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27 results on '"Mulligan, Anna M."'

1. Identification of New Genetic Susceptibility Loci for Breast Cancer Through Consideration of Gene‐Environment Interactions

Author: Schoeps, Anja, Rudolph, Anja, Seibold, Petra, Dunning, Alison M, Milne, Roger L, Bojesen, Stig E, Swerdlow, Anthony, Andrulis, Irene, Brenner, Hermann, Behrens, Sabine, Orr, Nicholas, Jones, Michael, Ashworth, Alan, Li, Jingmei, Cramp, Helen, Connley, Dan, Czene, Kamila, Darabi, Hatef, Chanock, Stephen J, Lissowska, Jolanta, Figueroa, Jonine D, Knight, Julia, Glendon, Gord, Mulligan, Anna M, Dumont, Martine, Severi, Gianluca, Baglietto, Laura, Olson, Janet, Vachon, Celine, Purrington, Kristen, Moisse, Matthieu, Neven, Patrick, Wildiers, Hans, Spurdle, Amanda, Kosma, Veli‐Matti, Kataja, Vesa, Hartikainen, Jaana M, Hamann, Ute, Ko, Yon‐Dschun, Dieffenbach, Aida K, Arndt, Volker, Stegmaier, Christa, Malats, Núria, Perez, José I Arias, Benítez, Javier, Flyger, Henrik, Nordestgaard, Børge G, Truong, Thérèse, Cordina‐Duverger, Emilie, Menegaux, Florence, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Häberle, Lothar, Beckmann, Matthias W, Ekici, Arif B, Braaf, Linde, Atsma, Femke, Broek, Alexandra J den, Makalic, Enes, Schmidt, Daniel F, Southey, Melissa C, Cox, Angela, Simard, Jacques, Giles, Graham G, Lambrechts, Diether, Mannermaa, Arto, Brauch, Hiltrud, Guénel, Pascal, Peto, Julian, Fasching, Peter A, Hopper, John, Flesch‐Janys, Dieter, Couch, Fergus, Chenevix‐Trench, Georgia, Pharoah, Paul DP, Garcia‐Closas, Montserrat, Schmidt, Marjanka K, Hall, Per, Easton, Douglas F, and Chang‐Claude, Jenny
Subjects: Biological Sciences, Genetics, Epidemiology, Health Services and Systems, Health Sciences, Genetic Testing, Human Genome, Prevention, Breast Cancer, Aging, Clinical Research, Cancer, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Body Height, Body Mass Index, Breast Neoplasms, Chromosomes, Human, Pair 21, Chromosomes, Human, Pair 6, Female, Gene-Environment Interaction, Genetic Loci, Genetic Predisposition to Disease, Humans, Linkage Disequilibrium, Menarche, Middle Aged, Parity, Polymorphism, Single Nucleotide, Postmenopause, White People, breast cancer risk, gene-environment interaction, polymorphisms, body mass index, case-control study, Public Health and Health Services
Abstract: Genes that alter disease risk only in combination with certain environmental exposures may not be detected in genetic association analysis. By using methods accounting for gene-environment (G × E) interaction, we aimed to identify novel genetic loci associated with breast cancer risk. Up to 34,475 cases and 34,786 controls of European ancestry from up to 23 studies in the Breast Cancer Association Consortium were included. Overall, 71,527 single nucleotide polymorphisms (SNPs), enriched for association with breast cancer, were tested for interaction with 10 environmental risk factors using three recently proposed hybrid methods and a joint test of association and interaction. Analyses were adjusted for age, study, population stratification, and confounding factors as applicable. Three SNPs in two independent loci showed statistically significant association: SNPs rs10483028 and rs2242714 in perfect linkage disequilibrium on chromosome 21 and rs12197388 in ARID1B on chromosome 6. While rs12197388 was identified using the joint test with parity and with age at menarche (P-values = 3 × 10(-07)), the variants on chromosome 21 q22.12, which showed interaction with adult body mass index (BMI) in 8,891 postmenopausal women, were identified by all methods applied. SNP rs10483028 was associated with breast cancer in women with a BMI below 25 kg/m(2) (OR = 1.26, 95% CI 1.15-1.38) but not in women with a BMI of 30 kg/m(2) or higher (OR = 0.89, 95% CI 0.72-1.11, P for interaction = 3.2 × 10(-05)). Our findings confirm comparable power of the recent methods for detecting G × E interaction and the utility of using G × E interaction analyses to identify new susceptibility loci.
Published: 2014

2. Ki67 assessment protocol as an integral biomarker for avoiding radiotherapy in the LUMINA breast cancer trial

Author: Nielsen, Torsten O, primary, Leung, Samuel C Y, additional, Riaz, Nazia, additional, Mulligan, Anna M, additional, Kos, Zuzana, additional, Bane, Anita, additional, and Whelan, Timothy J, additional
Published: 2023
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3. Impact of multi-gene mutational profiling on clinical trial outcomes in metastatic breast cancer

Author: Pezo, Rossanna C., Chen, Tom W., Berman, Hal K., Mulligan, Anna M., Razak, Albiruni A., Siu, Lillian L., Cescon, David W., Amir, Eitan, Elser, Christine, Warr, David G., Sridhar, Srikala S., Yu, Celeste, Wang, Lisa, Stockley, Tracy L., Kamel-Reid, Suzanne, and Bedard, Philippe L.
Published: 2018
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4. Distinguishing luminal breast cancer subtypes by Ki67, progesterone receptor or TP53 status provides prognostic information

Author: Feeley, Linda P, Mulligan, Anna M, Pinnaduwage, Dushanthi, Bull, Shelley B, and Andrulis, Irene L
Published: 2014
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5. Genetic insights into biological mechanisms governing human ovarian ageing

Author: Ruth, Katherine S, Day, Felix R, Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E, Azad, Ajuna, Thompson, Deborah J, Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L, Gonzalez, Javier Martin, Fontanillas, Pierre, Claringbould, Annique, Bakker, Olivier B, Sulem, Patrick, Walters, Robin G, Terao, Chikashi, Turon, Sandra, Horikoshi, Momoko, Lin, Kuang, Onland-Moret, N Charlotte, Sankar, Aditya, Hertz, Emil Peter Thrane, Timshel, Pascal N, Shukla, Vallari, Borup, Rehannah, Olsen, Kristina W, Aguilera, Paula, Ferrer-Roda, Mònica, Huang, Yan, Stankovic, Stasa, Timmers, Paul R H J, Ahearn, Thomas U, Alizadeh, Behrooz Z, Naderi, Elnaz, Andrulis, Irene L, Arnold, Alice M, Aronson, Kristan J, Augustinsson, Annelie, Bandinelli, Stefania, Barbieri, Caterina M, Beaumont, Robin N, Becher, Heiko, Beckmann, Matthias W, Benonisdottir, Stefania, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E, Bolla, Manjeet K, Boomsma, Dorret I, Bowker, Nicholas, Brody, Jennifer A, Broer, Linda, Buring, Julie E, Campbell, Archie, Campbell, Harry, Castelao, Jose E, Catamo, Eulalia, Chanock, Stephen J, Chenevix-Trench, Georgia, Ciullo, Marina, Corre, Tanguy, Couch, Fergus J, Cox, Angela, Crisponi, Laura, Cross, Simon S, Cucca, Francesco, Czene, Kamila, Smith, George Davey, de Geus, Eco J C N, de Mutsert, Renée, De Vivo, Immaculata, Demerath, Ellen W, Dennis, Joe, Dunning, Alison M, Dwek, Miriam, Eriksson, Mikael, Esko, Tõnu, Fasching, Peter A, Faul, Jessica D, Ferrucci, Luigi, Franceschini, Nora, Frayling, Timothy M, Gago-Dominguez, Manuela, Mezzavilla, Massimo, García-Closas, Montserrat, Gieger, Christian, Giles, Graham G, Grallert, Harald, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Guénel, Pascal, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hayward, Caroline, He, Chunyan, He, Wei, Heiss, Gerardo, Høffding, Miya K, Hopper, John L, Hottenga, Jouke J, Hu, Frank, Hunter, David, Ikram, Mohammad A, Jackson, Rebecca D, Joaquim, Micaella D R, John, Esther M, Joshi, Peter K, Karasik, David, Kardia, Sharon L R, Kartsonaki, Christiana, Karlsson, Robert, Kitahara, Cari M, Kolcic, Ivana, Kooperberg, Charles, Kraft, Peter, Kurian, Allison W, Kutalik, Zoltan, La Bianca, Martina, LaChance, Genevieve, Langenberg, Claudia, Launer, Lenore J, Laven, Joop S E, Lawlor, Deborah A, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lindstrom, Sara, Lindstrom, Tricia, Linet, Martha, Liu, YongMei, Liu, Simin, Luan, Jian'an, Mägi, Reedik, Magnusson, Patrik K E, Mangino, Massimo, Mannermaa, Arto, Marco, Brumat, Marten, Jonathan, Martin, Nicholas G, Mbarek, Hamdi, McKnight, Barbara, Medland, Sarah E, Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Metspalu, Andres, Milani, Lili, Milne, Roger L, Montgomery, Grant W, Mook-Kanamori, Dennis O, Mulas, Antonella, Mulligan, Anna M, Murray, Alison, Nalls, Mike A, Newman, Anne, Noordam, Raymond, Nutile, Teresa, Nyholt, Dale R, Olshan, Andrew F, Olsson, Håkan, Painter, Jodie N, Patel, Alpa V, Pedersen, Nancy L, Perjakova, Natalia, Peters, Annette, Peters, Ulrike, Pharoah, Paul D P, Polasek, Ozren, Porcu, Eleonora, Psaty, Bruce M, Rahman, Iffat, Rennert, Gad, Rennert, Hedy S, Ridker, Paul M, Ring, Susan M, Robino, Antonietta, Rose, Lynda M, Rosendaal, Frits R, Rossouw, Jacques, Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Sala, Cinzia F, Saloustros, Emmanouil, Sandler, Dale P, Sanna, Serena, Sawyer, Elinor J, Sarnowski, Chloé, Schlessinger, David, Schmidt, Marjanka K, Schoemaker, Minouk J, Schraut, Katharina E, Scott, Christopher, Shekari, Saleh, Shrikhande, Amruta, Smith, Albert V, Smith, Blair H, Smith, Jennifer A, Sorice, Rossella, Southey, Melissa C, Spector, Tim D, Spinelli, John J, Stampfer, Meir, Stöckl, Doris, van Meurs, Joyce B J, Strauch, Konstantin, Styrkarsdottir, Unnur, Swerdlow, Anthony J, Tanaka, Toshiko, Teras, Lauren R, Teumer, Alexander, Þorsteinsdottir, Unnur, Timpson, Nicholas J, Toniolo, Daniela, Traglia, Michela, Troester, Melissa A, Truong, Thérèse, Tyrrell, Jessica, Uitterlinden, André G, Ulivi, Sheila, Vachon, Celine M, Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Wang, Qin, Wareham, Nicholas J, Weinberg, Clarice R, Weir, David R, Wilcox, Amber N, van Dijk, Ko Willems, Willemsen, Gonneke, Wilson, James F, Wolffenbuttel, Bruce H R, Wolk, Alicja, Wood, Andrew R, Zhao, Wei, Zygmunt, Marek, Chen, Zhengming, Li, Liming, Franke, Lude, Burgess, Stephen, Deelen, Patrick, Pers, Tune H, Grøndahl, Marie Louise, Andersen, Claus Yding, Pujol, Anna, Ruth, Katherine S, Day, Felix R, Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E, Azad, Ajuna, Thompson, Deborah J, Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L, Gonzalez, Javier Martin, Fontanillas, Pierre, Claringbould, Annique, Bakker, Olivier B, Sulem, Patrick, Walters, Robin G, Terao, Chikashi, Turon, Sandra, Horikoshi, Momoko, Lin, Kuang, Onland-Moret, N Charlotte, Sankar, Aditya, Hertz, Emil Peter Thrane, Timshel, Pascal N, Shukla, Vallari, Borup, Rehannah, Olsen, Kristina W, Aguilera, Paula, Ferrer-Roda, Mònica, Huang, Yan, Stankovic, Stasa, Timmers, Paul R H J, Ahearn, Thomas U, Alizadeh, Behrooz Z, Naderi, Elnaz, Andrulis, Irene L, Arnold, Alice M, Aronson, Kristan J, Augustinsson, Annelie, Bandinelli, Stefania, Barbieri, Caterina M, Beaumont, Robin N, Becher, Heiko, Beckmann, Matthias W, Benonisdottir, Stefania, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E, Bolla, Manjeet K, Boomsma, Dorret I, Bowker, Nicholas, Brody, Jennifer A, Broer, Linda, Buring, Julie E, Campbell, Archie, Campbell, Harry, Castelao, Jose E, Catamo, Eulalia, Chanock, Stephen J, Chenevix-Trench, Georgia, Ciullo, Marina, Corre, Tanguy, Couch, Fergus J, Cox, Angela, Crisponi, Laura, Cross, Simon S, Cucca, Francesco, Czene, Kamila, Smith, George Davey, de Geus, Eco J C N, de Mutsert, Renée, De Vivo, Immaculata, Demerath, Ellen W, Dennis, Joe, Dunning, Alison M, Dwek, Miriam, Eriksson, Mikael, Esko, Tõnu, Fasching, Peter A, Faul, Jessica D, Ferrucci, Luigi, Franceschini, Nora, Frayling, Timothy M, Gago-Dominguez, Manuela, Mezzavilla, Massimo, García-Closas, Montserrat, Gieger, Christian, Giles, Graham G, Grallert, Harald, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Guénel, Pascal, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hayward, Caroline, He, Chunyan, He, Wei, Heiss, Gerardo, Høffding, Miya K, Hopper, John L, Hottenga, Jouke J, Hu, Frank, Hunter, David, Ikram, Mohammad A, Jackson, Rebecca D, Joaquim, Micaella D R, John, Esther M, Joshi, Peter K, Karasik, David, Kardia, Sharon L R, Kartsonaki, Christiana, Karlsson, Robert, Kitahara, Cari M, Kolcic, Ivana, Kooperberg, Charles, Kraft, Peter, Kurian, Allison W, Kutalik, Zoltan, La Bianca, Martina, LaChance, Genevieve, Langenberg, Claudia, Launer, Lenore J, Laven, Joop S E, Lawlor, Deborah A, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lindstrom, Sara, Lindstrom, Tricia, Linet, Martha, Liu, YongMei, Liu, Simin, Luan, Jian'an, Mägi, Reedik, Magnusson, Patrik K E, Mangino, Massimo, Mannermaa, Arto, Marco, Brumat, Marten, Jonathan, Martin, Nicholas G, Mbarek, Hamdi, McKnight, Barbara, Medland, Sarah E, Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Metspalu, Andres, Milani, Lili, Milne, Roger L, Montgomery, Grant W, Mook-Kanamori, Dennis O, Mulas, Antonella, Mulligan, Anna M, Murray, Alison, Nalls, Mike A, Newman, Anne, Noordam, Raymond, Nutile, Teresa, Nyholt, Dale R, Olshan, Andrew F, Olsson, Håkan, Painter, Jodie N, Patel, Alpa V, Pedersen, Nancy L, Perjakova, Natalia, Peters, Annette, Peters, Ulrike, Pharoah, Paul D P, Polasek, Ozren, Porcu, Eleonora, Psaty, Bruce M, Rahman, Iffat, Rennert, Gad, Rennert, Hedy S, Ridker, Paul M, Ring, Susan M, Robino, Antonietta, Rose, Lynda M, Rosendaal, Frits R, Rossouw, Jacques, Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Sala, Cinzia F, Saloustros, Emmanouil, Sandler, Dale P, Sanna, Serena, Sawyer, Elinor J, Sarnowski, Chloé, Schlessinger, David, Schmidt, Marjanka K, Schoemaker, Minouk J, Schraut, Katharina E, Scott, Christopher, Shekari, Saleh, Shrikhande, Amruta, Smith, Albert V, Smith, Blair H, Smith, Jennifer A, Sorice, Rossella, Southey, Melissa C, Spector, Tim D, Spinelli, John J, Stampfer, Meir, Stöckl, Doris, van Meurs, Joyce B J, Strauch, Konstantin, Styrkarsdottir, Unnur, Swerdlow, Anthony J, Tanaka, Toshiko, Teras, Lauren R, Teumer, Alexander, Þorsteinsdottir, Unnur, Timpson, Nicholas J, Toniolo, Daniela, Traglia, Michela, Troester, Melissa A, Truong, Thérèse, Tyrrell, Jessica, Uitterlinden, André G, Ulivi, Sheila, Vachon, Celine M, Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Wang, Qin, Wareham, Nicholas J, Weinberg, Clarice R, Weir, David R, Wilcox, Amber N, van Dijk, Ko Willems, Willemsen, Gonneke, Wilson, James F, Wolffenbuttel, Bruce H R, Wolk, Alicja, Wood, Andrew R, Zhao, Wei, Zygmunt, Marek, Chen, Zhengming, Li, Liming, Franke, Lude, Burgess, Stephen, Deelen, Patrick, Pers, Tune H, Grøndahl, Marie Louise, Andersen, Claus Yding, and Pujol, Anna
Abstract: Reproductive longevity is essential for fertility and influences healthy ageing in women1,2, but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at natural menopause (ANM) in about 200,000 women of European ancestry. These common alleles were associated with clinical extremes of ANM; women in the top 1% of genetic susceptibility have an equivalent risk of premature ovarian insufficiency to those carrying monogenic FMR1 premutations3. The identified loci implicate a broad range of DNA damage response (DDR) processes and include loss-of-function variants in key DDR-associated genes. Integration with experimental models demonstrates that these DDR processes act across the life-course to shape the ovarian reserve and its rate of depletion. Furthermore, we demonstrate that experimental manipulation of DDR pathways highlighted by human genetics increases fertility and extends reproductive life in mice. Causal inference analyses using the identified genetic variants indicate that extending reproductive life in women improves bone health and reduces risk of type 2 diabetes, but increases the risk of hormone-sensitive cancers. These findings provide insight into the mechanisms that govern ovarian ageing, when they act, and how they might be targeted by therapeutic approaches to extend fertility and prevent disease.
Published: 2021

6. Genetic insights into biological mechanisms governing human ovarian ageing

Author: Ruth, Katherine S., Day, Felix R., Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E., Azad, Ajuna, Thompson, Deborah J., Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L., Martín-González, Javier, Fasching, Peter A., Faul, Jessica D., Ferrucci, Luigi, Franceschini, Nora, Frayling, Timothy M., Kitahara, Cari M., Gago-Dominguez, Manuela, Mezzavilla, Massimo, García-Closas, Montserrat, Sawyer, Elinor J., Grøndahl, Marie Louise, Gieger, Christian, Giles, Graham G., Grallert, Harald, Gudbjartsson, Daniel F., Gudnason, Vilmundur, Guénel, Pascal, Haiman, Christopher A., Kolcic, Ivana, Håkansson, Niclas, Hall, Per, Andersen, Claus Yding, Lin, Kuang, Hayward, Caroline, He, Chunyan, He, Wei, Heiss, Gerardo, Kooperberg, Charles, Kraft, Peter, Kurian, Allison W., Kutalik, Zoltan, Claringbould, Annique, Pujol, Anna, La Bianca, Martina, Høffding, Miya K., LaChance, Genevieve, Langenberg, Claudia, Launer, Lenore J., Laven, Joop S. E., Lawlor, Deborah A., Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, López-Contreras, Andrés J., Lindstrom, Sara, Bakker, Olivier B., Sarnowski, Chloé, Lindstrom, Tricia, Linet, Martha, Liu, YongMei, Liu, Simin, Luan, Jian’an, Mägi, Reedik, Magnusson, Patrik K. E., Daniel, Jeremy A., Mangino, Massimo, Mannermaa, Arto, Marco, Brumat, Schlessinger, David, Sulem, Patrick, Marten, Jonathan, Martin, Nicholas G., Mbarek, Hamdi, McKnight, Barbara, Medland, Sarah E., Olsen, Kristina W., Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Metspalu, Andres, Marjanka K. Schmidt, Milani, Lili, Walters, Robin G., Milne, Roger L., Montgomery, Grant W., Mook-Kanamori, Dennis O., Stefansson, Kari, Mulas, Antonella, Mulligan, Anna M., Murray, Alison, Nalls, Mike A., Newman, Anne, Schoemaker, Minouk J., Noordam, Raymond, Nutile, Teresa, Terao, Chikashi, Nyholt, Dale R., Chang-Claude, Jenny, Olshan, Andrew F., Olsson, Håkan, Painter, Jodie N., Patel, Alpa V., Pedersen, Nancy L., Perjakova, Natalia, Schraut, Katharina E., Peters, Annette, Peters, Ulrike, Pharoah, Paul D. P., Schouw, Yvonne T. van der, Turon, Sandra, Polasek, Ozren, Porcu, Eleonora, Psaty, Bruce M., Rahman, Iffat, Rennert, Gad, Rennert, Hedy S., Scott, Christopher, Ridker, Paul M., Ring, Susan M., John, Esther M., Robino, Antonietta, Rose, Lynda M., Horikoshi, Momoko, Rosendaal, Frits R., Shekari, Saleh, Shrikhande, Amruta, Smith, Albert V., Smith, Blair H., Hopper, John L., Onland-Moret, N. Charlotte, Rossouw, Jacques, Smith, Jennifer A., Sorice, Rossella, Southey, Melissa C., Spector, Tim D., Spinelli, John J., Stampfer, Meir, Stöckl, Doris, Meurs, Joyce B. J. van, Strauch, Konstantin, Hottenga, Jouke J., Lunetta, Kathryn L., Styrkarsdottir, Unnur, Sankar, Aditya, Swerdlow, Anthony J., Tanaka, Toshiko, Teras, Lauren R., Teumer, Alexander, Þorsteinsdottir, Unnur, Timpson, Nicholas J., Toniolo, Daniela, Traglia, Michela, Chasman, Daniel I., Hu, Frank, Troester, Melissa A., Truong, Thérèse, Thrane Hertz, Emil Peter, Tyrrell, Jessica, Uitterlinden, André G., Ulivi, Sheila, Vachon, Celine M., Vitart, Veronique, Völker, Uwe, Easton, Douglas F., Vollenweider, Peter, Hunter, David, Völzke, Henry, Wang, Qin, Wareham, Nicholas J., Timshel, Pascal N., Weinberg, Clarice R., Weir, David R., Amber N. Wilcox, Dijk, Ko Willems van, Visser, Jenny A., Willemsen, Gonneke, Wilson, James F., Ikram, Mohammad A., Wolffenbuttel, Bruce H. R., Wolk, Alicja, Wood, Andrew R., Zhao, Wei, Shukla, Vallari, Zygmunt, Marek, Biobank-based Integrative Omics Study (BIOS) Consortium, Ozanne, Susan E., eQTLGen Consortium, The Biobank Japan Project, China Kadoorie Biobank Collaborative Group, Jackson, Rebecca D., KConFab Investigators, The LifeLines Cohort Study, The InterAct consortium, Me Research Team, Chen, Zhengming, Borup, Rehannah, Namekawa, Satoshi H., Li, Liming, Franke, Lude, Burgess, Stephen, Deelen, Patrick, Joaquim, Micaella D. R., Pers, Tune H., Solc, Petr, Aguilera, Paula, Murabito, Joanne M., Ong, Ken K., Rudan, Igor, Joshi, Peter K., Hoffmann, Eva R., Murray, Anna, Roig, Ignasi, Perry, John R. B., Ferrer-Roda, Mònica, Huang, Yan, Stankovic, Stasa, Timmers, Paul R. H. J., Ahearn, Thomas U., Rueedi, Rico, Alizadeh, Behrooz Z., Fontanillas, Pierre, Naderi, Elnaz, Andrulis, Irene L., Arnold, Alice M., Aronson, Kristan J., Augustinsson, Annelie, Bandinelli, Stefania, Barbieri, Caterina M., Beaumont, Robin N., Ruggiero, Daniela, Becher, Heiko, Beckmann, Matthias W., Karasik, David, Benonisdottir, Stefania, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E., Bolla, Manjeet K., Boomsma, Dorret I., Sala, Cinzia F., Bowker, Nicholas, Brody, Jennifer A., Broer, Linda, Kardia, Sharon L. R., Buring, Julie E., Campbell, Archie, Campbell, Harry, Castelao, Jose E., Catamo, Eulalia, Chanock, Stephen J., Saloustros, Emmanouil, Chenevix-Trench, Georgia, Ciullo, Marina, Corre, Tanguy, Couch, Fergus J., Kartsonaki, Christiana, Cox, Angela, Crisponi, Laura, Cross, Simon S., Cucca, Francesco, Czene, Kamila, Sandler, Dale P., Smith, George Davey, Geus, Eco J. C. de, Mutsert, Renée de, De Vivo, Immaculata, Demerath, Ellen W., Karlsson, Robert, Dennis, Joe, Dunning, Alison M., Dwek, Miriam, Eriksson, Mikael, Sanna, Serena, Esko, Tonu, Ruth, Katherine S., Day, Felix R., Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E., Azad, Ajuna, Thompson, Deborah J., Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L., Martín-González, Javier, Fasching, Peter A., Faul, Jessica D., Ferrucci, Luigi, Franceschini, Nora, Frayling, Timothy M., Kitahara, Cari M., Gago-Dominguez, Manuela, Mezzavilla, Massimo, García-Closas, Montserrat, Sawyer, Elinor J., Grøndahl, Marie Louise, Gieger, Christian, Giles, Graham G., Grallert, Harald, Gudbjartsson, Daniel F., Gudnason, Vilmundur, Guénel, Pascal, Haiman, Christopher A., Kolcic, Ivana, Håkansson, Niclas, Hall, Per, Andersen, Claus Yding, Lin, Kuang, Hayward, Caroline, He, Chunyan, He, Wei, Heiss, Gerardo, Kooperberg, Charles, Kraft, Peter, Kurian, Allison W., Kutalik, Zoltan, Claringbould, Annique, Pujol, Anna, La Bianca, Martina, Høffding, Miya K., LaChance, Genevieve, Langenberg, Claudia, Launer, Lenore J., Laven, Joop S. E., Lawlor, Deborah A., Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, López-Contreras, Andrés J., Lindstrom, Sara, Bakker, Olivier B., Sarnowski, Chloé, Lindstrom, Tricia, Linet, Martha, Liu, YongMei, Liu, Simin, Luan, Jian’an, Mägi, Reedik, Magnusson, Patrik K. E., Daniel, Jeremy A., Mangino, Massimo, Mannermaa, Arto, Marco, Brumat, Schlessinger, David, Sulem, Patrick, Marten, Jonathan, Martin, Nicholas G., Mbarek, Hamdi, McKnight, Barbara, Medland, Sarah E., Olsen, Kristina W., Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Metspalu, Andres, Marjanka K. Schmidt, Milani, Lili, Walters, Robin G., Milne, Roger L., Montgomery, Grant W., Mook-Kanamori, Dennis O., Stefansson, Kari, Mulas, Antonella, Mulligan, Anna M., Murray, Alison, Nalls, Mike A., Newman, Anne, Schoemaker, Minouk J., Noordam, Raymond, Nutile, Teresa, Terao, Chikashi, Nyholt, Dale R., Chang-Claude, Jenny, Olshan, Andrew F., Olsson, Håkan, Painter, Jodie N., Patel, Alpa V., Pedersen, Nancy L., Perjakova, Natalia, Schraut, Katharina E., Peters, Annette, Peters, Ulrike, Pharoah, Paul D. P., Schouw, Yvonne T. van der, Turon, Sandra, Polasek, Ozren, Porcu, Eleonora, Psaty, Bruce M., Rahman, Iffat, Rennert, Gad, Rennert, Hedy S., Scott, Christopher, Ridker, Paul M., Ring, Susan M., John, Esther M., Robino, Antonietta, Rose, Lynda M., Horikoshi, Momoko, Rosendaal, Frits R., Shekari, Saleh, Shrikhande, Amruta, Smith, Albert V., Smith, Blair H., Hopper, John L., Onland-Moret, N. Charlotte, Rossouw, Jacques, Smith, Jennifer A., Sorice, Rossella, Southey, Melissa C., Spector, Tim D., Spinelli, John J., Stampfer, Meir, Stöckl, Doris, Meurs, Joyce B. J. van, Strauch, Konstantin, Hottenga, Jouke J., Lunetta, Kathryn L., Styrkarsdottir, Unnur, Sankar, Aditya, Swerdlow, Anthony J., Tanaka, Toshiko, Teras, Lauren R., Teumer, Alexander, Þorsteinsdottir, Unnur, Timpson, Nicholas J., Toniolo, Daniela, Traglia, Michela, Chasman, Daniel I., Hu, Frank, Troester, Melissa A., Truong, Thérèse, Thrane Hertz, Emil Peter, Tyrrell, Jessica, Uitterlinden, André G., Ulivi, Sheila, Vachon, Celine M., Vitart, Veronique, Völker, Uwe, Easton, Douglas F., Vollenweider, Peter, Hunter, David, Völzke, Henry, Wang, Qin, Wareham, Nicholas J., Timshel, Pascal N., Weinberg, Clarice R., Weir, David R., Amber N. Wilcox, Dijk, Ko Willems van, Visser, Jenny A., Willemsen, Gonneke, Wilson, James F., Ikram, Mohammad A., Wolffenbuttel, Bruce H. R., Wolk, Alicja, Wood, Andrew R., Zhao, Wei, Shukla, Vallari, Zygmunt, Marek, Biobank-based Integrative Omics Study (BIOS) Consortium, Ozanne, Susan E., eQTLGen Consortium, The Biobank Japan Project, China Kadoorie Biobank Collaborative Group, Jackson, Rebecca D., KConFab Investigators, The LifeLines Cohort Study, The InterAct consortium, Me Research Team, Chen, Zhengming, Borup, Rehannah, Namekawa, Satoshi H., Li, Liming, Franke, Lude, Burgess, Stephen, Deelen, Patrick, Joaquim, Micaella D. R., Pers, Tune H., Solc, Petr, Aguilera, Paula, Murabito, Joanne M., Ong, Ken K., Rudan, Igor, Joshi, Peter K., Hoffmann, Eva R., Murray, Anna, Roig, Ignasi, Perry, John R. B., Ferrer-Roda, Mònica, Huang, Yan, Stankovic, Stasa, Timmers, Paul R. H. J., Ahearn, Thomas U., Rueedi, Rico, Alizadeh, Behrooz Z., Fontanillas, Pierre, Naderi, Elnaz, Andrulis, Irene L., Arnold, Alice M., Aronson, Kristan J., Augustinsson, Annelie, Bandinelli, Stefania, Barbieri, Caterina M., Beaumont, Robin N., Ruggiero, Daniela, Becher, Heiko, Beckmann, Matthias W., Karasik, David, Benonisdottir, Stefania, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E., Bolla, Manjeet K., Boomsma, Dorret I., Sala, Cinzia F., Bowker, Nicholas, Brody, Jennifer A., Broer, Linda, Kardia, Sharon L. R., Buring, Julie E., Campbell, Archie, Campbell, Harry, Castelao, Jose E., Catamo, Eulalia, Chanock, Stephen J., Saloustros, Emmanouil, Chenevix-Trench, Georgia, Ciullo, Marina, Corre, Tanguy, Couch, Fergus J., Kartsonaki, Christiana, Cox, Angela, Crisponi, Laura, Cross, Simon S., Cucca, Francesco, Czene, Kamila, Sandler, Dale P., Smith, George Davey, Geus, Eco J. C. de, Mutsert, Renée de, De Vivo, Immaculata, Demerath, Ellen W., Karlsson, Robert, Dennis, Joe, Dunning, Alison M., Dwek, Miriam, Eriksson, Mikael, Sanna, Serena, and Esko, Tonu
Abstract: Reproductive longevity is essential for fertility and influences healthy ageing in women, but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at natural menopause (ANM) in about 200,000 women of European ancestry. These common alleles were associated with clinical extremes of ANM; women in the top 1% of genetic susceptibility have an equivalent risk of premature ovarian insufficiency to those carrying monogenic FMR1 premutations. The identified loci implicate a broad range of DNA damage response (DDR) processes and include loss-of-function variants in key DDR-associated genes. Integration with experimental models demonstrates that these DDR processes act across the life-course to shape the ovarian reserve and its rate of depletion. Furthermore, we demonstrate that experimental manipulation of DDR pathways highlighted by human genetics increases fertility and extends reproductive life in mice. Causal inference analyses using the identified genetic variants indicate that extending reproductive life in women improves bone health and reduces risk of type 2 diabetes, but increases the risk of hormone-sensitive cancers. These findings provide insight into the mechanisms that govern ovarian ageing, when they act, and how they might be targeted by therapeutic approaches to extend fertility and prevent disease.
Published: 2021

7. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Author: Feng, Helian, Gusev, Alexander, Pasaniuc, Bogdan, Wu, Lang, Long, Jirong, Abu-Full, Zomoroda, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auer, Paul L, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Białkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brüning, Thomas, Burwinkel, Barbara, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canisius, Sander, Campa, Daniele, Carter, Brian D, Carter, Jonathan, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC study Collaborators, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, De Leeneer, Kim, Dennis, Joe, Devilee, Peter, Diez, Orland, Domchek, Susan M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hake, Christopher, He, Wei, Heyworth, Jane, Hogervorst, Frans BL, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Imyanitov, Evgeny N, ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators, Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jankowitz, Rachel C, John, Esther M, Johnson, Nichola, Joseph, Vijai, Jung, Audrey, Karlan, Beth Y, Khusnutdinova, Elza, Kiiski, Johanna I, Konstantopoulou, Irene, Kristensen, Vessela N, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Leroux, Dominique, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindor, Noralane, Lindström, Sara, Lo, Wing-Yee, Loud, Jennifer T, Lubiński, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John WM, Martinez, Maria E, Matricardi, Laura, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Kapoor, Pooja M, Miller, Austin, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Osorio, Ana, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T, Pedersen, Inge S, Peixoto, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul DP, Phillips, Kelly-Anne, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Pradhan, Nisha, Prajzendanc, Karolina, Presneau, Nadege, Punie, Kevin, Pylkäs, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Risch, Harvey A, Robson, Mark, Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P, Santos, Catarina, Sawyer, Elinor J, Schmidt, Marjanka K, Schmidt, Daniel F, Schmutzler, Rita K, Schoemaker, Minouk J, Scott, Rodney J, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stone, Jennifer, Swerdlow, Anthony J, Tapper, William J, Taylor, Jack A, Teixeira, Manuel R, Terry, Mary Beth, Teulé, Alex, Thomassen, Mads, Thöne, Kathrin, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob AEM, Torres, Diana, Truong, Thérèse, Tung, Nadine, Vachon, Celine M, van Asperen, Christi J, van den Ouweland, Ans MW, van Rensburg, Elizabeth J, Vega, Ana, Viel, Alessandra, Vieiro-Balo, Paula, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Ziogas, Argyrios, Milne, Roger L, Easton, Douglas F, Chenevix-Trench, Georgia, Zheng, Wei, Kraft, Peter, Jiang, Xia, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, Antoniou, Antonis [0000-0001-9223-3116], Barnes, Daniel [0000-0002-3781-7570], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Leslie, Goska [0000-0001-5756-6222], Pharoah, Paul [0000-0001-8494-732X], Tischkowitz, Marc [0000-0002-7880-0628], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Medical Oncology, Clinical Genetics, Medicum, Research Programs Unit, Genome-Scale Biology (GSB) Research Program, HUSLAB, Department of Medical and Clinical Genetics, Helsinki University Hospital Area, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Biosciences, Institut Català de la Salut, [Feng H] Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts. Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts. Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts. [Gusev A] Dana‐Farber Cancer Institute, Boston, Massachusetts. [Pasaniuc B] UCLA Path & Lab Med, Los Angeles, California. [Wu L] Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii. [Long J] Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt‐Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee. [Abu-full Z] Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel. [Balmaña J] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Diez O] Hereditary Cancer Genetics Group, Area of Clinical and Molecular Genetics, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d'Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
Subjects: Oncology, Epidemiology, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Vesicular Transport Proteins, Estrogen receptor, Genome-wide association study, VARIANTS, Transcriptome, Breast cancer, Brjóstakrabbamein, Receptors, Medicine and Health Sciences, GWAS, skin and connective tissue diseases, Estrogen Receptor Status, Genetics (clinical), Genetics & Heredity, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], 0303 health sciences, Gen, 030305 genetics & heredity, 1184 Genetics, developmental biology, physiology, Causal gene, Genomics, CARRIERS, STATISTICS, 3. Good health, Receptors, Estrogen, breast cancer subtype, causal gene, TWAS, Breast Neoplasms, Estrogens, Female, Genetic Predisposition to Disease, Humans, Risk Assessment, Genome-Wide Association Study, Medical genetics, Breast Cancer Genetics, Erfðarannsóknir, Life Sciences & Biomedicine, EXPRESSION, medicine.medical_specialty, SUSCEPTIBILITY LOCI, 3122 Cancers, Estrògens, Biology, Article, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, Krabbameinsrannsóknir, medicine, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], 030304 developmental biology, Genetic association, Science & Technology, IDENTIFICATION, medicine.disease, Estrogen, TISSUE, Breast cancer subtype, Mama - Càncer - Aspectes genètics, Mathematical & Computational Biology
Abstract: Publisher's version (útgefin grein), Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER−). We further compared associations with ER+ and ER− subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER– breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER− breast cancer., The authors thank the Cellex Foundation for providing research facilities and equipment. The breast cancer genome‐wide association (BCAC) is funded by Cancer Research UK (C1287/A16563, C1287/A10118), the European Union's Horizon 2020 Research and Innovation Programme (grant nos. 634935 and 633784 for BRIDGES and B‐CAST, respectively), and by the European Community's Seventh Framework Programme under grant agreement number 223175 (grant no. HEALTH‐F2‐2009‐223175) (COGS). The EU Horizon 2020 Research and Innovation Programme funding source had no role in study design, data collection, data analysis, data interpretation or writing of the report. Genotyping of the OncoArray was funded by the NIH grant U19 CA148065, and Cancer UK grant C1287/A16563 and the PERSPECTIVE project supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research (grant GPH‐129344), and the Ministère de l’Économie, Science et Innovation du Québec through Genome Québec and the PSRSIIRI‐701 grant, and the Quebec Breast Cancer Foundation. Funding for the iCOGS infrastructure came from: the European Community's Seventh Framework Programme under grant agreement no. 223175 (HEALTH‐F2‐2009‐223175; COGS), Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, and C8197/A16565), the National Institutes of Health (CA128978) and Post‐Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065, and 1U19 CA148112—the GAME‐ON initiative), the Department of Defence (W81XWH‐10‐1‐0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, and Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. The DRIVE Consortium was funded by U19 CA148065. The Australian Breast Cancer Family Study (ABCFS) was supported by grant UM1 CA164920 from the National Cancer Institute (USA). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The ABCFS was also supported by the National Health and Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia) and the Victorian Breast Cancer Research Consortium. J. L. H. is a National Health and Medical Research Council (NHMRC) Senior Principal Research Fellow. M. C. S. is an NHMRC Senior Research Fellow. The ABCS study was supported by the Dutch Cancer Society (grants NKI 2007‐3839; 2009 4363). The Australian Breast Cancer Tissue Bank (ABCTB) is generously supported by the National Health and Medical Research Council of Australia, The Cancer Institute NSW and the National Breast Cancer Foundation. The ACP study is funded by the Breast Cancer Research Trust, UK. The AHS study is supported by the intramural research program of the National Institutes of Health, the National Cancer Institute (grant no. Z01‐CP010119), and the National Institute of Environmental Health Sciences (grant no. Z01‐ES049030). The work of the BBCC was partly funded by ELAN‐Fond of the University Hospital of Erlangen. The BBCS is funded by Cancer Research UK and Breast Cancer Now and acknowledges NHS funding to the NIHR Biomedical Research Centre, and the National Cancer Research Network (NCRN). The BCEES was funded by the National Health and Medical Research Council, Australia and the Cancer Council Western Australia and acknowledges funding from the National Breast Cancer Foundation (JS). For the BCFR‐NY, BCFR‐PA, BCFR‐UT this work was supported by grant UM1 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the BCFR. For BIGGS, E. S. is supported by NIHR Comprehensive Biomedical Research Centre, Guy's and St. Thomas' NHS Foundation Trust in partnership with King's College London, United Kingdom. I. T. is supported by the Oxford Biomedical Research Centre. B. O. C. S. is supported by funds from Cancer Research UK (C8620/A8372/A15106) and the Institute of Cancer Research (UK). B. O. C. S. acknowledges NHS funding to the Royal Marsden/Institute of Cancer Research NIHR Specialist Cancer Biomedical Research Centre. The BREast Oncology GAlician Network (BREOGAN) is funded by Acción Estratégica de Salud del Instituto de Salud Carlos III FIS PI12/02125/Cofinanciado FEDER; Acción Estratégica de Salud del Instituto de Salud Carlos III FIS Intrasalud (PI13/01136); Programa Grupos Emergentes, Cancer Genetics Unit, Instituto de Investigacion Biomedica Galicia Sur. Xerencia de Xestion Integrada de Vigo‐SERGAS, Instituto de Salud Carlos III, Spain; Grant 10CSA012E, Consellería de Industria Programa Sectorial de Investigación Aplicada, PEME I + D e I + D Suma del Plan Gallego de Investigación, Desarrollo e Innovación Tecnológica de la Consellería de Industria de la Xunta de Galicia, Spain (grant EC11‐192). Fomento de la Investigación Clínica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain; and Grant FEDER‐Innterconecta. Ministerio de Economia y Competitividad, Xunta de Galicia, Spain. The BSUCH study was supported by the Dietmar‐Hopp Foundation, the Helmholtz Society and the German Cancer Research Center (DKFZ). The CAMA study was funded by Consejo Nacional de Ciencia y Tecnología (CONACyT; SALUD‐2002‐C01‐7462). Sample collection and processing were funded in part by grants from the National Cancer Institute (NCI R01CA120120 and K24CA169004). C. B. C. S. is funded by the Canadian Cancer Society (grant no. 313404) and the Canadian Institutes of Health Research. C. C. G. P. is supported by funding from the University of Crete. The CECILE study was supported by Fondation de France, Institut National du Cancer (INCa), Ligue Nationale Contre le Cancer, Agence Nationale de Sécurité Sanitaire, de l'Alimentation, de l'Environnement et du Travail (ANSES), Agence Nationale de la Recherche (ANR). The CGPS was supported by the Chief Physician Johan Boserup and Lise Boserup Fund, the Danish Medical Research Council, and Herlev and Gentofte Hospital. The CNIO‐BCS was supported by the Instituto de Salud Carlos III, the Red Temática de Investigación Cooperativa en Cáncer and grants from the Asociación Española Contra el Cáncer and the Fondo de Investigación Sanitario (PI11/00923 and PI12/00070). COLBCCC is supported by the German Cancer Research Center (DKFZ), Heidelberg, Germany. Diana Torres was in part supported by a postdoctoral fellowship from the Alexander von Humboldt Foundation. The American Cancer Society funds the creation, maintenance, and updating of the CPS‐II cohort. The CTS was initially supported by the California Breast Cancer Act of 1993 and the California Breast Cancer Research Fund (contract 97‐10500) and is currently funded through the National Institutes of Health (R01 CA77398, UM1 CA164917, and U01 CA199277). The collection of cancer incidence data was supported by the California Department of Public Health as part of the statewide cancer reporting program mandated by California Health and Safety Code Section 103885. HAC receives support from the Lon V Smith Foundation (LVS39420). The University of Westminster curates the DietCompLyf database funded by Against Breast Cancer Registered Charity No. 1121258 and the NCRN. The coordination of EPIC is financially supported by the European Commission (DG‐SANCO) and the International Agency for Research on Cancer. The national cohorts are supported by Ligue Contre le Cancer, Institut Gustave Roussy, Mutuelle Générale de l'Education Nationale, Institut National de la Santé et de la Recherche Médicale (INSERM) (France); German Cancer Aid, German Cancer Research Center (DKFZ), Federal Ministry of Education and Research (BMBF) (Germany); the Hellenic Health Foundation, the Stavros Niarchos Foundation (Greece); Associazione Italiana per la Ricerca sul Cancro‐AIRC‐Italy and National Research Council (Italy); Dutch Ministry of Public Health, Welfare and Sports (VWS), Netherlands Cancer Registry (NKR), LK Research Funds, Dutch Prevention Funds, Dutch ZON (Zorg Onderzoek Nederland), World Cancer Research Fund (WCRF), Statistics Netherlands (The Netherlands); Health Research Fund (FIS), PI13/00061 to Granada, PI13/01162 to EPIC‐Murcia, Regional Governments of Andalucía, Asturias, Basque Country, Murcia and Navarra, ISCIII RETIC (RD06/0020) (Spain); Cancer Research UK (14136 to EPIC‐Norfolk; C570/A16491 and C8221/A19170 to EPIC‐Oxford), Medical Research Council (1000143 to EPIC‐Norfolk, MR/M012190/1 to EPIC‐Oxford) (United Kingdom). The ESTHER study was supported by a grant from the Baden Württemberg Ministry of Science, Research and Arts. Additional cases were recruited in the context of the VERDI study, which was supported by a grant from the German Cancer Aid (Deutsche Krebshilfe). FHRISK is funded from NIHR grant PGfAR 0707‐10031. The GC‐HBOC (German Consortium of Hereditary Breast and Ovarian Cancer) is supported by the German Cancer Aid (grant no 110837, coordinator: Rita K. Schmutzler, Cologne). This work was also funded by the European Regional Development Fund and Free State of Saxony, Germany (LIFE—Leipzig Research Centre for Civilization Diseases, project numbers 713‐241202, 713‐241202, 14505/2470, 14575/2470). The GENICA was funded by the Federal Ministry of Education and Research (BMBF) Germany grants 01KW9975/5, 01KW9976/8, 01KW9977/0 and 01KW0114, the Robert Bosch Foundation, Stuttgart, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, the Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, as well as the Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany. The GEPARSIXTO study was conducted by the German Breast Group GmbH. The GESBC was supported by the Deutsche Krebshilfe e. V. (70492) and the German Cancer Research Center (DKFZ). GLACIER was supported by Breast Cancer Now, CRUK and Biomedical Research Centre at Guy's and St Thomas’ NHS Foundation Trust and King's College London. The HABCS study was supported by the Claudia von Schilling Foundation for Breast Cancer Research, by the Lower Saxonian Cancer Society, and by the Rudolf Bartling Foundation. The HEBCS was financially supported by the Helsinki University Hospital Research Fund, the Finnish Cancer Society, and the Sigrid Juselius Foundation. The HERPACC was supported by MEXT Kakenhi (No. 170150181 and 26253041) from the Ministry of Education, Science, Sports, Culture and Technology of Japan, by a Grant‐in‐Aid for the Third Term Comprehensive 10‐Year Strategy for Cancer Control from Ministry Health, Labour and Welfare of Japan, by Health and Labour Sciences Research Grants for Research on Applying Health Technology from Ministry Health, Labour and Welfare of Japan, by National Cancer Center Research and Development Fund, and “Practical Research for Innovative Cancer Control (15ck0106177h0001)” from Japan Agency for Medical Research and development, AMED, and Cancer Bio Bank Aichi. The HMBCS was supported by a grant from the Friends of Hannover Medical School and by the Rudolf Bartling Foundation. The HUBCS was supported by a grant from the German Federal Ministry of Research and Education (RUS08/017) and by the Russian Foundation for Basic Research and the Federal Agency for Scientific Organizations for supporting the Bioresource collections and RFBR grants 14‐04‐97088, 17‐29‐06014, and 17‐44‐020498. ICICLE was supported by Breast Cancer Now, CRUK and Biomedical Research Centre at Guy's and St Thomas’ NHS Foundation Trust and King's College London. Financial support for KARBAC was provided through the regional agreement on medical training and clinical research (ALF) between Stockholm County Council and Karolinska Institutet, the Swedish Cancer Society, The Gustav V Jubilee foundation and Bert von Kantzows foundation. The KARMA study was supported by Märit and Hans Rausings Initiative Against Breast Cancer. The KBCP was financially supported by the special Government Funding (EVO) of Kuopio University Hospital grants, Cancer Fund of North Savo, the Finnish Cancer Organizations, and the strategic funding of the University of Eastern Finland. The kConFab Follow‐Up Study is supported by grants from Cancer Australia, the Australian National Breast Cancer Foundation, the National Health and Medical Research Council, the National Institute of Health USA, the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. KAP is an Australian National Breast Cancer Foundation Practitioner Fellow. Financial support for the AOCS was provided by the United States Army Medical Research and Materiel Command (DAMD17‐01‐1‐0729), Cancer Council Victoria, Queensland Cancer Fund, Cancer Council New South Wales, Cancer Council South Australia, The Cancer Foundation of Western Australia, Cancer Council Tasmania and the National Health and Medical Research Council of Australia (NHMRC; 400413, 400281, and 199600). G. C. T. and P. W. are supported by the NHMRC. R. B. was a Cancer Institute NSW Clinical Research Fellow. The KOHBRA study was partially supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), and the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea (HI16C1127; 1020350; 1420190). L. A. A. B. C. is supported by grants (1RB‐0287, 3PB‐0102, 5PB‐0018, and 10PB‐0098) from the California Breast Cancer Research Program. Incident breast cancer cases were collected by the USC Cancer Surveillance Program (CSP) which is supported under subcontract by the California Department of Health. The CSP is also part of the National Cancer Institute's Division of Cancer Prevention and Control Surveillance, Epidemiology, and End Results Program, under contract number N01CN25403. L. M. B. C. is supported by the “Stichting tegen Kanker.” D. L. is supported by the FWO. The MABCS study is funded by the Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov” and supported by the German Academic Exchange Program, DAAD. The MARIE study was supported by the Deutsche Krebshilfe e.V. (70‐2892‐BR I, 106332, 108253, 108419, 110826, 110828), the Hamburg Cancer Society, the German Cancer Research Center (DKFZ) and the Federal Ministry of Education and Research (BMBF) Germany (01KH0402). MBCSG is supported by grants from the Italian Association for Cancer Research (AIRC) and by funds from the Italian citizens who allocated the 5/1,000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT‐Institutional strategic projects “5 × 1,000”). The MCBCS was supported by the NIH grants CA192393, CA116167, CA176785, and NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), and the Breast Cancer Research Foundation and a generous gift from the David F. and Margaret T. Grohne Family Foundation. The Melbourne Collaborative Cohort Study (MCCS) cohort recruitment was funded by VicHealth and Cancer Council Victoria. The MCCS was further augmented by Australian National Health and Medical Research Council grants 209057, 396414, and 1074383 and by infrastructure provided by Cancer Council Victoria. Cases and their vital status were ascertained through the Victorian Cancer Registry and the Australian Institute of Health and Welfare, including the National Death Index and the Australian Cancer Database.” The MEC was supported by NIH grants CA63464, CA54281, CA098758, CA132839, and CA164973. The MISS study is supported by funding from ERC‐2011‐294576 Advanced grant, Swedish Cancer Society, Swedish Research Council, Local hospital funds, Berta Kamprad Foundation, Gunnar Nilsson. The MMHS study was supported by NIH grants CA97396, CA128931, CA116201, CA140286, and CA177150. M. S. K. C. C. is supported by grants from the Breast Cancer Research Foundation and Robert and Kate Niehaus Clinical Cancer Genetics Initiative. The work of MTLGEBCS was supported by the Quebec Breast Cancer Foundation, the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program—grant no. CRN‐87521 and the Ministry of Economic Development, Innovation and Export Trade—grant no. PSR‐SIIRI‐701. MYBRCA is funded by research grants from the Malaysian Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Malaysia. MYMAMMO is supported by research grants from Yayasan Sime Darby LPGA Tournament and Malaysian Ministry of Higher Education (RP046B‐15HTM). The NBCS has been supported by the Research Council of Norway grant 193387/V50 (to A.‐L. B.‐D. and V. N. K.) and grant 193387/H10 (to A.‐L. B.‐D. and V. N. K.), South‐Eastern Norway Health Authority (grant 39346 to A.‐L.B‐D. and 27208 to V. N. K.) and the Norwegian Cancer Society (to A.‐L. B.‐D. and 419616‐71248‐PR‐2006‐0282 to V. N. K.). It has received funding from the K.G. Jebsen Centre for Breast Cancer Research (2012‐2015). The NBHS was supported by NIH grant R01CA100374. Biological sample preparation was conducted the Survey and Biospecimen Shared Resource, which is supported by P30 CA68485. The Northern California Breast Cancer Family Registry (NC‐BCFR) and Ontario Familial Breast Cancer Registry (OFBCR) were supported by grant UM1 CA164920 from the National Cancer Institute (USA). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The Carolina Breast Cancer Study was funded by Komen Foundation, the National Cancer Institute (P50 CA058223, U54 CA156733, and U01 CA179715), and the North Carolina University Cancer Research Fund. The NGOBCS was supported by Grants‐in‐Aid for the Third Term Comprehensive Ten‐Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, and for Scientific Research on Priority Areas, 17015049 and for Scientific Research on Innovative Areas, 221S0001, from the Ministry of Education, Culture, Sports, Science, and Technology of Japan. The NHS was supported by NIH grants P01 CA87969, UM1 CA186107, and U19 CA148065. The NHS2 was supported by NIH grants UM1 CA176726 and U19 CA148065. The OBCS was supported by research grants from the Finnish Cancer Foundation, the Academy of Finland (grant no. 250083, 122715 and Center of Excellence grant no. 251314), the Finnish Cancer Foundation, the Sigrid Juselius Foundation, the University of Oulu, the University of Oulu Support Foundation and the special Governmental EVO funds for Oulu University Hospital‐based research activities. The ORIGO study was supported by the Dutch Cancer Society (RUL 1997‐1505) and the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI‐NL CP16). The PBCS was funded by Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. Genotyping for PLCO was supported by the Intramural Research Program of the National Institutes of Health, NCI, Division of Cancer Epidemiology and Genetics. The PLCO is supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics and supported by contracts from the Division of Cancer Prevention, National Cancer Institute, National Institutes of Health. The POSH study is funded by Cancer Research UK (grants C1275/A11699, C1275/C22524, C1275/A19187, C1275/A15956, and Breast Cancer Campaign 2010PR62, 2013PR044. PROCAS is funded from NIHR grant PGfAR 0707‐10031. The RBCS was funded by the Dutch Cancer Society (DDHK 2004‐3124, DDHK 2009‐4318). The SASBAC study was supported by funding from the Agency for Science, Technology, and Research of Singapore (A*STAR), the US National Institute of Health (NIH) and the Susan G. Komen Breast Cancer Foundation. The SBCGS was supported primarily by NIH grants R01CA64277, R01CA148667, UMCA182910, and R37CA70867. Biological sample preparation was conducted the Survey and Biospecimen Shared Resource, which is supported by P30 CA68485. The scientific development and funding of this project were, in part, supported by the Genetic Associations and Mechanisms in Oncology (GAME‐ON) Network U19 CA148065. The SBCS was supported by Sheffield Experimental Cancer Medicine Centre and Breast Cancer Now Tissue Bank. The SCCS is supported by a grant from the National Institutes of Health (R01 CA092447). Data on SCCS cancer cases used in this publication were provided by the Alabama Statewide Cancer Registry; Kentucky Cancer Registry, Lexington, KY; Tennessee Department of Health, Office of Cancer Surveillance; Florida Cancer Data System; North Carolina Central Cancer Registry, North Carolina Division of Public Health; Georgia Comprehensive Cancer Registry; Louisiana Tumor Registry; Mississippi Cancer Registry; South Carolina Central Cancer Registry; Virginia Department of Health, Virginia Cancer Registry; Arkansas Department of Health, Cancer Registry, 4815 W. Markham, Little Rock, AR 72205. The Arkansas Central Cancer Registry is fully funded by a grant from the National Program of Cancer Registries, Centers for Disease Control and Prevention (CDC). Data on SCCS cancer cases from Mississippi were collected by the Mississippi Cancer Registry which participates in the National Program of Cancer Registries (NPCR) of the Centers for Disease Control and Prevention (CDC). The contents of this publication are solely the responsibility of the authors and do not necessarily represent the official views of the CDC or the Mississippi Cancer Registry. SEARCH is funded by Cancer Research UK (C490/A10124 and C490/A16561) and supported by the UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge. The University of Cambridge has received salary support for PDPP from the NHS in the East of England through the Clinical Academic Reserve. SEBCS was supported by the BRL (Basic Research Laboratory) program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology (2012‐0000347). SGBCC is funded by the NUS start‐up Grant, National University Cancer Institute Singapore (NCIS) Centre Grant and the NMRC Clinician Scientist Award. Additional controls were recruited by the Singapore Consortium of Cohort Studies‐Multi‐ethnic cohort (SCCS‐MEC), which was funded by the Biomedical Research Council, grant no. 05/1/21/19/425. The Sister Study (SISTER) is supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (Z01‐ES044005 and Z01‐ES049033). The Two Sister Study (2SISTER) was supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (Z01‐ES044005 and Z01‐ES102245), and, also by a grant from Susan G. Komen for the Cure, grant FAS0703856. SKKDKFZS is supported by the DKFZ. The SMC is funded by the Swedish Cancer Foundation. The SZBCS and IHCC were supported by Grant PBZ_KBN_122/P05/2004 and the program of the Minister of Science and Higher Education under the name “Regional Initiative of Excellence” in 2019–2022 project number 002/RID/2018/19 amount of financing 12,000,000 PLN. The TBCS was funded by The National Cancer Institute of Thailand. The TNBCC was supported by a Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a grant from the Breast Cancer Research Foundation, a generous gift from the David F. and Margaret T. Grohne Family Foundation. The TWBCS is supported by the Taiwan Biobank project of the Institute of Biomedical Sciences, Academia Sinica, Taiwan. The UCIBCS component of this research was supported by the NIH (CA58860 and CA92044) and the Lon V Smith Foundation (LVS39420). The UKBGS is funded by Breast Cancer Now and the Institute of Cancer Research (ICR), London and also thank the study participants, study staff, and the doctors, nurses and other health care providers and health information sources who have contributed to the study. ICR acknowledges NHS funding to the NIHR Biomedical Research Centre. The UKOPS study was funded by The Eve Appeal (The Oak Foundation) and supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. The US3SS study was supported by Massachusetts (K. M. E., R01CA47305), Wisconsin (P. A. N., R01 CA47147), and New Hampshire (L. T.‐E., R01CA69664) centers, and Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. The USRT Study was funded by Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. The WAABCS study was supported by grants from the National Cancer Institute of the National Institutes of Health (R01 CA89085 and P50 CA125183 and the D43 TW009112 grant), Susan G. Komen (SAC110026), Dr. Ralph and Marian Falk Medical Research Trust, and the Avon Foundation for Women. The WHI program is funded by the National Heart, Lung, and Blood Institute, the US National Institutes of Health and the US Department of Health and Human Services (HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, and HHSN271201100004C). This work was also funded by NCI U19 CA148065‐01. D. G. E. is supported by the all Manchester NIHR Biomedical research center Manchester (IS‐BRC‐1215‐20007). HUNBOCS, Hungarian Breast, and Ovarian Cancer Study were supported by Hungarian Research Grant KTIA‐OTKA CK‐80745, NKFI_OTKA K‐112228. C. I. received support from the Survey, Recruitment, and Biospecimen Shared Resource at Georgetown University (NIH/NCI P30‐CA‐51008) and the Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research. K. M. is supported by CRUK C18281/A19169. City of Hope Clinical Cancer Community Research Network and the Hereditary Cancer Research Registry, supported in part by Award Number RC4CA153828 (PI: J Weitzel) from the National Cancer Institute and the office of the Director, National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The ICO study is supported by the Asociación Española Contra el Cáncer (AECC), The Instituto de Salud Carlos III (organismo adscrito al Ministerio de Economía y Competitividad) and “Fondo Europeo de Desarrollo Regional (FEDER), una manera de hacer Europa” (PI10/01422, PI13/00285, PIE13/00022, PI15/00854, PI16/00563, and CIBERONC) and The Institut Català de la Salut and Autonomous Government of Catalonia (2009SGR290, 2014SGR338 and PERIS Project MedPerCan). Dr. Beth Karlan is funded by the American Cancer Society Early Detection Professorship (SIOP‐06‐258‐01‐COUN) and the National Center for Advancing Translational Sciences (NCATS), grant UL1TR000124. A.V. is supported by the Spanish Health Research Foundation, Instituto de Salud Carlos III (ISCIII), partially supported by FEDER funds through Research Activity Intensification Program (contract grant nos. INT15/00070, INT16/00154, INT17/00133), and through Centro de Investigación Biomédica en Red de Enferemdades Raras CIBERER (ACCI 2016: ER17P1AC7112/2018); Autonomous Government of Galicia (Consolidation and structuring program: IN607B), and by the Fundación Mutua Madrileña (call 2018). The GEMO resource was initially funded by the French National Institute of Cancer (INCa, PHRC Ile de France, grant AOR 01 082, 2001–2003, grant 2013‐1‐BCB‐01‐ICH‐1), the Association “Le cancer du sein, parlons‐en!” Award (2004) the Association for International Cancer Research (2008–2010), and the Fondation ARC pour la recherche sur le cancer (grant PJA 20151203365). It also received support from the Canadian Institute of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program (2008–2013), and the European commission FP7, Project «Collaborative Ovarian, breast and prostate Gene‐environment Study (COGS), Large‐scale integrating project» (2009–2013). G. E. M. O. is currently supported by the INCa grant SHS‐E‐SP 18‐015. OSUCCC was funded by the Ohio State University Comprehensive Cancer Center. Leigha Senter, Kevin Sweet, Caroline Craven, Julia Cooper, Amber Aielts, and Michelle O'Conor aided in the recruitment of BRCA1/2 study participants and data collection. Robert Pilarski aided in recruitment and data collection of TNBC cases from the Stefanie Spielman Breast Bank. Clinical Genetics Branch, NCI: the Intramural Research Program of the US National Cancer Institute, NIH, Division of Cancer Epidemiology and Genetics, and by support services contracts NO2‐CP‐11019‐50, N02‐CP‐21013‐63 and N02‐CP‐65504 with Westat, Inc, Rockville, MD. ILUH was funded by the Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund. The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) consists of the following Collaborating Centers: Netherlands Cancer Institute (coordinating center), Amsterdam, NL: M.A. Rookus, F.B.L. Hogervorst, F.E. van Leeuwen, M.A. Adank, M.K. Schmidt, D.J. Jenner; Erasmus Medical Center, Rotterdam, NL: J.M. Collée, A.M.W. van den Ouweland, M.J. Hooning, I.A. Boere; Leiden University Medical Center, NL: C.J. van Asperen, P. Devilee, R.B. van der Luijt, T.C.T.E.F. van Cronenburg; Radboud University Nijmegen Medical Center, NL: M.R. Wevers, A.R. Mensenkamp; University Medical Center Utrecht, NL: M.G.E.M. Ausems, M.J. Koudijs; Amsterdam Medical Center, NL: E.J. Meijers‐Heijboer, T.A.M. van Os; VU University Medical Center, Amsterdam, NL: K. van Engelen, J.J.P. Gille; Maastricht University Medical Center, NL: E.B. Gómez‐Garcia, M.J. Blok, M. de Boer; University of Groningen, NL: J.C. Oosterwijk, A.H. van der Hout, M.J.E. Mourits, G.H. de Bock; The Netherlands Comprehensive Cancer Organisation (IKNL): S. Siesling, J. Verloop; The nationwide network and registry of histo‐ and cyto‐pathology in the Netherlands (PALGA): E.C. van den Broek. HEBON thanks the study participants and the registration teams of IKNL and PALGA for part of the data collection. The HEBON study is supported by the Dutch Cancer Society grants NKI1998‐1854, NKI2004‐3088, NKI2007‐3756, the Netherlands Organisation of Scientific Research grant NWO 91109024, the Pink Ribbon grants 110005 and 2014‐187.WO76, the BBMRI grant NWO 184.021.007/CP46, and the Transcan grant JTC 2012 Cancer 12‐054. N.N. Petrov Institute of Oncology is supported by the Russian Foundation for Basic Research (grants 17‐00‐00171, 18‐515‐45012 and 19‐515‐25001).
Published: 2020

8. Impact of multi-gene mutational profiling on clinical trial outcomes in metastatic breast cancer

Author: Pezo, Rossanna C., primary, Chen, Tom W., additional, Berman, Hal K., additional, Mulligan, Anna M., additional, Razak, Albiruni A., additional, Siu, Lillian L., additional, Cescon, David W., additional, Amir, Eitan, additional, Elser, Christine, additional, Warr, David G., additional, Sridhar, Srikala S., additional, Yu, Celeste, additional, Wang, Lisa, additional, Stockley, Tracy L., additional, Kamel-Reid, Suzanne, additional, and Bedard, Philippe L., additional
Published: 2017
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9. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
Published: 2016
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10. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, Antoniou, Antonis C, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, and Antoniou, Antonis C
Published: 2016

11. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: University of Helsinki, Medicum, University of Helsinki, Clinicum, University of Helsinki, Research Programs Unit, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., University of Helsinki, Medicum, University of Helsinki, Clinicum, University of Helsinki, Research Programs Unit, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P
Published: 2016

12. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Epi Kanker Team 1, JC onderzoeksprogramma Kanker, Cancer, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, Antoniou, Antonis C, Epi Kanker Team 1, JC onderzoeksprogramma Kanker, Cancer, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, and Antoniou, Antonis C
Published: 2016

13. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., primary, Kuchenbaecker, Karoline B., additional, Michailidou, Kyriaki, additional, Mendoza-Fandino, Gustavo A., additional, Nord, Silje, additional, Lilyquist, Janna, additional, Olswold, Curtis, additional, Hallberg, Emily, additional, Agata, Simona, additional, Ahsan, Habibul, additional, Aittomäki, Kristiina, additional, Ambrosone, Christine, additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Arndt, Volker, additional, Arun, Banu K., additional, Arver, Brita, additional, Barile, Monica, additional, Barkardottir, Rosa B., additional, Barrowdale, Daniel, additional, Beckmann, Lars, additional, Beckmann, Matthias W., additional, Benitez, Javier, additional, Blank, Stephanie V., additional, Blomqvist, Carl, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Bonanni, Bernardo, additional, Brauch, Hiltrud, additional, Brenner, Hermann, additional, Burwinkel, Barbara, additional, Buys, Saundra S., additional, Caldes, Trinidad, additional, Caligo, Maria A., additional, Canzian, Federico, additional, Carpenter, Jane, additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chung, Wendy K., additional, Claes, Kathleen B. M., additional, Cox, Angela, additional, Cross, Simon S., additional, Cunningham, Julie M., additional, Czene, Kamila, additional, Daly, Mary B., additional, Damiola, Francesca, additional, Darabi, Hatef, additional, de la Hoya, Miguel, additional, Devilee, Peter, additional, Diez, Orland, additional, Ding, Yuan C., additional, Dolcetti, Riccardo, additional, Domchek, Susan M., additional, Dorfling, Cecilia M., additional, dos-Santos-Silva, Isabel, additional, Dumont, Martine, additional, Dunning, Alison M., additional, Eccles, Diana M., additional, Ehrencrona, Hans, additional, Ekici, Arif B., additional, Eliassen, Heather, additional, Ellis, Steve, additional, Fasching, Peter A., additional, Figueroa, Jonine, additional, Flesch-Janys, Dieter, additional, Försti, Asta, additional, Fostira, Florentia, additional, Foulkes, William D., additional, Friebel, Tara, additional, Friedman, Eitan, additional, Frost, Debra, additional, Gabrielson, Marike, additional, Gammon, Marilie D., additional, Ganz, Patricia A., additional, Gapstur, Susan M., additional, Garber, Judy, additional, Gaudet, Mia M., additional, Gayther, Simon A., additional, Gerdes, Anne-Marie, additional, Ghoussaini, Maya, additional, Giles, Graham G., additional, Glendon, Gord, additional, Godwin, Andrew K., additional, Goldberg, Mark S., additional, Goldgar, David E., additional, González-Neira, Anna, additional, Greene, Mark H., additional, Gronwald, Jacek, additional, Guénel, Pascal, additional, Gunter, Marc, additional, Haeberle, Lothar, additional, Haiman, Christopher A., additional, Hamann, Ute, additional, Hansen, Thomas V. O., additional, Hart, Steven, additional, Healey, Sue, additional, Heikkinen, Tuomas, additional, Henderson, Brian E., additional, Herzog, Josef, additional, Hogervorst, Frans B. L., additional, Hollestelle, Antoinette, additional, Hooning, Maartje J., additional, Hoover, Robert N., additional, Hopper, John L., additional, Humphreys, Keith, additional, Hunter, David J., additional, Huzarski, Tomasz, additional, Imyanitov, Evgeny N., additional, Isaacs, Claudine, additional, Jakubowska, Anna, additional, James, Paul, additional, Janavicius, Ramunas, additional, Jensen, Uffe Birk, additional, John, Esther M., additional, Jones, Michael, additional, Kabisch, Maria, additional, Kar, Siddhartha, additional, Karlan, Beth Y., additional, Khan, Sofia, additional, Khaw, Kay-Tee, additional, Kibriya, Muhammad G., additional, Knight, Julia A., additional, Ko, Yon-Dschun, additional, Konstantopoulou, Irene, additional, Kosma, Veli-Matti, additional, Kristensen, Vessela, additional, Kwong, Ava, additional, Laitman, Yael, additional, Lambrechts, Diether, additional, Lazaro, Conxi, additional, Lee, Eunjung, additional, Le Marchand, Loic, additional, Lester, Jenny, additional, Lindblom, Annika, additional, Lindor, Noralane, additional, Lindstrom, Sara, additional, Liu, Jianjun, additional, Long, Jirong, additional, Lubinski, Jan, additional, Mai, Phuong L., additional, Makalic, Enes, additional, Malone, Kathleen E., additional, Mannermaa, Arto, additional, Manoukian, Siranoush, additional, Margolin, Sara, additional, Marme, Frederik, additional, Martens, John W. M., additional, McGuffog, Lesley, additional, Meindl, Alfons, additional, Miller, Austin, additional, Milne, Roger L., additional, Miron, Penelope, additional, Montagna, Marco, additional, Mazoyer, Sylvie, additional, Mulligan, Anna M., additional, Muranen, Taru A., additional, Nathanson, Katherine L., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Nordestgaard, Børge G., additional, Nussbaum, Robert L., additional, Offit, Kenneth, additional, Olah, Edith, additional, Olopade, Olufunmilayo I., additional, Olson, Janet E., additional, Osorio, Ana, additional, Park, Sue K., additional, Peeters, Petra H., additional, Peissel, Bernard, additional, Peterlongo, Paolo, additional, Peto, Julian, additional, Phelan, Catherine M., additional, Pilarski, Robert, additional, Poppe, Bruce, additional, Pylkäs, Katri, additional, Radice, Paolo, additional, Rahman, Nazneen, additional, Rantala, Johanna, additional, Rappaport, Christine, additional, Rennert, Gad, additional, Richardson, Andrea, additional, Robson, Mark, additional, Romieu, Isabelle, additional, Rudolph, Anja, additional, Rutgers, Emiel J., additional, Sanchez, Maria-Jose, additional, Santella, Regina M., additional, Sawyer, Elinor J., additional, Schmidt, Daniel F., additional, Schmidt, Marjanka K., additional, Schmutzler, Rita K., additional, Schumacher, Fredrick, additional, Scott, Rodney, additional, Senter, Leigha, additional, Sharma, Priyanka, additional, Simard, Jacques, additional, Singer, Christian F., additional, Sinilnikova, Olga M., additional, Soucy, Penny, additional, Southey, Melissa, additional, Steinemann, Doris, additional, Stenmark-Askmalm, Marie, additional, Stoppa-Lyonnet, Dominique, additional, Swerdlow, Anthony, additional, Szabo, Csilla I., additional, Tamimi, Rulla, additional, Tapper, William, additional, Teixeira, Manuel R., additional, Teo, Soo-Hwang, additional, Terry, Mary B., additional, Thomassen, Mads, additional, Thompson, Deborah, additional, Tihomirova, Laima, additional, Toland, Amanda E., additional, Tollenaar, Robert A. E. M., additional, Tomlinson, Ian, additional, Truong, Thérèse, additional, Tsimiklis, Helen, additional, Teulé, Alex, additional, Tumino, Rosario, additional, Tung, Nadine, additional, Turnbull, Clare, additional, Ursin, Giski, additional, van Deurzen, Carolien H. M., additional, van Rensburg, Elizabeth J., additional, Varon-Mateeva, Raymonda, additional, Wang, Zhaoming, additional, Wang-Gohrke, Shan, additional, Weiderpass, Elisabete, additional, Weitzel, Jeffrey N., additional, Whittemore, Alice, additional, Wildiers, Hans, additional, Winqvist, Robert, additional, Yang, Xiaohong R., additional, Yannoukakos, Drakoulis, additional, Yao, Song, additional, Zamora, M Pilar, additional, Zheng, Wei, additional, Hall, Per, additional, Kraft, Peter, additional, Vachon, Celine, additional, Slager, Susan, additional, Chenevix-Trench, Georgia, additional, Pharoah, Paul D. P., additional, Monteiro, Alvaro A. N., additional, García-Closas, Montserrat, additional, Easton, Douglas F., additional, and Antoniou, Antonis C., additional
Published: 2016
Full Text: View/download PDF

14. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Author: Spurdle, Amanda B., Couch, Fergus J., Parsons, Michael T., McGuffog, Lesley, Barrowdale, Daniel, Bolla, Manjeet K., Wang, Qin, Healey, Sue, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D. Gareth, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Varesco, Liliana, Balleine, Rosemary, Nathanson, Katherine L., Domchek, Susan M., Offitt, Kenneth, Jakubowska, Anna, Lindor, Noralane, Thomassen, Mads, Jensen, Uffe Birk, Rantala, Johanna, Borg, Ake, Andrulis, Irene L., Miron, Alexander, Hansen, Thomas V. O., Caldes, Trinidad, Neuhausen, Susan L., Toland, Amanda E., Nevanlinna, Heli, Montagna, Marco, Garber, Judy, Godwin, Andrew K., Osorio, Ana, Factor, Rachel E., Terry, Mary B., Rebbeck, Timothy R., Karlan, Beth Y., Southey, Melissa, Rashid, Muhammad Usman, Tung, Nadine, Pharoah, Paul D. P., Blows, Fiona M., Dunning, Alison M., Provenzano, Elena, Hall, Per, Czene, Kamila, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Verhoef, Senno, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Slamon, Dennis J., Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomaki, Kristiina, Muranen, Taru A., Heikkila, Paivi, Blomqvist, Carl, Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Olson, Janet E., Pankratz, Vernon S., John, Esther M., Whittemore, Alice S., West, Dee W., Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rudiger, Thomas, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Eccles, Diana M., Tapper, William J., Durcan, Lorraine, Jones, Louise, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Dwek, Miriam, Swann, Ruth, Bane, Anita L., Glendon, Gord, Mulligan, Anna M., Giles, Graham G., Milne, Roger L., Baglietto, Laura, McLean, Catriona, Carpenter, Jane, Clarke, Christine, Scott, Rodney, Brauch, Hiltrud, Bruning, Thomas, Ko, Yon-Dschun, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Dork, Thilo, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Hillemanns, Peter, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Burwinkel, Barbara, Marme, Frederik, Surovy, Harald, Yang, Rongxi, Anton-Culver, Hoda, Ziogas, Argyrios, Hooning, Maartje J., Collee, J. Margriet, Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volke, Stegmaier, Christa, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Lindblom, Annika, Margolin, Sara, Joseph, Vijai, Robson, Mark, Rau-Murthy, Rohini, Gonzalez-Neira, Anna, Arias, Jose Ignacio, Zamora, Pilar, Benitez, Javier, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Peterlongo, Paolo, Zaffaroni, Daniela, Barile, Monica, Capra, Fabio, Radice, Paolo, Teo, Soo H., Easton, Douglas F., Antoniou, Antonis C., Chenevix-Trench, Georgia, Goldgar, David E., Spurdle, Amanda B., Couch, Fergus J., Parsons, Michael T., McGuffog, Lesley, Barrowdale, Daniel, Bolla, Manjeet K., Wang, Qin, Healey, Sue, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D. Gareth, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Varesco, Liliana, Balleine, Rosemary, Nathanson, Katherine L., Domchek, Susan M., Offitt, Kenneth, Jakubowska, Anna, Lindor, Noralane, Thomassen, Mads, Jensen, Uffe Birk, Rantala, Johanna, Borg, Ake, Andrulis, Irene L., Miron, Alexander, Hansen, Thomas V. O., Caldes, Trinidad, Neuhausen, Susan L., Toland, Amanda E., Nevanlinna, Heli, Montagna, Marco, Garber, Judy, Godwin, Andrew K., Osorio, Ana, Factor, Rachel E., Terry, Mary B., Rebbeck, Timothy R., Karlan, Beth Y., Southey, Melissa, Rashid, Muhammad Usman, Tung, Nadine, Pharoah, Paul D. P., Blows, Fiona M., Dunning, Alison M., Provenzano, Elena, Hall, Per, Czene, Kamila, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Verhoef, Senno, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Slamon, Dennis J., Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomaki, Kristiina, Muranen, Taru A., Heikkila, Paivi, Blomqvist, Carl, Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Olson, Janet E., Pankratz, Vernon S., John, Esther M., Whittemore, Alice S., West, Dee W., Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rudiger, Thomas, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Eccles, Diana M., Tapper, William J., Durcan, Lorraine, Jones, Louise, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Dwek, Miriam, Swann, Ruth, Bane, Anita L., Glendon, Gord, Mulligan, Anna M., Giles, Graham G., Milne, Roger L., Baglietto, Laura, McLean, Catriona, Carpenter, Jane, Clarke, Christine, Scott, Rodney, Brauch, Hiltrud, Bruning, Thomas, Ko, Yon-Dschun, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Dork, Thilo, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Hillemanns, Peter, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Burwinkel, Barbara, Marme, Frederik, Surovy, Harald, Yang, Rongxi, Anton-Culver, Hoda, Ziogas, Argyrios, Hooning, Maartje J., Collee, J. Margriet, Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volke, Stegmaier, Christa, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Lindblom, Annika, Margolin, Sara, Joseph, Vijai, Robson, Mark, Rau-Murthy, Rohini, Gonzalez-Neira, Anna, Arias, Jose Ignacio, Zamora, Pilar, Benitez, Javier, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Peterlongo, Paolo, Zaffaroni, Daniela, Barile, Monica, Capra, Fabio, Radice, Paolo, Teo, Soo H., Easton, Douglas F., Antoniou, Antonis C., Chenevix-Trench, Georgia, and Goldgar, David E.
Abstract: Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of mutation status by histopathological markers were derived using a Mantel-Haenszel approach. Results: ER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3 phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3 features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years or older (LR = 1.79 (1.42 to 2.24)
Published: 2014

15. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Mulligan, Anna M., Durán, Mercedes, Mulligan, Anna M., and Durán, Mercedes
Abstract: [Introduction]: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. [Methods]: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. [Results]: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. [Conclusions]: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific r
Published: 2011

16. Identification of New Genetic Susceptibility Loci for Breast Cancer Through Consideration of Gene‐Environment Interactions

Author: Schoeps, Anja, primary, Rudolph, Anja, additional, Seibold, Petra, additional, Dunning, Alison M., additional, Milne, Roger L., additional, Bojesen, Stig E., additional, Swerdlow, Anthony, additional, Andrulis, Irene, additional, Brenner, Hermann, additional, Behrens, Sabine, additional, Orr, Nicholas, additional, Jones, Michael, additional, Ashworth, Alan, additional, Li, Jingmei, additional, Cramp, Helen, additional, Connley, Dan, additional, Czene, Kamila, additional, Darabi, Hatef, additional, Chanock, Stephen J., additional, Lissowska, Jolanta, additional, Figueroa, Jonine D., additional, Knight, Julia, additional, Glendon, Gord, additional, Mulligan, Anna M., additional, Dumont, Martine, additional, Severi, Gianluca, additional, Baglietto, Laura, additional, Olson, Janet, additional, Vachon, Celine, additional, Purrington, Kristen, additional, Moisse, Matthieu, additional, Neven, Patrick, additional, Wildiers, Hans, additional, Spurdle, Amanda, additional, Kosma, Veli‐Matti, additional, Kataja, Vesa, additional, Hartikainen, Jaana M., additional, Hamann, Ute, additional, Ko, Yon‐Dschun, additional, Dieffenbach, Aida K., additional, Arndt, Volker, additional, Stegmaier, Christa, additional, Malats, Núria, additional, Arias Perez, José I., additional, Benítez, Javier, additional, Flyger, Henrik, additional, Nordestgaard, Børge G., additional, Truong, Thérèse, additional, Cordina‐Duverger, Emilie, additional, Menegaux, Florence, additional, dos Santos Silva, Isabel, additional, Fletcher, Olivia, additional, Johnson, Nichola, additional, Häberle, Lothar, additional, Beckmann, Matthias W., additional, Ekici, Arif B., additional, Braaf, Linde, additional, Atsma, Femke, additional, den Broek, Alexandra J., additional, Makalic, Enes, additional, Schmidt, Daniel F., additional, Southey, Melissa C., additional, Cox, Angela, additional, Simard, Jacques, additional, Giles, Graham G., additional, Lambrechts, Diether, additional, Mannermaa, Arto, additional, Brauch, Hiltrud, additional, Guénel, Pascal, additional, Peto, Julian, additional, Fasching, Peter A., additional, Hopper, John, additional, Flesch‐Janys, Dieter, additional, Couch, Fergus, additional, Chenevix‐Trench, Georgia, additional, Pharoah, Paul D. P., additional, Garcia‐Closas, Montserrat, additional, Schmidt, Marjanka K., additional, Hall, Per, additional, Easton, Douglas F., additional, and Chang‐Claude, Jenny, additional
Published: 2013
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17. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Author: Day, Felix R, Thompson, Deborah J, Helgason, Hannes, Chasman, Daniel I, Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S, Whalen, Sean, Sarkar, Abhishek K, Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, Caterina M, Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J, Karlsson, Robert, Kolcic, Ivana, Loh, Po-Ru, Lunetta, Kathryn L, Mangino, Massimo, Marco, Brumat, McMahon, George, Medland, Sarah E, Nolte, Ilja M, Noordam, Raymond, Nutile, Teresa, Paternoster, Lavinia, Perjakova, Natalia, Porcu, Eleonora, Rose, Lynda M, Schraut, Katharina E, Segrè, Ayellet V, Smith, Albert V, Stolk, Lisette, Teumer, Alexander, Andrulis, Irene L, Bandinelli, Stefania, Beckmann, Matthias W, Benitez, Javier, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E, Bolla, Manjeet K, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Broer, Linda, Brüning, Thomas, Buring, Julie E, Campbell, Harry, Catamo, Eulalia, Chanock, Stephen, Chenevix-Trench, Georgia, Corre, Tanguy, Couch, Fergus J, Cousminer, Diana L, Cox, Angela, Crisponi, Laura, Czene, Kamila, Davey Smith, George, de Geus, Eco J C N, de Mutsert, Renée, De Vivo, Immaculata, Dennis, Joe, Devilee, Peter, dos-Santos-Silva, Isabel, Dunning, Alison M, Eriksson, Johan G, Fasching, Peter A, Fernández-Rhodes, Lindsay, Ferrucci, Luigi, Flesch-Janys, Dieter, Franke, Lude, Gabrielson, Marike, Gandin, Ilaria, Giles, Graham G, Grallert, Harald, Gudbjartsson, Daniel F, Guénel, Pascal, Hall, Per, Hallberg, Emily, Hamann, Ute, Harris, Tamara B, Hartman, Catharina A, Heiss, Gerardo, Hooning, Maartje J, Hopper, John L, Hu, Frank, Hunter, David J, Ikram, M Arfan, Im, Hae Kyung, Järvelin, Marjo-Riitta, Joshi, Peter K, Karasik, David, Kellis, Manolis, Kutalik, Zoltan, LaChance, Genevieve, Lambrechts, Diether, Langenberg, Claudia, Launer, Lenore J, Laven, Joop S E, Lenarduzzi, Stefania, Li, Jingmei, Lind, Penelope A, Lindstrom, Sara, Liu, YongMei, Luan, Jian'an, Mägi, Reedik, Mannermaa, Arto, Mbarek, Hamdi, McCarthy, Mark I, Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Metspalu, Andres, Michailidou, Kyriaki, Milani, Lili, Milne, Roger L, Montgomery, Grant W, Mulligan, Anna M, Nalls, Mike A, Navarro, Pau, Nevanlinna, Heli, Nyholt, Dale R, Oldehinkel, Albertine J, O'Mara, Tracy A, Padmanabhan, Sandosh, Palotie, Aarno, Pedersen, Nancy, Peters, Annette, Peto, Julian, Pharoah, Paul D P, Pouta, Anneli, Radice, Paolo, Rahman, Iffat, Ring, Susan M, Robino, Antonietta, Rosendaal, Frits R, Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Sala, Cinzia F, Schmidt, Marjanka K, Scott, Robert A, Shah, Mitul, Sorice, Rossella, Southey, Melissa C, Sovio, Ulla, Stampfer, Meir, Steri, Maristella, Strauch, Konstantin, Tanaka, Toshiko, Tikkanen, Emmi, Timpson, Nicholas J, Traglia, Michela, Truong, Thérèse, Tyrer, Jonathan P, Uitterlinden, André G, Edwards, Digna R Velez, Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Wang, Qin, Widen, Elisabeth, van Dijk, Ko Willems, Willemsen, Gonneke, Winqvist, Robert, Wolffenbuttel, Bruce H R, Zhao, Jing Hua, Zoledziewska, Magdalena, Zygmunt, Marek, Alizadeh, Behrooz Z, Boomsma, Dorret I, Ciullo, Marina, Cucca, Francesco, Esko, Tõnu, Franceschini, Nora, Gieger, Christian, Gudnason, Vilmundur, Hayward, Caroline, Kraft, Peter, Lawlor, Debbie A, Magnusson, Patrik K E, Martin, Nicholas G, Mook-Kanamori, Dennis O, Nohr, Ellen A, Polasek, Ozren, Porteous, David, Price, Alkes L, Ridker, Paul M, Snieder, Harold, Spector, Tim D, Stöckl, Doris, Toniolo, Daniela, Ulivi, Sheila, Visser, Jenny A, Völzke, Henry, Wareham, Nicholas J, Wilson, James F, Spurdle, Amanda B, Thorsteindottir, Unnur, Pollard, Katherine S, Easton, Douglas F, Tung, Joyce Y, Chang-Claude, Jenny, Hinds, David, Murray, Anna, Murabito, Joanne M, Stefansson, Kari, Ong, Ken K, and Perry, John R B
Abstract: The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project–imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P < 5 × 10−8) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ∼7.4% of the population variance in age at menarche, corresponding to ∼25% of the estimated heritability. We implicate ∼250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues. Rare variants near the imprinted genes MKRN3 and DLK1 were identified, exhibiting large effects when paternally inherited. Mendelian randomization analyses suggest causal inverse associations, independent of body mass index (BMI), between puberty timing and risks for breast and endometrial cancers in women and prostate cancer in men. In aggregate, our findings highlight the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility.
Published: 2017
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18. Arteriovenous Fistulas for Hemodialysis: Application of High-Frequency US to Assess Vein Wall Morphology for Cannulation Readiness

Author: Jaberi, Arash, primary, Muradali, Derek, additional, Marticorena, Rosa M., additional, Dacouris, Niki, additional, Boutin, Adrien, additional, Mulligan, Anna M., additional, Ballyk, Peter D., additional, Prabhudesai, Vikramaditya, additional, Campbell, Vern M., additional, and Donnelly, Sandra M., additional
Published: 2011
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19. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Author: Feng, Helian, Gusev, Alexander, Pasaniuc, Bogdan, Wu, Lang, Long, Jirong, Abu-Full, Zomoroda, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auer, Paul L, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Białkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brüning, Thomas, Burwinkel, Barbara, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canisius, Sander, Campa, Daniele, Carter, Brian D, Carter, Jonathan, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC Study Collaborators, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, De La Hoya, Miguel, De Leeneer, Kim, Dennis, Joe, Devilee, Peter, Diez, Orland, Domchek, Susan M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hake, Christopher, He, Wei, Heyworth, Jane, Hogervorst, Frans BL, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Imyanitov, Evgeny N, ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators, Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jankowitz, Rachel C, John, Esther M, Johnson, Nichola, Joseph, Vijai, Jung, Audrey, Karlan, Beth Y, Khusnutdinova, Elza, Kiiski, Johanna I, Konstantopoulou, Irene, Kristensen, Vessela N, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Leroux, Dominique, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindor, Noralane, Lindström, Sara, Lo, Wing-Yee, Loud, Jennifer T, Lubiński, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John WM, Martinez, Maria E, Matricardi, Laura, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Kapoor, Pooja M, Miller, Austin, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Osorio, Ana, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T, Pedersen, Inge S, Peixoto, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul DP, Phillips, Kelly-Anne, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Pradhan, Nisha, Prajzendanc, Karolina, Presneau, Nadege, Punie, Kevin, Pylkäs, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Risch, Harvey A, Robson, Mark, Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P, Santos, Catarina, Sawyer, Elinor J, Schmidt, Marjanka K, Schmidt, Daniel F, Schmutzler, Rita K, Schoemaker, Minouk J, Scott, Rodney J, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stone, Jennifer, Swerdlow, Anthony J, Tapper, William J, Taylor, Jack A, Teixeira, Manuel R, Terry, Mary Beth, Teulé, Alex, Thomassen, Mads, Thöne, Kathrin, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob AEM, Torres, Diana, Truong, Thérèse, Tung, Nadine, Vachon, Celine M, Van Asperen, Christi J, Van Den Ouweland, Ans MW, Van Rensburg, Elizabeth J, Vega, Ana, Viel, Alessandra, Vieiro-Balo, Paula, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Ziogas, Argyrios, Milne, Roger L, Easton, Douglas F, Chenevix-Trench, Georgia, Zheng, Wei, Kraft, Peter, and Jiang, Xia
Subjects: causal gene, TWAS, Vesicular Transport Proteins, Breast Neoplasms, Estrogens, Genomics, Risk Assessment, 3. Good health, Receptors, Estrogen, breast cancer subtype, GWAS, Humans, Female, Genetic Predisposition to Disease, Transcriptome, Genome-Wide Association Study
Abstract: Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.

20. Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Author: Spurdle, Amanda B., Couch, Fergus J., Parsons, Michael T., McGuffog, Lesley, Barrowdale, Daniel, Bolla, Manjeet K., Wang, Qin, Healey, Sue, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D Gareth, Davidson, Rosemarie, Izatt, Louise, Eeles, Ros, Adlard, Julian, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Nathanson, Katherine L., Varesco, Liliana, Balleine, Rosemary, Offit, Kenneth, Domchek, Susan M., Jakubowska, Anna, Lindor, Noralane, Thomassen, Mads, Jensen, Uffe Birk, Rantala, Johanna, Miron, Alexander, Borg, Åke, Andrulis, Irene L., Caldes, Trinidad, Hansen, Thomas V. O., Neuhausen, Susan L., Toland, Amanda E., Nevanlinna, Heli, Montagna, Marco, Godwin, Andrew K., Garber, Judy, Osorio, Ana, Factor, Rachel E., Terry, Mary Beth, Rebbeck, Timothy R., Karlan, Beth Y., Southey, Melissa, Rashid, Muhammad Usman, Tung, Nadine, Pharoah, Paul D. P., Blows, Fiona M., Provenzano, Elena, Dunning, Alison M., Hall, Per, Czene, Kamila, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Slamon, Dennis J., Nordestgaard, Børge G., Nielsen, Sune F., Bojesen, Stig E., Flyger, Henrik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomäki, Kristiina, Muranen, Taru A., Heikkilä, Päivi, Blomqvist, Carl, Chanock, Stephen J., Figueroa, Jonine, Brinton, Louise, Lissowska, Jolanta, Olson, Janet E., Pankratz, Vernon S., John, Esther M., West, Dee W., Whittemore, Alice S., Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rüdiger, Thomas, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Asperen, Christi J. Van, Eccles, Diana M., Tapper, William J., Durcan, Lorraine, Jones, Louise, Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Dwek, Miriam, Bane, Anita L., Swann, Ruth, Glendon, Gord, Mulligan, Anna M., Giles, Graham G., Milne, Roger L., Baglietto, Laura, McLean, Catriona, Carpenter, Jane, Clarke, Christine, Scott, Rodney, Brüning, Thomas, Brauch, Hiltrud, Ko, Yon-Dschun, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Jaworska-Bieniek, Katarzyna, Lubinski, Jan, Durda, Katarzyna, Gronwald, Jacek, Dörk, Thilo, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Hillemanns, Peter, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Marme, Frederik, Burwinkel, Barbara, Yang, Rongxi, Surovy, Harald, Anton-Culver, Hoda, Ziogas, Argyrios, Hooning, Maartje J., Collée, Margriet, Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volke, Stegmaier, Christa, Jukkola-Vuorinen, Arja, Pylkäs, Katri, Winqvist, Robert, Grip, Mervi, Lindblom, Annika, Margolin, Sara, Joseph, Vijai, González-Neira, Anna, Rau-Murthy, Rohini, Robson, Mark, Arias, José Ignacio, Zamora, Pilar, Benítez, Javier, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Peterlongo, Paolo, Zaffaroni, Daniela, Capra, Fabio, Barile, Monica, Radice, Paolo, Teo, Soo H., Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., and Goldgar, David E.
Subjects: endocrine system diseases, Oncology, Breast--Histopathology, Breast--Tumors, Genetics, Mutation (Biology), skin and connective tissue diseases, 10. No inequality, 3. Good health
Abstract: Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of mutation status by histopathological markers were derived using a Mantel-Haenszel approach. Results: ER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3 phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3 features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years or older (LR = 1.79 (1.42 to 2.24)). Conclusions: These results refine likelihood-ratio estimates for predicting BRCA1 and BRCA2 mutation status by using commonly measured histopathological features. Age at diagnosis is an important variable for most analyses, and grade is more informative than ER status for BRCA2 mutation carrier prediction. The estimates will improve BRCA1 and BRCA2 variant classification and inform patient mutation testing and clinical management.

21. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Author: Martin, Nicholas G., Gudbjartsson, Daniel F., Nutile, Teresa, De Mutsert, Renée, Ong, Ken K., Tung, Joyce Y., Timpson, Nicholas J., Easton, Douglas F., Meitinger, Thomas, Franceschini, Nora, Crisponi, Laura, Ulivi, Sheila, Sulem, Patrick, Völzke, Henry, Völker, Uwe, Flesch-Janys, Dieter, Mulligan, Anna M., Perjakova, Natalia, Karasik, David, Chenevix-Trench, Georgia, Bandinelli, Stefania, Järvelin, Marjo-Riitta, Pharoah, Paul D.P., Vitart, Veronique, Scott, Robert A., Tanaka, Toshiko, Paternoster, Lavinia, Rueedi, Rico, Altmaier, Elisabeth, Murray, Anna, Palotie, Aarno, Mägi, Reedik, Catamo, Eulalia, Grallert, Harald, McMahon, George, Mbarek, Hamdi, Joshi, Peter K., Tyrer, Jonathan P., Giri, Ayush, Hopper, John L., Boerwinkle, Eric, Spector, Tim D., Loh, Po-Ru, Alizadeh, Behrooz Z., Barbieri, Caterina M., Rahman, Iffat, Ikram, M. Arfan, Amini, Marzyeh, Magnusson, Patrik K.E., Wang, Qin, Lawlor, Debbie A., Hu, Frank, Hartman, Catharina A., Willemsen, Gonneke, Padmanabhan, Sandosh, Southey, Melissa C., Schraut, Katharina E., Montgomery, Grant W., Brauch, Hiltrud, Couch, Fergus J., Heiss, Gerardo, Luan, Jian'An, Murabito, Joanne M., Pedersen, Nancy, Beckmann, Matthias W., Thorsteindottir, Unnur, Wareham, Nicholas J., Cucca, Francesco, Noordam, Raymond, Im, Hae Kyung, Visser, Jenny A., Teumer, Alexander, McCarthy, Mark I., Liu, Yongmei, Oldehinkel, Albertine J., Rudan, Igor, Czene, Kamila, Hamann, Ute, Menni, Cristina, Medland, Sarah E., Kolcic, Ivana, Polasek, Ozren, Demerath, Ellen, Li, Jingmei, Mook-Kanamori, Dennis O., Smith, Albert V., Toniolo, Daniela, Lenarduzzi, Stefania, Zhao, Jing Hua, Uitterlinden, André G., Campbell, Harry, Stöckl, Doris, Segrè, Ayellet V., Day, Felix R., Benitez, Javier, Andrulis, Irene L., Ridker, Paul M., Nyholt, Dale R., Edwards, Digna R. Velez, Mannermaa, Arto, Gabrielson, Marike, Boutin, Thibaud, Wolffenbuttel, Bruce H.R., Launer, Lenore J., Lindstrom, Sara, Meisinger, Christa, Buring, Julie E., Whalen, Sean, Zoledziewska, Magdalena, Milne, Roger L., Rosendaal, Frits R., Helgason, Hannes, Lunetta, Kathryn L., Mangino, Massimo, Tikkanen, Emmi, Hallberg, Emily, Cox, Angela, Strauch, Konstantin, Pollard, Katherine S., Hottenga, Jouke J., Widen, Elisabeth, Gieger, Christian, Gandin, Ilaria, Dunning, Alison M., Kraft, Peter, Dos-Santos-Silva, Isabel, Van Dijk, Ko Willems, Brand, Judith S., Giles, Graham G., Stolk, Lisette, Michailidou, Kyriaki, Bolla, Manjeet K., Fernández-Rhodes, Lindsay, Hinds, David, Davey Smith, George, Bochud, Murielle, Radice, Paolo, Marco, Brumat, Fasching, Peter A., Chang-Claude, Jenny, Price, Alkes L., Lind, Penelope A., Ruggiero, Daniela, Campbell, Archie, Robino, Antonietta, Hall, Per, Laven, Joop S.E., Metspalu, Andres, Finucane, Hilary, Lambrechts, Diether, Navarro, Pau, Devilee, Peter, Nevanlinna, Heli, O'Mara, Tracy A., Peto, Julian, Ferrucci, Luigi, Schmidt, Marjanka K., Corre, Tanguy, Sorice, Rossella, Ring, Susan M., Winqvist, Robert, Harris, Tamara B., Hayward, Caroline, De Vivo, Immaculata, Dennis, Joe, Porteous, David, Brenner, Hermann, Guénel, Pascal, Kutalik, Zoltan, Truong, Thérèse, Nohr, Ellen A., Perry, John R.B., Porcu, Eleonora, Eriksson, Johan G., Karlsson, Robert, Chanock, Stephen, Esko, Tõnu, Zygmunt, Marek, Nalls, Mike A., Stampfer, Meir, De Geus, Eco J.C.N., Snieder, Harold, Franke, Lude, Boomsma, Dorret I., Bojesen, Stig E., Sala, Cinzia F., Spurdle, Amanda B., Sarkar, Abhishek K., Brüning, Thomas, Hunter, David J., Gudnason, Vilmundur, Chasman, Daniel I., Stefansson, Kari, Vollenweider, Peter, Cousminer, Diana L., Albrecht, Eva, Steri, Maristella, Milani, Lili, Thompson, Deborah J., Broer, Linda, Rose, Lynda M., Lachance, Genevieve, Shah, Mitul, Bergmann, Sven, Ciullo, Marina, Peters, Annette, Pouta, Anneli, Hooning, Maartje J., Langenberg, Claudia, Ruth, Katherine S., Sovio, Ulla, Traglia, Michela, Nolte, Ilja M., He, Chunyan, Wilson, James F., and Kellis, Manolis
Subjects: 2. Zero hunger, 3. Good health
Abstract: The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to similar to 370,000 women, we identify 389 independent signals (P

22. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Beckmann, Lars, Khaw, Kay-Tee, Robson, Mark, Lambrechts, Diether, Lilyquist, Janna, Hallberg, Emily, Winqvist, Robert, Richardson, Andrea, Mulligan, Anna M., Tung, Nadine, Arver, Brita, Scott, Rodney, Arun, Banu K., Glendon, Gord, Zheng, Wei, Nevanlinna, Heli, Malone, Kathleen E., Milne, Roger L., Greene, Mark H., Chung, Wendy K., Neuhausen, Susan L., Makalic, Enes, Le Marchand, Loic, Tollenaar, Robert A. E. M., Benitez, Javier, Beckmann, Matthias W., Santella, Regina M., Tamimi, Rulla, Ekici, Arif B., Hall, Per, Ahsan, Habibul, Olson, Janet E., Jensen, Uffe Birk, Barrowdale, Daniel, Ghoussaini, Maya, Lindblom, Annika, Montagna, Marco, Kabisch, Maria, Cox, Angela, Gabrielson, Marike, Kraft, Peter, Radice, Paolo, Tihomirova, Laima, Wang-Gohrke, Shan, Szabo, Csilla I., Claes, Kathleen B. M., Hooning, Maartje J., Buys, Saundra S., Lindstrom, Sara, Tumino, Rosario, Lee, Eunjung, Swerdlow, Anthony, Eccles, Diana M., Rahman, Nazneen, Bonanni, Bernardo, Darabi, Hatef, Nathanson, Katherine L., Barile, Monica, Hansen, Thomas V. O., Chenevix-Trench, Georgia, Mai, Phuong L., Cross, Simon S., Jones, Michael, Teo, Soo-Hwang, Carpenter, Jane, Dos-Santos-Silva, Isabel, Wang, Zhaoming, Peto, Julian, Tsimiklis, Helen, Dorfling, Cecilia M., Schmidt, Marjanka K., Cunningham, Julie M., Rappaport, Christine, Gapstur, Susan M., Schmutzler, Rita K., Haeberle, Lothar, Guénel, Pascal, Goldberg, Mark S., Hunter, David J., Karlan, Beth Y., Olopade, Olufunmilayo I., Lester, Jenny, Stoppa-Lyonnet, Dominique, Czene, Kamila, Turnbull, Clare, Haiman, Christopher A., Andrulis, Irene L., Miller, Austin, Bogdanova, Natalia V., Toland, Amanda E., Park, Sue K., Senter, Leigha, Ehrencrona, Hans, Dunning, Alison M., Van Rensburg, Elizabeth J., Couch, Fergus J., Giles, Graham G., Kwong, Ava, Yang, Xiaohong R., Olswold, Curtis, Lubinski, Jan, Barkardottir, Rosa B., Flesch-Janys, Dieter, Nordestgaard, Børge G., Domchek, Susan M., Mendoza-Fandino, Gustavo A., Bojesen, Stig E., Easton, Douglas F., Yao, Song, Teulé, Alex, Sinilnikova, Olga M., Slager, Susan, Zamora, M Pilar, Schmidt, Daniel F., Vachon, Celine, Hamann, Ute, Ko, Yon-Dschun, Gerdes, Anne-Marie, Nussbaum, Robert L., Devilee, Peter, Southey, Melissa, Rennert, Gad, Eliassen, Heather, Humphreys, Keith, García-Closas, Montserrat, Chang-Claude, Jenny, Healey, Sue, Lindor, Noralane, Godwin, Andrew K., Soucy, Penny, Huzarski, Tomasz, Figueroa, Jonine, Teixeira, Manuel R., Thompson, Deborah, Sawyer, Elinor J., Hopper, John L., Mazoyer, Sylvie, Goldgar, David E., Mannermaa, Arto, Ursin, Giski, Diez, Orland, Agata, Simona, Long, Jirong, Knight, Julia A., Dolcetti, Riccardo, Hogervorst, Frans B. L., Van Deurzen, Carolien H. M., Hollestelle, Antoinette, Rutgers, Emiel J., Ganz, Patricia A., Antoniou, Antonis C., Fasching, Peter A., Hoover, Robert N., Friebel, Tara, Weitzel, Jeffrey N., Peterlongo, Paolo, Chanock, Stephen J., Monteiro, Alvaro A. N., Damiola, Francesca, Weiderpass, Elisabete, Tapper, William, Phelan, Catherine M., Hart, Steven, Friedman, Eitan, Anton-Culver, Hoda, Blank, Stephanie V., Margolin, Sara, Burwinkel, Barbara, Sanchez, Maria-Jose, Kuchenbaecker, Karoline B., Tomlinson, Ian, Liu, Jianjun, González-Neira, Anna, Rudolph, Anja, Varon-Mateeva, Raymonda, Pylkäs, Katri, Canzian, Federico, Miron, Penelope, Arndt, Volker, Wildiers, Hans, Fostira, Florentia, Peissel, Bernard, Caldes, Trinidad, Rantala, Johanna, Ellis, Steve, Michailidou, Kyriaki, Garber, Judy, Konstantopoulou, Irene, Kibriya, Muhammad G., Heikkinen, Tuomas, Aittomäki, Kristiina, Laitman, Yael, Kar, Siddhartha, Truong, Thérèse, Sharma, Priyanka, Thomassen, Mads, Försti, Asta, Gaudet, Mia M., Bolla, Manjeet K., Olah, Edith, Janavicius, Ramunas, Gunter, Marc, Ambrosone, Christine, Yannoukakos, Drakoulis, Lazaro, Conxi, Frost, Debra, Brenner, Hermann, Terry, Mary B., Caligo, Maria A., Steinemann, Doris, Marme, Frederik, Osorio, Ana, James, Paul, De La Hoya, Miguel, Pharoah, Paul D. P., Meindl, Alfons, Blomqvist, Carl, Pilarski, Robert, Dumont, Martine, Kosma, Veli-Matti, Romieu, Isabelle, Khan, Sofia, Henderson, Brian E., Peeters, Petra H., Singer, Christian F., Kristensen, Vessela, Gronwald, Jacek, Simard, Jacques, Martens, John W. M., Mcguffog, Lesley, Gayther, Simon A., Imyanitov, Evgeny N., John, Esther M., Offit, Kenneth, Schumacher, Fredrick, Gammon, Marilie D., Stenmark-Askmalm, Marie, Foulkes, William D., Isaacs, Claudine, Whittemore, Alice, Nord, Silje, Daly, Mary B., Ding, Yuan C., Manoukian, Siranoush, Jakubowska, Anna, Muranen, Taru A., Herzog, Josef, Poppe, Bruce, and Brauch, Hiltrud
Subjects: skin and connective tissue diseases, 3. Good health
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P

23. Refined histopathological predictors of BRCA1 and BRCA2 mutation status : a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Author: Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Spurdle, Amanda B., Couch, Fergus J., Parsons, Michael T., McGuffog, Lesley, Barrowdale, Daniel, Bolla, Manjeet K., Wang, Qin, Healey, Sue, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D. Gareth, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Varesco, Liliana, Balleine, Rosemary, Nathanson, Katherine L., Domchek, Susan M., Offitt, Kenneth, Jakubowska, Anna, Lindor, Noralane, Thomassen, Mads, Jensen, Uffe Birk, Rantala, Johanna, Borg, Ake, Andrulis, Irene L., Miron, Alexander, Hansen, Thomas V. O., Caldes, Trinidad, Neuhausen, Susan L., Toland, Amanda E., Nevanlinna, Heli, Montagna, Marco, Garber, Judy, Godwin, Andrew K., Osorio, Ana, Factor, Rachel E., Terry, Mary B., Rebbeck, Timothy R., Karlan, Beth Y., Southey, Melissa, Rashid, Muhammad Usman, Tung, Nadine, Pharoah, Paul D. P., Blows, Fiona M., Dunning, Alison M., Provenzano, Elena, Hall, Per, Czene, Kamila, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Verhoef, Senno, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Slamon, Dennis J., Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomäki, Kristiina, Muranen, Taru A., Heikkilä, Päivi, Blomqvist, Carl, Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Olson, Janet E., Pankratz, Vernon S., John, Esther M., Whittemore, Alice S., West, Dee W., Hamann, Ute, Torres López, Diana María, Ulmer, Hans Ulrich, Rüdiger, Thomas, Devilee, Peter, Tollenaar, Robert A. E. M, Seynaeve, Caroline, Van Asperen, Christi J., Eccles, Diana M., Tapper, William J., Durcan, Lorraine, Jones, Louise, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Dwek, Miriam, Swann, Ruth, Bane, Anita L., Glendon, Gord, Mulligan, Anna M., Giles, Graham G., Milne, Roger L., Baglietto, Laura, McLean, Catriona, Carpenter, Jane, Clarke, Christine, Scott, Rodney, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Dörk, Thilo, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Hillemanns, Peter, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Burwinkel, Barbara, Marme, Frederik, Surovy, Harald, Yang, Rongxi, Anton-Culver, Hoda, Ziogas, Argyrios, Hooning, Maartje J., Collée, J. Margriet, Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volke, Stegmaier, Christa, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Lindblom, Annika, Margolin, Sara, Joseph, Vijai, Robson, Mark, Rau-Murthy, Rohini, González Neira, Anna, Arias, Jose Ignacio, Zamora, Pilar, Benítez, Javier, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Peterlongo, Paolo, Zaffaroni, Daniela, Barile, Monica, Capra, Fabio, Radice, Paolo, Teo, Soo H., Easton, Douglas F., Antoniou, Antonis C., Chenevix-Trench, Georgia, Goldgar, David E., Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Spurdle, Amanda B., Couch, Fergus J., Parsons, Michael T., McGuffog, Lesley, Barrowdale, Daniel, Bolla, Manjeet K., Wang, Qin, Healey, Sue, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D. Gareth, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Varesco, Liliana, Balleine, Rosemary, Nathanson, Katherine L., Domchek, Susan M., Offitt, Kenneth, Jakubowska, Anna, Lindor, Noralane, Thomassen, Mads, Jensen, Uffe Birk, Rantala, Johanna, Borg, Ake, Andrulis, Irene L., Miron, Alexander, Hansen, Thomas V. O., Caldes, Trinidad, Neuhausen, Susan L., Toland, Amanda E., Nevanlinna, Heli, Montagna, Marco, Garber, Judy, Godwin, Andrew K., Osorio, Ana, Factor, Rachel E., Terry, Mary B., Rebbeck, Timothy R., Karlan, Beth Y., Southey, Melissa, Rashid, Muhammad Usman, Tung, Nadine, Pharoah, Paul D. P., Blows, Fiona M., Dunning, Alison M., Provenzano, Elena, Hall, Per, Czene, Kamila, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Verhoef, Senno, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Slamon, Dennis J., Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomäki, Kristiina, Muranen, Taru A., Heikkilä, Päivi, Blomqvist, Carl, Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Olson, Janet E., Pankratz, Vernon S., John, Esther M., Whittemore, Alice S., West, Dee W., Hamann, Ute, Torres López, Diana María, Ulmer, Hans Ulrich, Rüdiger, Thomas, Devilee, Peter, Tollenaar, Robert A. E. M, Seynaeve, Caroline, Van Asperen, Christi J., Eccles, Diana M., Tapper, William J., Durcan, Lorraine, Jones, Louise, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Dwek, Miriam, Swann, Ruth, Bane, Anita L., Glendon, Gord, Mulligan, Anna M., Giles, Graham G., Milne, Roger L., Baglietto, Laura, McLean, Catriona, Carpenter, Jane, Clarke, Christine, Scott, Rodney, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Dörk, Thilo, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Hillemanns, Peter, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Burwinkel, Barbara, Marme, Frederik, Surovy, Harald, Yang, Rongxi, Anton-Culver, Hoda, Ziogas, Argyrios, Hooning, Maartje J., Collée, J. Margriet, Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volke, Stegmaier, Christa, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Lindblom, Annika, Margolin, Sara, Joseph, Vijai, Robson, Mark, Rau-Murthy, Rohini, González Neira, Anna, Arias, Jose Ignacio, Zamora, Pilar, Benítez, Javier, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Peterlongo, Paolo, Zaffaroni, Daniela, Barile, Monica, Capra, Fabio, Radice, Paolo, Teo, Soo H., Easton, Douglas F., Antoniou, Antonis C., Chenevix-Trench, Georgia, and Goldgar, David E.

24. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Author: Emmi Tikkanen, Pascal Guénel, Rico Rueedi, Hamdi Mbarek, Gerardo Heiss, Hilary K. Finucane, Jing Hua Zhao, Peter K. Joshi, Mark I. McCarthy, Frank B. Hu, Stephen J. Chanock, Manjeet K. Bolla, Sandosh Padmanabhan, Vilmundur Gudnason, Chunyan He, Aarno Palotie, Reedik Mägi, Joe Dennis, Nicholas G. Martin, Behrooz Z. Alizadeh, Elisabeth Widen, Caroline Hayward, Penelope A. Lind, Magdalena Zoledziewska, Ayellet V. Segrè, Fergus J. Couch, Massimo Mangino, Melissa C. Southey, Immaculata De Vivo, Yongmei Liu, Ute Hamann, Angela Cox, Maartje J. Hooning, Iffat Rahman, Mitul Shah, Eric Boerwinkle, Matthias W. Beckmann, Catharina A. Hartman, Tanguy Corre, Kathryn L. Lunetta, Thérèse Truong, Anna Marie Mulligan, Caterina Barbieri, Robert Winqvist, Lili Milani, Cristina Menni, Frits R. Rosendaal, Pau Navarro, Christian Gieger, Ken K. Ong, Stig E. Bojesen, Susan M. Ring, Marjanka K. Schmidt, George McMahon, Deborah J. Thompson, Robert Karlsson, Nicholas J. Timpson, M. Arfan Ikram, Alexander Teumer, Jingmei Li, Christa Meisinger, Diana L. Cousminer, Doris Stöckl, Heli Nevanlinna, Teresa Nutile, Tim D. Spector, Eva Albrecht, Murielle Bochud, Linda Broer, Felix R. Day, Sven Bergmann, Renée de Mutsert, Nicholas J. Wareham, Marjo-Riitta Järvelin, Marzyeh Amini, Elisabeth Altmaier, Isabel dos-Santos-Silva, Peter Vollenweider, Douglas F. Easton, Tamara B. Harris, Ellen A. Nohr, Paul D.P. Pharoah, David J. Porteous, Jenny A. Visser, Ilja M. Nolte, Genevieve Lachance, Thomas Meitinger, Archie Campbell, Thomas Brüning, Graham G. Giles, Johan G. Eriksson, Nancy L. Pedersen, George Davey Smith, Gonneke Willemsen, Joanne M. Murabito, Francesco Cucca, Daniel I. Chasman, Eleonora Porcu, Nora Franceschini, Thibaud Boutin, Ulla Sovio, Roger L. Milne, Annette Peters, Lisette Stolk, Paul M. Ridker, Claudia Langenberg, Patrick Sulem, Toshiko Tanaka, Marike Gabrielson, Judith S. Brand, Unnur Thorsteindottir, Alison M. Dunning, Marina Ciullo, Julie E. Buring, Harold Snieder, Lude Franke, Meir J. Stampfer, Po-Ru Loh, Julian Peto, Ellen W. Demerath, Sheila Ulivi, Ivana Kolcic, Maristella Steri, Jouke J. Hottenga, Amanda B. Spurdle, Tõnu Esko, Katherine S. Pollard, Eulalia Catamo, Anneli Pouta, Kyriaki Michailidou, Dieter Flesch-Janys, James F. Wilson, Kamila Czene, Sean Whalen, Diether Lambrechts, Abhishek Sarkar, Laura Crisponi, Jonathan Tyrer, Antonietta Robino, Sara Lindström, Harald Grallert, Stefania Lenarduzzi, Peter Kraft, Patrik K. E. Magnusson, Lavinia Paternoster, Digna R. Velez Edwards, Mike A. Nalls, Per Hall, Joyce Y. Tung, Cinzia Sala, Lindsay Fernández-Rhodes, Ayush Giri, Hiltrud Brauch, André G. Uitterlinden, Alkes L. Price, Tracy A. O'Mara, Lynda M. Rose, John L. Hopper, David A. Hinds, Katherine S. Ruth, Arto Mannermaa, Uwe Völker, Rossella Sorice, Zoltán Kutalik, Debbie A Lawlor, Georgia Chenevix-Trench, Anna Murray, Albertine J. Oldehinkel, Bruce H. R. Wolffenbuttel, Hae Kyung Im, Dale R. Nyholt, Lenore J. Launer, Andres Metspalu, Irene L. Andrulis, Konstantin Strauch, Albert V. Smith, Daniela Toniolo, Eco J. C. de Geus, Jenny Chang-Claude, Marek Zygmunt, Dorret I. Boomsma, Harry Campbell, Peter Devilee, Henry Völzke, Daniela Ruggiero, Dennis O. Mook-Kanamori, John R. B. Perry, Javier Benitez, Grant W. Montgomery, David J. Hunter, David Karasik, Luigi Ferrucci, Emily Hallberg, Stefania Bandinelli, Hermann Brenner, Raymond Noordam, Sarah E. Medland, Peter A. Fasching, Qin Wang, Ilaria Gandin, Manolis Kellis, Hannes Helgason, Igor Rudan, Paolo Radice, Michela Traglia, Jian'an Luan, Robert A. Scott, Brumat Marco, Veronique Vitart, Kari Stefansson, Katharina E. Schraut, Ko Willems van Dijk, Ozren Polasek, Daniel F. Gudbjartsson, Natalia Perjakova, Joop S.E. Laven, Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, APH - Methodology, Art and Culture, History, Antiquity, Day, Felix R., Thompson, Deborah J., Helgason, Hanne, Chasman, Daniel I., Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S., Whalen, Sean, Sarkar, Abhishek K., Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, CATERINA MARIA, Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J., Karlsson, Robert, Kolcic, Ivana, Loh, Po Ru, Lunetta, Kathryn L., Mangino, Massimo, Brumat, Marco, Mcmahon, George, Medland, Sarah E., Nolte, Ilja M., Noordam, Raymond, Nutile, Teresa, Paternoster, Lavinia, Perjakova, Natalia, Porcu, Eleonora, Rose, Lynda M., Schraut, Katharina E., Segrã¨, Ayellet V., Smith, Albert V., Stolk, Lisette, Teumer, Alexander, Andrulis, Irene L., Bandinelli, Stefania, Beckmann, Matthias W., Benitez, Javier, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E., Bolla, Manjeet K., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Broer, Linda, Brã¼ning, Thoma, Buring, Julie E., Campbell, Harry, Catamo, Eulalia, Chanock, Stephen, Chenevix Trench, Georgia, Corre, Tanguy, Couch, Fergus J., Cousminer, Diana L., Cox, Angela, Crisponi, Laura, Czene, Kamila, Davey Smith, George, De Geus, Eco J. C. N., De Mutsert, Renã©e, De Vivo, Immaculata, Dennis, Joe, Devilee, Peter, Dos Santos Silva, Isabel, Dunning, Alison M., Eriksson, Johan G., Fasching, Peter A., FernÃ¡ndez Rhodes, Lindsay, Ferrucci, Luigi, Flesch Janys, Dieter, Franke, Lude, Gabrielson, Marike, Gandin, Ilaria, Giles, Graham G., Grallert, Harald, Gudbjartsson, Daniel F., Guã©nel, Pascal, Hall, Per, Hallberg, Emily, Hamann, Ute, Harris, Tamara B., Hartman, Catharina A., Heiss, Gerardo, Hooning, Maartje J., Hopper, John L., Hu, Frank, Hunter, David J., Ikram, M. Arfan, Im, Hae Kyung, Jã¤rvelin, Marjo Riitta, Joshi, Peter K., Karasik, David, Kellis, Manoli, Kutalik, Zoltan, Lachance, Genevieve, Lambrechts, Diether, Langenberg, Claudia, Launer, Lenore J., Laven, Joop S. E., Lenarduzzi, Stefania, Li, Jingmei, Lind, Penelope A., Lindstrom, Sara, Liu, Yongmei, Luan, Jian'An, Mã¤gi, Reedik, Mannermaa, Arto, Mbarek, Hamdi, Mccarthy, Mark I., Meisinger, Christa, Meitinger, Thoma, Menni, Cristina, Metspalu, Andre, Michailidou, Kyriaki, Milani, Lili, Milne, Roger L., Montgomery, Grant W., Mulligan, Anna M., Nalls, Mike A., Navarro, Pau, Nevanlinna, Heli, Nyholt, Dale R., Oldehinkel, Albertine J., O'Mara, Tracy A., Padmanabhan, Sandosh, Palotie, Aarno, Pedersen, Nancy, Peters, Annette, Peto, Julian, Pharoah, Paul D. P., Pouta, Anneli, Radice, Paolo, Rahman, Iffat, Ring, Susan M., Robino, Antonietta, Rosendaal, Frits R., Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Sala, Cinzia F., Schmidt, Marjanka K., Scott, Robert A., Shah, Mitul, Sorice, Rossella, Southey, Melissa C., Sovio, Ulla, Stampfer, Meir, Steri, Maristella, Strauch, Konstantin, Tanaka, Toshiko, Tikkanen, Emmi, Timpson, Nicholas J., Traglia, Michela, Truong, Thã©rã¨se, Tyrer, Jonathan P., Uitterlinden, AndrÃ© G., Edwards, Digna R. Velez, Vitart, Veronique, Vã¶lker, Uwe, Vollenweider, Peter, Wang, Qin, Widen, Elisabeth, Van Dijk, Ko Willem, Willemsen, Gonneke, Winqvist, Robert, Wolffenbuttel, Bruce H. R., Zhao, Jing Hua, Zoledziewska, Magdalena, Zygmunt, Marek, Alizadeh, Behrooz Z., Boomsma, Dorret I., Ciullo, Marina, Cucca, Francesco, Esko, Tãµnu, Franceschini, Nora, Gieger, Christian, Gudnason, Vilmundur, Hayward, Caroline, Kraft, Peter, Lawlor, Debbie A., Magnusson, Patrik K. E., Martin, Nicholas G., Mook Kanamori, Dennis O., Nohr, Ellen A., Polasek, Ozren, Porteous, David, Price, Alkes L., Ridker, Paul M., Snieder, Harold, Spector, Tim D., Stã¶ckl, Dori, Toniolo, Daniela, Ulivi, Sheila, Visser, Jenny A., Vã¶lzke, Henry, Wareham, Nicholas J., Wilson, James F., LifeLines Cohort, Study, Interact, Consortium, Kconfab/aocs, Investigator, Endometrial Cancer Association, Consortium, Ovarian Cancer Association, Consortium, Practical, Consortium, Spurdle, Amanda B., Thorsteindottir, Unnur, Pollard, Katherine S., Easton, Douglas F., Tung, Joyce Y., Chang Claude, Jenny, Hinds, David, Murray, Anna, Murabito, Joanne M., Stefansson, Kari, Ong, Ken K., Perry, John R. B., Internal Medicine, Erasmus MC other, Medical Oncology, Epidemiology, Obstetrics & Gynecology, Day, Felix [0000-0003-3789-7651], Thompson, Deborah [0000-0003-1465-5799], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Langenberg, Claudia [0000-0002-5017-7344], Luan, Jian'an [0000-0003-3137-6337], Pharoah, Paul [0000-0001-8494-732X], Sovio, Ulla [0000-0002-0799-1105], Tyrer, Jonathan [0000-0003-3724-4757], Zhao, Jing Hua [0000-0003-4930-3582], Wareham, Nicholas [0000-0003-1422-2993], Easton, Douglas [0000-0003-2444-3247], Ong, Kenneth [0000-0003-4689-7530], Perry, John [0000-0001-6483-3771], Apollo - University of Cambridge Repository, Massachusetts Institute of Technology. Department of Mathematics, and Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Subjects: 0301 basic medicine, Male, Netherlands Twin Register (NTR), Ovarian Cancer Association Consortium, LOCI, Genome-wide association study, cancer risk, Menarche/genetics, Bioinformatics, GWAS, menarche, puberty, Body Mass Index, Risk Factors, Neoplasms, Databases, Genetic, WIDE ASSOCIATION, Endometrial Cancer Association Consortium, Ribonucleoproteins/genetics, 2. Zero hunger, Genetics, Age Factors, Genetics GWAS menarche, reproductive disorders, Neoplasms/genetics, 3. Good health, Ribonucleoproteins, Menarche, MENDELIAN RANDOMIZATION, Intercellular Signaling Peptides and Proteins, GROWTH, Female, TRAITS, Population variance, Intercellular Signaling Peptides and Proteins/genetics, Adolescent, Ubiquitin-Protein Ligases, kConFab/AOCS Investigators, Quantitative Trait Loci, Quantitative trait locus, Biology, METABOLISM, INHERITANCE, Polymorphism, Single Nucleotide, PRACTICAL consortium, 03 medical and health sciences, Genomic Imprinting, SDG 3 - Good Health and Well-being, Mendelian randomization, REGRESSION, medicine, Journal Article, Humans, cancer, Genetic Predisposition to Disease, 1000 Genomes Project, Membrane Proteins/genetics, METAANALYSIS, Puberty, Calcium-Binding Proteins, Membrane Proteins, Cancer, InterAct Consortium, Heritability, medicine.disease, BODY-MASS INDEX, 030104 developmental biology, genome-wide association studies, Puberty/genetics, LifeLines Cohort Study, Genome-Wide Association Study
Abstract: The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to similar to 370,000 women, we identify 389 independent signals (P
Published: 2017

25. Genetic insights into biological mechanisms governing human ovarian ageing.

Author: Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, Gonzalez JM, Fontanillas P, Claringbould A, Bakker OB, Sulem P, Walters RG, Terao C, Turon S, Horikoshi M, Lin K, Onland-Moret NC, Sankar A, Hertz EPT, Timshel PN, Shukla V, Borup R, Olsen KW, Aguilera P, Ferrer-Roda M, Huang Y, Stankovic S, Timmers PRHJ, Ahearn TU, Alizadeh BZ, Naderi E, Andrulis IL, Arnold AM, Aronson KJ, Augustinsson A, Bandinelli S, Barbieri CM, Beaumont RN, Becher H, Beckmann MW, Benonisdottir S, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK, Boomsma DI, Bowker N, Brody JA, Broer L, Buring JE, Campbell A, Campbell H, Castelao JE, Catamo E, Chanock SJ, Chenevix-Trench G, Ciullo M, Corre T, Couch FJ, Cox A, Crisponi L, Cross SS, Cucca F, Czene K, Smith GD, de Geus EJCN, de Mutsert R, De Vivo I, Demerath EW, Dennis J, Dunning AM, Dwek M, Eriksson M, Esko T, Fasching PA, Faul JD, Ferrucci L, Franceschini N, Frayling TM, Gago-Dominguez M, Mezzavilla M, García-Closas M, Gieger C, Giles GG, Grallert H, Gudbjartsson DF, Gudnason V, Guénel P, Haiman CA, Håkansson N, Hall P, Hayward C, He C, He W, Heiss G, Høffding MK, Hopper JL, Hottenga JJ, Hu F, Hunter D, Ikram MA, Jackson RD, Joaquim MDR, John EM, Joshi PK, Karasik D, Kardia SLR, Kartsonaki C, Karlsson R, Kitahara CM, Kolcic I, Kooperberg C, Kraft P, Kurian AW, Kutalik Z, La Bianca M, LaChance G, Langenberg C, Launer LJ, Laven JSE, Lawlor DA, Le Marchand L, Li J, Lindblom A, Lindstrom S, Lindstrom T, Linet M, Liu Y, Liu S, Luan J, Mägi R, Magnusson PKE, Mangino M, Mannermaa A, Marco B, Marten J, Martin NG, Mbarek H, McKnight B, Medland SE, Meisinger C, Meitinger T, Menni C, Metspalu A, Milani L, Milne RL, Montgomery GW, Mook-Kanamori DO, Mulas A, Mulligan AM, Murray A, Nalls MA, Newman A, Noordam R, Nutile T, Nyholt DR, Olshan AF, Olsson H, Painter JN, Patel AV, Pedersen NL, Perjakova N, Peters A, Peters U, Pharoah PDP, Polasek O, Porcu E, Psaty BM, Rahman I, Rennert G, Rennert HS, Ridker PM, Ring SM, Robino A, Rose LM, Rosendaal FR, Rossouw J, Rudan I, Rueedi R, Ruggiero D, Sala CF, Saloustros E, Sandler DP, Sanna S, Sawyer EJ, Sarnowski C, Schlessinger D, Schmidt MK, Schoemaker MJ, Schraut KE, Scott C, Shekari S, Shrikhande A, Smith AV, Smith BH, Smith JA, Sorice R, Southey MC, Spector TD, Spinelli JJ, Stampfer M, Stöckl D, van Meurs JBJ, Strauch K, Styrkarsdottir U, Swerdlow AJ, Tanaka T, Teras LR, Teumer A, Þorsteinsdottir U, Timpson NJ, Toniolo D, Traglia M, Troester MA, Truong T, Tyrrell J, Uitterlinden AG, Ulivi S, Vachon CM, Vitart V, Völker U, Vollenweider P, Völzke H, Wang Q, Wareham NJ, Weinberg CR, Weir DR, Wilcox AN, van Dijk KW, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wolk A, Wood AR, Zhao W, Zygmunt M, Chen Z, Li L, Franke L, Burgess S, Deelen P, Pers TH, Grøndahl ML, Andersen CY, Pujol A, Lopez-Contreras AJ, Daniel JA, Stefansson K, Chang-Claude J, van der Schouw YT, Lunetta KL, Chasman DI, Easton DF, Visser JA, Ozanne SE, Namekawa SH, Solc P, Murabito JM, Ong KK, Hoffmann ER, Murray A, Roig I, and Perry JRB
Subjects: Adult, Alleles, Animals, Bone and Bones metabolism, Checkpoint Kinase 1 genetics, Checkpoint Kinase 2 genetics, Diabetes Mellitus, Type 2, Diet, Europe ethnology, Asia, Eastern ethnology, Female, Fertility genetics, Fragile X Mental Retardation Protein genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Healthy Aging genetics, Humans, Longevity genetics, Menopause genetics, Menopause, Premature genetics, Mice, Mice, Inbred C57BL, Middle Aged, Primary Ovarian Insufficiency genetics, Uterus, Aging genetics, Ovary metabolism
Abstract: Reproductive longevity is essential for fertility and influences healthy ageing in women 1,2 , but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at natural menopause (ANM) in about 200,000 women of European ancestry. These common alleles were associated with clinical extremes of ANM; women in the top 1% of genetic susceptibility have an equivalent risk of premature ovarian insufficiency to those carrying monogenic FMR1 premutations 3 . The identified loci implicate a broad range of DNA damage response (DDR) processes and include loss-of-function variants in key DDR-associated genes. Integration with experimental models demonstrates that these DDR processes act across the life-course to shape the ovarian reserve and its rate of depletion. Furthermore, we demonstrate that experimental manipulation of DDR pathways highlighted by human genetics increases fertility and extends reproductive life in mice. Causal inference analyses using the identified genetic variants indicate that extending reproductive life in women improves bone health and reduces risk of type 2 diabetes, but increases the risk of hormone-sensitive cancers. These findings provide insight into the mechanisms that govern ovarian ageing, when they act, and how they might be targeted by therapeutic approaches to extend fertility and prevent disease., (© 2021. The Author(s), under exclusive licence to Springer Nature Limited.)
Published: 2021
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26. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

Author: Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu-Full Z, Aittomäki K, Andrulis IL, Anton-Culver H, Antoniou AC, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blanco A, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brüning T, Burwinkel B, Cai Q, Caldés T, Caligo MA, Campbell I, Canisius S, Campa D, Carter BD, Carter J, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, De Leeneer K, Dennis J, Devilee P, Diez O, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gabrielson M, Ganz PA, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, Hake C, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Huang G, Hulick PJ, Humphreys K, Imyanitov EN, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Jung A, Karlan BY, Khusnutdinova E, Kiiski JI, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leroux D, Leslie G, Lester J, Lesueur F, Lindor N, Lindström S, Lo WY, Loud JT, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Martinez ME, Matricardi L, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Kapoor PM, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park-Simon TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Plaseska-Karanfilska D, Poppe B, Pradhan N, Prajzendanc K, Presneau N, Punie K, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Risch HA, Robson M, Romero A, Saloustros E, Sandler DP, Santos C, Sawyer EJ, Schmidt MK, Schmidt DF, Schmutzler RK, Schoemaker MJ, Scott RJ, Sharma P, Shu XO, Simard J, Singer CF, Skytte AB, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teulé A, Thomassen M, Thöne K, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Torres D, Truong T, Tung N, Vachon CM, van Asperen CJ, van den Ouweland AMW, van Rensburg EJ, Vega A, Viel A, Vieiro-Balo P, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Milne RL, Easton DF, Chenevix-Trench G, Zheng W, Kraft P, and Jiang X
Subjects: Breast Neoplasms metabolism, Estrogens metabolism, Female, Genetic Predisposition to Disease, Genomics, Humans, Risk Assessment, Transcriptome, Vesicular Transport Proteins genetics, Breast Neoplasms genetics, Genome-Wide Association Study, Receptors, Estrogen metabolism
Abstract: Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer., (© 2020 The Authors. Genetic Epidemiology published by Wiley Periodicals, Inc.)
Published: 2020
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27. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

Author: Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, Wang Q, Healey S, Schmutzler R, Wappenschmidt B, Rhiem K, Hahnen E, Engel C, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Ellis S, Frost D, Platte R, Perkins J, Evans DG, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Scuvera G, Manoukian S, Bonanni B, Mariette F, Fortuzzi S, Viel A, Pasini B, Papi L, Varesco L, Balleine R, Nathanson KL, Domchek SM, Offitt K, Jakubowska A, Lindor N, Thomassen M, Jensen UB, Rantala J, Borg Å, Andrulis IL, Miron A, Hansen TV, Caldes T, Neuhausen SL, Toland AE, Nevanlinna H, Montagna M, Garber J, Godwin AK, Osorio A, Factor RE, Terry MB, Rebbeck TR, Karlan BY, Southey M, Rashid MU, Tung N, Pharoah PD, Blows FM, Dunning AM, Provenzano E, Hall P, Czene K, Schmidt MK, Broeks A, Cornelissen S, Verhoef S, Fasching PA, Beckmann MW, Ekici AB, Slamon DJ, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Aittomäki K, Muranen TA, Heikkilä P, Blomqvist C, Figueroa J, Chanock SJ, Brinton L, Lissowska J, Olson JE, Pankratz VS, John EM, Whittemore AS, West DW, Hamann U, Torres D, Ulmer HU, Rüdiger T, Devilee P, Tollenaar RA, Seynaeve C, Van Asperen CJ, Eccles DM, Tapper WJ, Durcan L, Jones L, Peto J, dos-Santos-Silva I, Fletcher O, Johnson N, Dwek M, Swann R, Bane AL, Glendon G, Mulligan AM, Giles GG, Milne RL, Baglietto L, McLean C, Carpenter J, Clarke C, Scott R, Brauch H, Brüning T, Ko YD, Cox A, Cross SS, Reed MW, Lubinski J, Jaworska-Bieniek K, Durda K, Gronwald J, Dörk T, Bogdanova N, Park-Simon TW, Hillemanns P, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Burwinkel B, Marme F, Surovy H, Yang R, Anton-Culver H, Ziogas A, Hooning MJ, Collée JM, Martens JW, Tilanus-Linthorst MM, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Lindblom A, Margolin S, Joseph V, Robson M, Rau-Murthy R, González-Neira A, Arias JI, Zamora P, Benítez J, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Peterlongo P, Zaffaroni D, Barile M, Capra F, Radice P, Teo SH, Easton DF, Antoniou AC, Chenevix-Trench G, and Goldgar DE
Subjects: Adult, Age Factors, Aged, Breast Neoplasms metabolism, Breast Neoplasms pathology, Carcinoma metabolism, Carcinoma pathology, Female, Humans, Likelihood Functions, Middle Aged, Mutation, Neoplasm Grading, Neoplasm Staging, Receptor, ErbB-2 metabolism, Receptors, Estrogen metabolism, Receptors, Progesterone metabolism, Triple Negative Breast Neoplasms metabolism, Triple Negative Breast Neoplasms pathology, Breast Neoplasms genetics, Carcinoma genetics, Genes, BRCA1, Genes, BRCA2, Triple Negative Breast Neoplasms genetics
Abstract: Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling., Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of mutation status by histopathological markers were derived using a Mantel-Haenszel approach., Results: ER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3 phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3 features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years or older (LR = 1.79 (1.42 to 2.24))., Conclusions: These results refine likelihood-ratio estimates for predicting BRCA1 and BRCA2 mutation status by using commonly measured histopathological features. Age at diagnosis is an important variable for most analyses, and grade is more informative than ER status for BRCA2 mutation carrier prediction. The estimates will improve BRCA1 and BRCA2 variant classification and inform patient mutation testing and clinical management.
Published: 2014
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27 results on '"Mulligan, Anna M."'

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14. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

15. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

16. Identification of New Genetic Susceptibility Loci for Breast Cancer Through Consideration of Gene‐Environment Interactions

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18. Arteriovenous Fistulas for Hemodialysis: Application of High-Frequency US to Assess Vein Wall Morphology for Cannulation Readiness

19. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

20. Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

21. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

22. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

23. Refined histopathological predictors of BRCA1 and BRCA2 mutation status : a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

24. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

25. Genetic insights into biological mechanisms governing human ovarian ageing.

26. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

27. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

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