltrud, Ko, Yon-Dschun, Brüning, Thomas, Lambrechts, Diether, Reumers, Joke, Smeets, Ann, Wang-Gohrke, Shan, Hall, Per, Czene, Kamila, Liu, Jianjun, Irwanto, Astrid K, Chenevix-Trench, Georgia, Holland, Helene, Giles, Graham G, Baglietto, Laura, Severi, Gianluca, Bojensen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, John, Esther M, West, Dee W, Whittemore, Alice S, Vachon, Celine, Olson, Janet E, Fredericksen, Zachary, Kosel, Matthew, Hein, Rebecca, Vrieling, Alina, Flesch-Janys, Dieter, Heinz, Judith, Beckmann, Matthias W, Heusinger, Katharina, Ekici, Arif B, Haeberle, Lothar, Humphreys, Manjeet K, Morrison, Jonathan, Easton, Doug F, Pharoah, Paul D, García-Closas, Montserrat, Goode, Ellen L, Chang-Claude, Jenny, Milne, Roger L, Gaudet, Mia M, Spurdle, Amanda B, Fasching, Peter A, Couch, Fergus J, Benítez, Javier, Arias Pérez, José Ignacio, Zamora, M Pilar, Malats, Núria, dos Santos Silva, Isabel, Gibson, Lorna J, Fletcher, Olivia, Johnson, Nichola, Anton-Culver, Hoda, Ziogas, Argyrios, Figueroa, Jonine, Brinton, Louise, Sherman, Mark E, Lissowska, Jolanta, Hopper, John L, Dite, Gillian S, Apicella, Carmel, Southey, Melissa C, Sigurdson, Alice J, Linet, Martha S, Schonfeld, Sara J, Freedman, D Michal, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Auvinen, Päivi, Andrulis, Irene L, Glendon, Gord, Knight, Julia A, Weerasooriya, Nayana, Cox, Angela, Reed, Malcolm WR, Cross, Simon S, Dunning, Alison M, Ahmed, Shahana, Shah, Mitul, Brauch, Hiltrud, Ko, Yon-Dschun, Brüning, Thomas, Lambrechts, Diether, Reumers, Joke, Smeets, Ann, Wang-Gohrke, Shan, Hall, Per, Czene, Kamila, Liu, Jianjun, Irwanto, Astrid K, Chenevix-Trench, Georgia, Holland, Helene, Giles, Graham G, Baglietto, Laura, Severi, Gianluca, Bojensen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, John, Esther M, West, Dee W, Whittemore, Alice S, Vachon, Celine, Olson, Janet E, Fredericksen, Zachary, Kosel, Matthew, Hein, Rebecca, Vrieling, Alina, Flesch-Janys, Dieter, Heinz, Judith, Beckmann, Matthias W, Heusinger, Katharina, Ekici, Arif B, Haeberle, Lothar, Humphreys, Manjeet K, Morrison, Jonathan, Easton, Doug F, Pharoah, Paul D, García-Closas, Montserrat, Goode, Ellen L, and Chang-Claude, Jenny
Abstract: Introduction: Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in the Breast Cancer Association Consortium.Methods: We evaluated two-way interactions between each of age at menarche, ever having had a live birth, number of live births, age at first birth and body mass index (BMI) and each of 12 single nucleotide polymorphisms (SNPs) (10q26-rs2981582 (FGFR2), 8q24-rs13281615, 11p15-rs3817198 (LSP1), 5q11-rs889312 (MAP3K1), 16q12-rs3803662 (TOX3), 2q35-rs13387042, 5p12-rs10941679 (MRPS30), 17q23-rs6504950 (COX11), 3p24-rs4973768 (SLC4A7), CASP8-rs17468277, TGFB1-rs1982073 and ESR1-rs3020314). Interactions were tested for by fitting logistic regression models including per-allele and linear trend main effects for SNPs and risk factors, respectively, and single-parameter interaction terms for linear departure from independent multiplicative effects.Results: These analyses were applied to data for up to 26,349 invasive breast cancer cases and up to 32,208 controls from 21 case-control studies. No statistical evidence of interaction was observed beyond that expected by chance. Analyses were repeated using data from 11 population-based studies, and results were very similar.Conclusions: The relative risks for breast cancer associated with the common susceptibility variants identified to date do not appear to vary across women with different reproductive histories or body mass index (BMI). The assumption of multiplicative combined effects for these established genetic and other risk factors in risk prediction models appears justified. © 2010 Milne et al.; licensee BioMed Central Ltd.
Published: 2022

182. Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

Author: Zhang, Ben, Shu, Xiao-Ou, Delahanty, Ryan J., Zeng, Chenjie, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Wen, Wanqing, Long, Jirong, Li, Chun, Dunning, Alison M., Chang-Claude, Jenny, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, Floris, Giuseppe, Schmidt, Marjanka K., Rookus, Matti A., van den Hurk, Katja, de Kort, Wim L. A. M., Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Li, Jingmei, Humphreys, Keith, Brand, Judith, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Menegaux, Florence, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Surowy, Harald, Benitez, Javier, Zamora, M. Pilar, Perez, Jose I. A., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Chenevix-Trench, Georgia, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Marchand, Loic Le, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J., Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Collée, J. Margriet, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Giles, Graham G., Milne, Roger L., McLean, Catriona, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Swerdlow, Anthony J., Ashworth, Alan, Orr, Nick, Jones, Michael, Figueroa, Jonine, Garcia-Closas, Montserrat, Brinton, Louise, Lissowska, Jolanta, Dumont, Martine, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Radice, Paolo, Bogdanova, Natalia, Antonenkova, Natalia, Dörk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubiński, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Hamann, Ute, Torres, Diana, Schmutzler, Rita K., Neuhausen, Susan L., Anton-Culver, Hoda, Kristensen, Vessela N., Grenaker Alnæs, Grethe I., Pierce, Brandon L., Kraft, Peter, Peters, Ulrike, Lindstrom, Sara, Seminara, Daniela, Burgess, Stephen, Ahsan, Habibul, Whittemore, Alice S., John, Esther M., Gammon, Marilie D., Malone, Kathleen E., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Pharoah, Paul D. P., Simard, Jacques, Hall, Per, Hunter, David J., Easton, Douglas F., and Zheng, Wei
Published: 2015
Full Text: View/download PDF

183. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author: Mavaddat, Nasim, Pharoah, Paul D. P., Michailidou, Kyriaki, Tyrer, Jonathan, Brook, Mark N., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Peto, Julian, dos-Santos-Silva, Isabel, Dudbridge, Frank, Johnson, Nichola, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., Lambrechts, Diether, Wildiers, Hans, Van Ongeval, Chantal, van Limbergen, Erik, Kristensen, Vessela, Grenaker Alnæs, Grethe, Nord, Silje, Borresen-Dale, Anne-Lise, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen M., Hunter, David J., Lindstrom, Sara, Tamimi, Rulla M., Kraft, Peter, Rahman, Nazneen, Turnbull, Clare, Renwick, Anthony, Seal, Sheila, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Menéndez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Bernstein, Leslie, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Khusnutdinova, Elza, Bermisheva, Marina, Prokofyeva, Darya, Takhirova, Zalina, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Schürmann, Peter, Bremer, Michael, Christiansen, Hans, Park-Simon, Tjoung-Won, Hillemanns, Peter, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Pensotti, Valeria, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Sigurdson, Alice J., Doody, Michele M., Hamann, Ute, Torres, Diana, Ulmer, Hans-Ulrich, Försti, Asta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Marie Mulligan, Anna, Chenevix-Trench, Georgia, Balleine, Rosemary, Giles, Graham G., Milne, Roger L., McLean, Catriona, Lindblom, Annika, Margolin, Sara, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Eilber, Ursula, Wang-Gohrke, Shan, Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., Koppert, Linetta B., Carpenter, Jane, Clarke, Christine, Scott, Rodney, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Karina Dieffenbach, Aida, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Offit, Kenneth, Vijai, Joseph, Robson, Mark, Rau-Murthy, Rohini, Dwek, Miriam, Swann, Ruth, Annie Perkins, Katherine, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Eccles, Diana M., Tapper, William J., Rafiq, Sajjad, John, Esther M., Whittemore, Alice S., Slager, Susan, Yannoukakos, Drakoulis, Toland, Amanda E., Yao, Song, Zheng, Wei, Halverson, Sandra L., González-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Simard, Jacques, Hall, Per, Easton, Douglas F., and Garcia-Closas, Montserrat
Published: 2015
Full Text: View/download PDF

184. 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
Full Text: View/download PDF

185. A Genome-Wide Gene-Based Gene–Environment Interaction Study of Breast Cancer in More than 90,000 Women

Author: Wang, Xiaoliang, primary, Chen, Hongjie, additional, Kapoor, Pooja Middha, additional, Su, Yu-Ru, additional, Bolla, Manjeet K., additional, Dennis, Joe, additional, Dunning, Alison M., additional, Lush, Michael, additional, Wang, Qin, additional, Michailidou, Kyriaki, additional, Pharoah, Paul D.P., additional, Hopper, John L., additional, Southey, Melissa C., additional, Koutros, Stella, additional, Freeman, Laura E. Beane, additional, Stone, Jennifer, additional, Rennert, Gad, additional, Shibli, Rana, additional, Murphy, Rachel A., additional, Aronson, Kristan, additional, Guénel, Pascal, additional, Truong, Thérèse, additional, Teras, Lauren R., additional, Hodge, James M., additional, Canzian, Federico, additional, Kaaks, Rudolf, additional, Brenner, Hermann, additional, Arndt, Volker, additional, Hoppe, Reiner, additional, Lo, Wing-Yee, additional, Behrens, Sabine, additional, Mannermaa, Arto, additional, Kosma, Veli-Matti, additional, Jung, Audrey, additional, Becher, Heiko, additional, Giles, Graham G., additional, Haiman, Christopher A., additional, Maskarinec, Gertraud, additional, Scott, Christopher, additional, Winham, Stacey, additional, Simard, Jacques, additional, Goldberg, Mark S., additional, Zheng, Wei, additional, Long, Jirong, additional, Troester, Melissa A., additional, Love, Michael I., additional, Peng, Cheng, additional, Tamimi, Rulla, additional, Eliassen, Heather, additional, García-Closas, Montserrat, additional, Figueroa, Jonine, additional, Ahearn, Thomas, additional, Yang, Rose, additional, Evans, D. Gareth, additional, Howell, Anthony, additional, Hall, Per, additional, Czene, Kamila, additional, Wolk, Alicja, additional, Sandler, Dale P., additional, Taylor, Jack A., additional, Swerdlow, Anthony J., additional, Orr, Nick, additional, Lacey, James V., additional, Wang, Sophia, additional, Olsson, Håkan, additional, Easton, Douglas F., additional, Milne, Roger L., additional, Hsu, Li, additional, Kraft, Peter, additional, Chang-Claude, Jenny, additional, and Lindström, Sara, additional
Published: 2022
Full Text: View/download PDF

186. FinnGen: Unique genetic insights from combining isolated population and national health register data

Author: Kurki, Mitja I., primary, Karjalainen, Juha, additional, Palta, Priit, additional, Sipilä, Timo P., additional, Kristiansson, Kati, additional, Donner, Kati, additional, Reeve, Mary P., additional, Laivuori, Hannele, additional, Aavikko, Mervi, additional, Kaunisto, Mari A., additional, Loukola, Anu, additional, Lahtela, Elisa, additional, Mattsson, Hannele, additional, Laiho, Päivi, additional, Della Briotta Parolo, Pietro, additional, Lehisto, Arto, additional, Kanai, Masahiro, additional, Mars, Nina, additional, Rämö, Joel, additional, Kiiskinen, Tuomo, additional, Heyne, Henrike O., additional, Veerapen, Kumar, additional, Rüeger, Sina, additional, Lemmelä, Susanna, additional, Zhou, Wei, additional, Ruotsalainen, Sanni, additional, Pärn, Kalle, additional, Hiekkalinna, Tero, additional, Koskelainen, Sami, additional, Paajanen, Teemu, additional, Llorens, Vincent, additional, Gracia-Tabuenca, Javier, additional, Siirtola, Harri, additional, Reis, Kadri, additional, Elnahas, Abdelrahman G., additional, Aalto-Setälä, Katriina, additional, Alasoo, Kaur, additional, Arvas, Mikko, additional, Auro, Kirsi, additional, Biswas, Shameek, additional, Bizaki-Vallaskangas, Argyro, additional, Carpen, Olli, additional, Chen, Chia-Yen, additional, Dada, Oluwaseun A., additional, Ding, Zhihao, additional, Ehm, Margaret G., additional, Eklund, Kari, additional, Färkkilä, Martti, additional, Finucane, Hilary, additional, Ganna, Andrea, additional, Ghazal, Awaisa, additional, Graham, Robert R., additional, Green, Eric, additional, Hakanen, Antti, additional, Hautalahti, Marco, additional, Hedman, Åsa, additional, Hiltunen, Mikko, additional, Hinttala, Reetta, additional, Hovatta, Iiris, additional, Hu, Xinli, additional, Huertas-Vazquez, Adriana, additional, Huilaja, Laura, additional, Hunkapiller, Julie, additional, Jacob, Howard, additional, Jensen, Jan-Nygaard, additional, Joensuu, Heikki, additional, John, Sally, additional, Julkunen, Valtteri, additional, Jung, Marc, additional, Junttila, Juhani, additional, Kaarniranta, Kai, additional, Kähönen, Mika, additional, Kajanne, Risto M., additional, Kallio, Lila, additional, Kälviäinen, Reetta, additional, Kaprio, Jaakko, additional, Kerimov, Nurlan, additional, Kettunen, Johannes, additional, Kilpeläinen, Elina, additional, Kilpi, Terhi, additional, Klinger, Katherine, additional, Kosma, Veli-Matti, additional, Kuopio, Teijo, additional, Kurra, Venla, additional, Laisk, Triin, additional, Laukkanen, Jari, additional, Lawless, Nathan, additional, Liu, Aoxing, additional, Longerich, Simonne, additional, Mägi, Reedik, additional, Mäkelä, Johanna, additional, Mäkitie, Antti, additional, Malarstig, Anders, additional, Mannermaa, Arto, additional, Maranville, Joseph, additional, Matakidou, Athena, additional, Meretoja, Tuomo, additional, Mozaffari, Sahar V., additional, Niemi, Mari EK., additional, Niemi, Marianna, additional, Niiranen, Teemu, additional, O’Donnell, Christopher J., additional, Obeidat, Ma’en, additional, Okafo, George, additional, Ollila, Hanna M., additional, Palomäki, Antti, additional, Palotie, Tuula, additional, Partanen, Jukka, additional, Paul, Dirk S., additional, Pelkonen, Margit, additional, Pendergrass, Rion K., additional, Petrovski, Slavé, additional, Pitkäranta, Anne, additional, Platt, Adam, additional, Pulford, David, additional, Punkka, Eero, additional, Pussinen, Pirkko, additional, Raghavan, Neha, additional, Rahimov, Fedik, additional, Rajpal, Deepak, additional, Renaud, Nicole A., additional, Riley-Gillis, Bridget, additional, Rodosthenous, Rodosthenis, additional, Saarentaus, Elmo, additional, Salminen, Aino, additional, Salminen, Eveliina, additional, Salomaa, Veikko, additional, Schleutker, Johanna, additional, Serpi, Raisa, additional, Shen, Huei-yi, additional, Siegel, Richard, additional, Silander, Kaisa, additional, Siltanen, Sanna, additional, Soini, Sirpa, additional, Soininen, Hilkka, additional, Sul, Jae H., additional, Tachmazidou, Ioanna, additional, Tasanen, Kaisa, additional, Tienari, Pentti, additional, Toppila-Salmi, Sanna, additional, Tukiainen, Taru, additional, Tuomi, Tiinamaija, additional, Turunen, Joni A., additional, Ulirsch, Jacob C., additional, Vaura, Felix, additional, Virolainen, Petri, additional, Waring, Jeffrey, additional, Waterworth, Dawn, additional, Yang, Robert, additional, Nelis, Mari, additional, Reigo, Anu, additional, Metspalu, Andres, additional, Milani, Lili, additional, Esko, Tõnu, additional, Fox, Caroline, additional, Havulinna, Aki S., additional, Perola, Markus, additional, Ripatti, Samuli, additional, Jalanko, Anu, additional, Laitinen, Tarja, additional, Mäkelä, Tomi, additional, Plenge, Robert, additional, McCarthy, Mark, additional, Runz, Heiko, additional, Daly, Mark J., additional, and Palotie, Aarno, additional
Published: 2022
Full Text: View/download PDF

187. Circulating Cell-Free DNA Reflects the Clonal Evolution of Breast Cancer Tumors

Author: Kujala, Jouni, primary, Hartikainen, Jaana M., additional, Tengström, Maria, additional, Sironen, Reijo, additional, Auvinen, Päivi, additional, Kosma, Veli-Matti, additional, and Mannermaa, Arto, additional
Published: 2022
Full Text: View/download PDF

188. Additional file 1 of Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Author: Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T., Fortuno, Cristina, González-Neira, Anna, Heijl, Stephan M., Adank, Muriel A., Ahearn, Thomas U., Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bremer, Michael, Briceno, Ignacio, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collée, J. Margriet, Czene, Kamila, Dennis, Joe, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N., Lakeman, Inge M. M., Li, Jingmei, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubiński, Jan, Luccarini, Craig, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G., Oosterwijk, Jan C., Park, Sue K., Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J., Waltes, Regina, Wang, Qin, Yang, Xiaohong R., Pharoah, Paul D. P., Schmidt, Marjanka K., Benitez, Javier, Vroling, Bas, Dunning, Alison M., Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B., Vreeswijk, Maaike P. G., and Easton, Douglas F.
Subjects: Data_FILES
Abstract: Additional file 1.
Published: 2022
Full Text: View/download PDF

189. 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
Full Text: View/download PDF

190. Rare germline copy number variants (CNVs) and breast cancer risk

Author: Dennis, Joe, Tyrer, Jonathan, Walker, Logan C, Michailidou, Kyriaki, Dorling, Leila, Bolla, Manjeet K, Wang, Jean, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Freeman, Laura E Beane, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Castelao, Jose E, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Clarke, Christine L, Kristensen, Vessela N, Sahlberg, Kristine K, Børresen-Dale, Anne-Lise, Gram, Inger Torhild, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, Alnæs, Grethe I Grenaker, Collée, J Margriet, Lacey, James, Martinez, Elena, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Clarke, Christine, Carpenter, Jane, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, Sachchithananthan, Mythily, Campbell, Ian, De Fazio, Anna, Fox, Stephen, Kirk, Judy, Lindeman, Geoff, Milne, Roger, Southey, Melissa, Spurdle, Amanda, Thorne, Heather, Jager, Agnes, Jakubowska, Anna, John, Esther M, Johnson, Nichola, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kubelka-Sabit, Katerina, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Larson, Nicole L, Linet, Martha, Ogrodniczak, Alicja, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Muranen, Taru A, Murphy, Rachel A, Nevanlinna, Heli, Olson, Janet E, Olsson, Håkan, Park-Simon, Tjoung-Won, Perou, Charles M, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Shibli, Rana, Smeets, Ann, Soucy, Penny, Southey, Melissa C, Swerdlow, Anthony J, Tamimi, Rulla M, Taylor, Jack A, Teras, Lauren R, Terry, Mary Beth, Tomlinson, Ian, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Zheng, Wei, Ziogas, Argyrios, Simard, Jacques, Dunning, Alison, Pharoah, Paul, Easton, Douglas, Dennis, Joe [0000-0003-4591-1214], Tyrer, Jonathan [0000-0003-3724-4757], Walker, Logan C [0000-0003-0018-3719], Michailidou, Kyriaki [0000-0001-7065-1237], Wang, Jean [0000-0002-9139-0627], Andrulis, Irene L [0000-0002-4226-6435], Arndt, Volker [0000-0001-9320-8684], Aronson, Kristan J [0000-0002-7865-7243], Behrens, Sabine [0000-0002-9714-104X], Kristensen, Vessela N [0000-0001-5012-7438], Dörk, Thilo [0000-0002-9458-0282], Dossus, Laure [0000-0003-2716-5748], Figueroa, Jonine [0000-0002-5100-623X], Fritschi, Lin [0000-0002-7692-3560], Giles, Graham G [0000-0003-4946-9099], Hollestelle, Antoinette [0000-0003-1166-1966], Jakubowska, Anna [0000-0002-5650-0501], Johnson, Nichola [0000-0002-8230-5662], Jones, Michael E [0000-0001-7479-3451], Keeman, Renske [0000-0002-5452-9933], Larson, Nicole L [0000-0002-2129-6934], Milne, Roger L [0000-0001-5764-7268], Nevanlinna, Heli [0000-0002-0916-2976], Olson, Janet E [0000-0003-4944-7789], Peterlongo, Paolo [0000-0001-6951-6855], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Pylkäs, Katri [0000-0002-2449-0521], Rennert, Gad [0000-0002-8512-068X], Tomlinson, Ian [0000-0003-3037-1470], Truong, Thérèse [0000-0002-2943-6786], Vachon, Celine M [0000-0002-1962-9322], Wolk, Alicja [0000-0001-7387-6845], Ziogas, Argyrios [0000-0003-4529-3727], Simard, Jacques [0000-0001-6906-3390], Dunning, Alison [0000-0001-6651-7166], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Wilson, Leila [0000-0003-1214-8080], Clinical Genetics, Medical Oncology, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, and Clinicum
Subjects: endocrine system diseases, 45/43, Medicine (miscellaneous), Genome-wide association studies, Basic medicine, Breast cancer, Other medical sciences, Runx2, Risk Factors, Biology (General), skin and connective tissue diseases, 0303 health sciences, 030305 genetics & heredity, article, 3. Good health, Female, General Agricultural and Biological Sciences, Medical Genetics, Mutations, DNA Copy Number Variations, Locus, QH301-705.5, kConFab/AOCS Investigators, ABCTB Investigators, 631/208/205/2138, Breast Neoplasms, Breast Neoplasms/genetics, General Biochemistry, Genetics and Molecular Biology, NBCS Collaborators, Association, Deletion, 03 medical and health sciences, SDG 3 - Good Health and Well-being, mental disorders, Humans, 030304 developmental biology, Medicinsk genetik, Cancer och onkologi, Genome, Human, Health sciences, 631/67/1347, CTS Consortium, Germ Cells, Genes, Clinical medicine, Cancer and Oncology, Case-Control Studies, 3111 Biomedicine, Structural variation, Brca1, Genome-Wide Association Study
Abstract: Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E−18). Nine other genes were associated with a p-value, Dennis et al. investigate potential breast cancer associations with rare germline copy number variants (CNVs) by conducting a genome-wide analysis in a large breast cancer case-control dataset. The authors detected associations with exonic deletions in established breast cancer susceptibility genes and suggestive associations for a number of non-coding CNVs.
Published: 2021
Full Text: View/download PDF

191. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

Author: Easton, Douglas F, Lesueur, Fabienne, Decker, Brennan, Michailidou, Kyriaki, Li, Jun, Allen, Jamie, Luccarini, Craig, Pooley, Karen A, Shah, Mitul, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahmad, Jamil, Thompson, Ella R, Damiola, Francesca, Pertesi, Maroulio, Voegele, Catherine, Mebirouk, Noura, Robinot, Nivonirina, Durand, Geoffroy, Forey, Nathalie, Luben, Robert N, Ahmed, Shahana, Aittomäki, Kristiina, Anton-Culver, Hoda, Arndt, Volker, Baynes, Caroline, Beckman, Matthias W, Benitez, Javier, Van Den Berg, David, Blot, William J, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Chang-Claude, Jenny, Chia, Kee Seng, Choi, Ji-Yeob, Conroy, Don M, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Fostira, Florentia, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hart, Steven N, Hartman, Mikael, Hooning, Maartje J, Hsiung, Chia-Ni, Ito, Hidemi, Jakubowska, Anna, James, Paul A, John, Esther M, Johnson, Nichola, Jones, Michael, Kabisch, Maria, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lambrechts, Diether, Li, Na, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Meindl, Alfons, Mitchell, Gillian, Muir, Kenneth, Nevelsteen, Ines, van den Ouweland, Ans, Peterlongo, Paolo, Phuah, Sze Yee, Pylkäs, Katri, Rowley, Simone M, Sangrajrang, Suleeporn, Schmutzler, Rita K, Shen, Chen-Yang, Shu, Xiao-Ou, Southey, Melissa C, Surowy, Harald, Swerdlow, Anthony, Teo, Soo H, Tollenaar, Rob A E M, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Vachon, Celine, Verhoef, Senno, Wong-Brown, Michelle, Zheng, Wei, Zheng, Ying, Nevanlinna, Heli, Scott, Rodney J, Andrulis, Irene L, Wu, Anna H, Hopper, John L, Couch, Fergus J, Winqvist, Robert, Burwinkel, Barbara, Sawyer, Elinor J, Schmidt, Marjanka K, Rudolph, Anja, Dörk, Thilo, Brauch, Hiltrud, Hamann, Ute, Neuhausen, Susan L, Milne, Roger L, Fletcher, Olivia, Pharoah, Paul D P, Campbell, Ian G, Dunning, Alison M, Le Calvez-Kelm, Florence, Goldgar, David E, Tavtigian, Sean V, and Chenevix-Trench, Georgia
Published: 2016
Full Text: View/download PDF

192. Supplement to: Breast-cancer risk in families with mutations in PALB2.

Author: Antoniou, Antonis C., Casadei, Silvia, Heikkinen, Tuomas, Barrowdale, Daniel, Pylkäs, Katri, Roberts, Jonathan, Lee, Andrew, Subramanian, Deepak, De Leeneer, Kim, Fostira, Florentia, Tomiak, Eva, Neuhausen, Susan L., Teo, Zhi L., Khan, Sofia, Aittomäki, Kristiina, Moilanen, Jukka S., Turnbull, Clare, Seal, Sheila, Mannermaa, Arto, Kallioniemi, Anne, Lindeman, Geoffrey J., Buys, Saundra S., Andrulis, Irene, Radice, Paolo, Tondini, Carlo, Manoukian, Siranoush, Toland, Amanda E., Miron, Penelope, kConFab, Weitzel, Jeffery N., Domchek, Susan, Poppe, Bruce, Claes, Katheen B.M., Yannoukakos, Drakoulis, Concannon, Patrick, Bernstein, Jonine L., James, Paul A., Easton, Douglas, Goldgar, David E., Hopper, John L., Rahman, Nazneen, Peterlongo, Paolo, Nevanlinna, Heli, King, Mary-Claire, Couch, Fergus J, Southey, Melissa C., Winqvist, Robert, Foulkes, William D., and Tischkowitz, Marc
Published: 2014

193. Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Author: Park, Hanla A, Neumeyer, Sonja, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Baten, Adinda, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y, Burwinkel, Barbara, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fritschi, Lin, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Grip, Mervi, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Han, Sileny, Harkness, Elaine F, Hart, Steven N, He, Wei, Heemskerk-Gerritsen, Bernadette AM, Hopper, John L, Hunter, David J, ABCTB Investigators, kConFab Investigators, Jager, Agnes, Jakubowska, Anna, John, Esther M, Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Koppert, Linetta B, Koutros, Stella, Kristensen, Vessela N, Kurian, Allison W, Lacey, James, Lambrechts, Diether, Le Marchand, Loic, Lo, Wing-Yee, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Meindl, Alfons, and Menon, Usha
Subjects: Genotyping Techniques, Oncology and Carcinogenesis, ABCTB Investigators, Breast Neoplasms, NBCS Collaborators, Cigarette Smoking, Substance Misuse, Clinical Research, Breast Cancer, Tobacco, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Oncology & Carcinogenesis, Polymorphism, Aetiology, Cancer, Tobacco Smoke and Health, Prevention, Human Genome, Substance Abuse, Genetic Pleiotropy, Single Nucleotide, Mendelian Randomization Analysis, Good Health and Well Being, Case-Control Studies, Public Health and Health Services, kConFab Investigators, Female, Drug Abuse (NIDA only), Genome-Wide Association Study
Abstract: BackgroundDespite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk.MethodsWe applied Mendelian randomisation (MR) to evaluate a potential causal effect of cigarette smoking on breast cancer risk. Both individual-level data as well as summary statistics for 164 single-nucleotide polymorphisms (SNPs) reported in genome-wide association studies of lifetime smoking index (LSI) or cigarette per day (CPD) were used to obtain MR effect estimates. Data from 108,420 invasive breast cancer cases and 87,681 controls were used for the LSI analysis and for the CPD analysis conducted among ever-smokers from 26,147 cancer cases and 26,072 controls. Sensitivity analyses were conducted to address pleiotropy.ResultsGenetically predicted LSI was associated with increased breast cancer risk (OR 1.18 per SD, 95% CI: 1.07-1.30, P = 0.11 × 10-2), but there was no evidence of association for genetically predicted CPD (OR 1.02, 95% CI: 0.78-1.19, P = 0.85). The sensitivity analyses yielded similar results and showed no strong evidence of pleiotropic effect.ConclusionOur MR study provides supportive evidence for a potential causal association with breast cancer risk for lifetime smoking exposure but not cigarettes per day among smokers.
Published: 2021

194. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Author: Escala-Garcia, Maria, Canisius, Sander, Keeman, Renske, Beesley, Jonathan, Anton-Culver, Hoda, Arndt, Volker, Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Couch, Fergus J, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Dörk, Thilo, Dunning, Alison M, Easton, Douglas F, Ekici, Arif B, Eliassen, A Heather, Fasching, Peter A, Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Geisler, Jürgen, Giles, Graham G, Grip, Mervi, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hartikainen, Jaana M, Heemskerk-Gerritsen, Bernadette AM, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Hunter, David J, Jacot, William, Jakubowska, Anna, John, Esther M, Jung, Audrey Y, Kaaks, Rudolf, Khusnutdinova, Elza, Koppert, Linetta B, Kraft, Peter, Kristensen, Vessela N, Kurian, Allison W, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Luben, Robert N, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Muranen, Taru A, Nevanlinna, Heli, Olshan, Andrew F, Olsson, Håkan, Park-Simon, Tjoung-Won, Patel, Alpa V, Peterlongo, Paolo, Pharoah, Paul DP, Punie, Kevin, Radice, Paolo, Rennert, Gad, Rennert, Hedy S, Romero, Atocha, Roylance, Rebecca, Rüdiger, Thomas, Ruebner, Matthias, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schoemaker, Minouk J, Scott, Christopher, Southey, Melissa C, Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Teras, Lauren R, Thomas, Emilie, Tomlinson, Ian, Troester, Melissa A, Vachon, Celine M, Wang, Qin, Winqvist, Robert, and Wolk, Alicja
Subjects: screening and diagnosis, Tumor, Prevention, kConFab/AOCS Investigators, Genetic Variation, Breast Neoplasms, Single Nucleotide, Kaplan-Meier Estimate, 4.1 Discovery and preclinical testing of markers and technologies, Detection, Germ Cells, Cancer Survivors, Breast Cancer, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Female, Polymorphism, Aetiology, skin and connective tissue diseases, Germ-Line Mutation, Biomarkers, Cancer
Abstract: Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10-8 and 4.42 × 10-8). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations.
Published: 2021

195. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

Author: Orr, Nick, Dudbridge, Frank, Dryden, Nicola, Maguire, Sarah, Novo, Daniela, Perrakis, Eleni, Johnson, Nichola, Ghoussaini, Maya, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Vanʼt Veer, Laura J., Hogervorst, Frans B., Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Gibson, Lorna, Aitken, Zoe, Warren, Helen, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Chistof, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, Maria Pilar, Arias Perez, Jose Ignacio, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Hamann, Ute, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Ko, Yon-Dschun, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Bogdanova, Natalia, Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Beesley, Jonathan, Lambrechts, Diether, Moisse, Matthieu, Floris, Guiseppe, Beuselinck, Benoit, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Peissel, Bernard, Pensotti, Valeria, Couch, Fergus J., Olson, Janet E., Slettedahl, Seth, Vachon, Celine, Giles, Graham G., Milne, Roger L., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Kristensen, Vessela, Alnæs, Grethe Grenaker, Nord, Silje, Borresen-Dale, Anne-Lise, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robertus A. E. M., Seynaeve, Caroline M., Van Asperen, Christi J., Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Klevebring, Daniel, Hooning, Maartje J., Hollestelle, Antoinette, van Deurzen, Carolien H. M., Kriege, Mieke, Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Pharoah, Paul D. P., Dunning, Alison M., Shah, Mitul, Perkins, Barbara J., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Ashworth, Alan, Swerdlow, Anthony, Jones, Michael, Schoemaker, Minouk J., Meindl, Alfons, Schmutzler, Rita K., Olswold, Curtis, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Matsuo, Keitaro, Ito, Hidema, Iwata, Hiroji, Ishiguro, Junko, Wu, Anna H., Tseng, Chiu-chen, Van Den Berg, David, Stram, Daniel O., Teo, Soo Hwang, Yip, Cheng Har, Kang, Peter, Ikram, Mohammad Kamran, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Lim, Wei Yen, Lee, Soo Chin, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Wu, Pei-Ei, Hou, Ming-Feng, Yu, Jyh-Cherng, Shen, Chen-Yang, Blot, William, Cai, Qiuyin, Signorello, Lisa B., Luccarini, Craig, Bayes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hunter, David J., Lindstrom, Sara, Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Easton, Douglas F., dos Santos Silva, Isabel, Fletcher, Olivia, and Peto, Julian
Published: 2015
Full Text: View/download PDF

196. Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

Author: Rudolph, Anja, Milne, Roger L., Truong, Thérèse, Knight, Julia A., Seibold, Petra, Flesch-Janys, Dieter, Behrens, Sabine, Eilber, Ursula, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dunning, Alison M., Shah, Mitul, Munday, Hannah R., Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Olson, Janet, Vachon, Celine M., Hallberg, Emily, Castelao, Esteban J., Carracedo, Angel, Torres, Maria, Li, Jingmei, Humphreys, Keith, Cordina-Duverger, Emilie, Menegaux, Florence, Flyger, Henrik, Nordestgaard, Børge G., Nielsen, Sune F., Yesilyurt, Betul T., Floris, Giuseppe, Leunen, Karin, Engelhardt, Ellen G., Broeks, Annegien, Rutgers, Emiel J., Glendon, Gord, Mulligan, Anna Marie, Cross, Simon, Reed, Malcolm, Gonzalez-Neira, Anna, Arias Perez, José Ignacio, Provenzano, Elena, Apicella, Carmel, Southey, Melissa C., Spurdle, Amanda, Häberle, Lothar, Beckmann, Matthias W., Ekici, Arif B., Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, McLean, Catriona, Baglietto, Laura, Chanock, Stephen J., Lissowska, Jolanta, Sherman, Mark E., Brüning, Thomas, Hamann, Ute, Ko, Yon-Dschun, Orr, Nick, Schoemaker, Minouk, Ashworth, Alan, Kosma, Veli-Matti, Kataja, Vesa, Hartikainen, Jaana M., Mannermaa, Arto, Swerdlow, Anthony, Giles, Graham G., Brenner, Hermann, Fasching, Peter A., Chenevix-Trench, Georgia, Hopper, John, Benítez, Javier, Cox, Angela, Andrulis, Irene L., Lambrechts, Diether, Gago-Dominguez, Manuela, Couch, Fergus, Czene, Kamila, Bojesen, Stig E., Easton, Doug F., Schmidt, Marjanka K., Guénel, Pascal, Hall, Per, Pharoah, Paul D. P., Garcia-Closas, Montserrat, and Chang-Claude, Jenny
Published: 2015
Full Text: View/download PDF

197. Hyaluronan synthases (HAS1–3) in stromal and malignant cells correlate with breast cancer grade and predict patient survival

Author: Auvinen, Päivi, Rilla, Kirsi, Tumelius, Ritva, Tammi, Markku, Sironen, Reijo, Soini, Ylermi, Kosma, Veli-Matti, Mannermaa, Arto, Viikari, Jukka, and Tammi, Raija
Published: 2014
Full Text: View/download PDF

198. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Author: Morra, Anna, Escala-Garcia, Maria, Beesley, Jonathan, Keeman, Renske, Canisius, Sander, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S, Caan, Bette, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Cheng, Ting-Yuan David, Clarke, Christine L, NBCS Collaborators, Colonna, Sarah V, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Dörk, Thilo, Dossus, Laure, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fritschi, Lin, Gago-Dominguez, Manuela, García-Sáenz, José A, Giles, Graham G, Grip, Mervi, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N, Hartikainen, Jaana M, Hartmann, Arndt, He, Wei, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Hunter, David J, ABCTB Investigators, kConFab Investigators, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey Y, Kaaks, Rudolf, Keupers, Machteld, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Linet, Martha, Luben, Robert N, Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martens, John WM, Martinez, Maria Elena, Mavroudis, Dimitrios, Michailidou, Kyriaki, Milne, Roger L, Mulligan, Anna Marie, and Muranen, Taru A
Subjects: Oncology and Carcinogenesis, ABCTB Investigators, Breast Neoplasms, Systemic treatment, NBCS Collaborators, Clinical Research, Breast Cancer, Genetics, Humans, 2.1 Biological and endogenous factors, Oncology & Carcinogenesis, Polymorphism, Aetiology, Germ-Line Mutation, Cancer, Tumor biology, Human Genome, Single Nucleotide, Common germline genetic variants, Prognosis, Survival Analysis, kConFab Investigators, Female, Patient subgroups, Genome-Wide Association Study, Breast cancer-specific survival
Abstract: BackgroundGiven the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients.MethodsWe performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years. Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. We assessed the probability of these associations being true positives via the Bayesian false discovery probability (BFDP
Published: 2021

199. High Cell-Free DNA Integrity Is Associated with Poor Breast Cancer Survival

Author: Lamminaho, Maria, primary, Kujala, Jouni, additional, Peltonen, Hanna, additional, Tengström, Maria, additional, Kosma, Veli-Matti, additional, and Mannermaa, Arto, additional
Published: 2021
Full Text: View/download PDF

200. Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study

Author: Räsänen, Joel, Helisalmi, Seppo, Heikkinen, Sami, Raivo, Joose, Korhonen, Ville E., Martiskainen, Henna, Junkkari, Antti, Grenier-Boley, Benjamin, Bellenguez, Céline, Oinas, Minna, Avellan, Cecilia, Frantzen, Janek, Kotkansalo, Anna, Rinne, Jaakko, Ronkainen, Antti, Kauppinen, Mikko, von und zu Fraunberg, Mikael, Lönnrot, Kimmo, Satopää, Jarno, Perola, Markus, Koivisto, Anne M., Julkunen, Valtteri, Portaankorva, Anne M., Mannermaa, Arto, Soininen, Hilkka, Jääskeläinen, Juha E., Lambert, Jean-Charles, Eide, Per K., Palotie, Aarno, Kurki, Mitja I., Hiltunen, Mikko, Leinonen, Ville, and Lipponen, Anssi
Published: 2025
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Region

Database

Publisher

1,643 results on '"Mannermaa, Arto"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources