Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Autor: Christopher A Maxwell, Javier Benítez, Laia Gómez-Baldó, Ana Osorio, Núria Bonifaci, Ricardo Fernández-Ramires, Sylvain V Costes, Elisabet Guinó, Helen Chen, Gareth J R Evans, Pooja Mohan, Isabel Català, Anna Petit, Helena Aguilar, Alberto Villanueva, Alvaro Aytes, Jordi Serra-Musach, Gad Rennert, Flavio Lejbkowicz, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Carla B Ripamonti, Bernardo Bonanni, Alessandra Viel, Anna Allavena, Loris Bernard, Paolo Radice, Eitan Friedman, Bella Kaufman, Yael Laitman, Maya Dubrovsky, Roni Milgrom, Anna Jakubowska, Cezary Cybulski, Bohdan Gorski, Katarzyna Jaworska, Katarzyna Durda, Grzegorz Sukiennicki, Jan Lubiński, Yin Yao Shugart, Susan M Domchek, Richard Letrero, Barbara L Weber, Frans B L Hogervorst, Matti A Rookus, J Margriet Collee, Peter Devilee, Marjolijn J Ligtenberg, Rob B van der Luijt, Cora M Aalfs, Quinten Waisfisz, Juul Wijnen, Cornelis E P van Roozendaal, HEBON, EMBRACE, Douglas F Easton, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Patricia Harrington, D Gareth Evans, Fiona Lalloo, Rosalind Eeles, Louise Izatt, Carol Chu, Diana Eccles, Fiona Douglas, Carole Brewer, Heli Nevanlinna, Tuomas Heikkinen, Fergus J Couch, Noralane M Lindor, Xianshu Wang, Andrew K Godwin, Maria A Caligo, Grazia Lombardi, Niklas Loman, Per Karlsson, Hans Ehrencrona, Anna von Wachenfeldt, SWE-BRCA, Rosa Bjork Barkardottir, Ute Hamann, Muhammad U Rashid, Adriana Lasa, Trinidad Caldés, Raquel Andrés, Michael Schmitt, Volker Assmann, Kristen Stevens, Kenneth Offit, João Curado, Hagen Tilgner, Roderic Guigó, Gemma Aiza, Joan Brunet, Joan Castellsagué, Griselda Martrat, Ander Urruticoechea, Ignacio Blanco, Laima Tihomirova, David E Goldgar, Saundra Buys, Esther M John, Alexander Miron, Melissa Southey, Mary B Daly, BCFR, Rita K Schmutzler, Barbara Wappenschmidt, Alfons Meindl, Norbert Arnold, Helmut Deissler, Raymonda Varon-Mateeva, Christian Sutter, Dieter Niederacher, Evgeny Imyamitov, Olga M Sinilnikova, Dominique Stoppa-Lyonne, Sylvie Mazoyer, Carole Verny-Pierre, Laurent Castera, Antoine de Pauw, Yves-Jean Bignon, Nancy Uhrhammer, Jean-Philippe Peyrat, Philippe Vennin, Sandra Fert Ferrer, Marie-Agnès Collonge-Rame, Isabelle Mortemousque, GEMO Study Collaborators, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Sue Healey, kConFab, Mary Helen Barcellos-Hoff, Marc Vidal, Stephen B Gruber, Conxi Lázaro, Gabriel Capellá, Lesley McGuffog, Katherine L Nathanson, Antonis C Antoniou, Georgia Chenevix-Trench, Markus C Fleisch, Víctor Moreno, Miguel Angel Pujana

Publikováno v: PLoS Biology, Vol 9, Iss 11, p e1001199 (2011)

Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased ri

Externí odkaz: https://doaj.org/article/6b575e23a5b6401b9e491335b8001395

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

Autor: Stefanie H. Mueller, Alvina G. Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Annelie Augustinsson, Thais Baert, Laura E. Beane Freeman, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia V. Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Hermann Brenner, Sara Y. Brucker, Saundra S. Buys, Jose E. Castelao, Tsun L. Chan, Jenny Chang-Claude, Stephen J. Chanock, Ji-Yeob Choi, Wendy K. Chung, NBCS Collaborators, Sarah V. Colonna, CTS Consortium, Sten Cornelissen, Fergus J. Couch, Kamila Czene, Mary B. Daly, Peter Devilee, Thilo Dörk, Laure Dossus, Miriam Dwek, Diana M. Eccles, Arif B. Ekici, A. Heather Eliassen, Christoph Engel, D. Gareth Evans, Peter A. Fasching, Olivia Fletcher, Henrik Flyger, Manuela Gago-Dominguez, Yu-Tang Gao, Montserrat García-Closas, José A. García-Sáenz, Jeanine Genkinger, Aleksandra Gentry-Maharaj, Felix Grassmann, Pascal Guénel, Melanie Gündert, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Håkansson, Per Hall, Elaine F. Harkness, Patricia A. Harrington, Jaana M. Hartikainen, Mikael Hartman, Alexander Hein, Weang-Kee Ho, Maartje J. Hooning, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, David J. Hunter, Dezheng Huo, ABCTB Investigators, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M. John, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Daehee Kang, Elza K. Khusnutdinova, Sung-Won Kim, Cari M. Kitahara, Stella Koutros, Peter Kraft, Vessela N. Kristensen, Katerina Kubelka-Sabit, Allison W. Kurian, Ava Kwong, James V. Lacey, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Usha Menon, Kenneth Muir, Rachel A. Murphy, Heli Nevanlinna, William G. Newman, Dieter Niederacher, Katie M. O’Brien, Nadia Obi, Kenneth Offit, Olufunmilayo I. Olopade, Andrew F. Olshan, Håkan Olsson, Sue K. Park, Alpa V. Patel, Achal Patel, Charles M. Perou, Julian Peto, Paul D. P. Pharoah, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Paolo Radice, Dhanya Ramachandran, Muhammad U. Rashid, Gad Rennert, Atocha Romero, Kathryn J. Ruddy, Matthias Ruebner, Emmanouil Saloustros, Dale P. Sandler, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Michael O. Schneider, Christopher Scott, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Harald Surowy, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Soo Hwang Teo, Lauren R. Teras, Amanda E. Toland, Rob A. E. M. Tollenaar, Diana Torres, Gabriela Torres-Mejía, Melissa A. Troester, Thérèse Truong, Celine M. Vachon, Joseph Vijai, Clarice R. Weinberg, Camilla Wendt, Robert Winqvist, Alicja Wolk, Anna H. Wu, Taiki Yamaji, Xiaohong R. Yang, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, Alison M. Dunning, Douglas F. Easton, Harry Hemingway, Ute Hamann, Karoline B. Kuchenbaecker

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)

Abstract Background Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. Methods We evaluated the pot

Externí odkaz: https://doaj.org/article/44abb13c9f464a339579d4ae653343e9

Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Autor: Antonis C. Antoniou, Douglas F. Easton, Georgia Chenevix-Trench, Beth Karlan, Christine Walsh, Jenny Gross, Kate Nathanson, Simon A. Gayther, Lara Sucheston, Kunle Odunsi, Mary Beattie, Robert Nussbaum, Susan L. Neuhausen, Linda Steele, Karin Henriksson, Anna von Wachenfeld, Johanna Rantala, Paolo Aretini, Maria Caligo, Torben Kruse, Anne-Marie Gerdes, Mads Thomassen, Kevin Sweet, Leigha Senter, Amanda Ewart Toland, Evgeny Imyanitov, Anna Sokolenko, Mark H. Greene, Phuong L. Mai, Christine Rappaport, Muy-Kheng Tea, Christian F. Singer, Mia M. Gaudet, Rita Sakr, Kenneth Offit, Csilla Szabo, Noralane M. Lindor, Vernon S. Pankratz, Zachary Fredericksen, Xianshu Wang, Judy E. Garber, Nadine Tung, Wendy Rubinstein, Timothy R. Rebbeck, Stephen Fox, Max Yan, Emma D'Andrea, Simona Agata, Marco Montagna, Jacques Simard, Martine Dumont, Rosa B. Barkardottir, Adalgeir Arason, Bjarni A. Agnarsson, Joan Brunet, Conxi Lazaro, Ignacio Blanco, Kristiina Aittomäki, Päivi Heikkilä, Tuomas Heikkinen, Carmen Cañadas, Miguel de la Hoya, Trinidad Caldes, Beth N. Peshkin, Claudine Isaacs, Laure Barjhoux, Muriel Belotti, Dominique Stoppa-Lyonnet, Heidrun Gevensleben, Ines Schönbuchner, Raymonda Varon-Mateeva, Sabine Preisler-Adams, Doroteha Gadzicki, Helmut Deissler, Christian Sutter, Dieter Niederacher, Norbert Arnold, Karin Kast, Alfons Meindl, Barbara Wappenschmidt, Rita K. Schmutzler, Andrew K. Godwin, JoEllen Weaver, Catherine Houghton, Lucy E. Side, Mark T. Rogers, Lisa Walker, Carole Brewer, D. Gareth Evans, Debra Frost, Susan Peock, Rob B. van der Luijt, Mieke Kriege, Frans B. Hogervorst, Muhammad U. Rashid, Ute Hamann, Paolo Radice, Laura Ottini, Anna Laura Putignano, Riccardo Dolcetti, Barbara Pasini, Sara Volorio, Monica Barile, Bernard Peissel, Siranoush Manoukian, Javier Benítez, Alexandra Stavropoulou, Ana Osorio, Finn C. Nielsen, Thomas V. O. Hansen, Laima Tihomirova, Ramunas Janavicius, Esther M. John, Frances O'Malley, David Goldgar, Mary Beth Terry, Melissa C. Southey, Olga M. Sinilnikova, Sue Healey, Lesley McGuffog, Christoph Engel, Fergus J. Couch, Anna Marie Mulligan, Mark Sherman, Mark Robson, Amanda Spurdle, Susan J. Ramus, Heli Nevanlinna, Diana Eccles, Susan M. Domchek, Irene L. Andrulis, Daniel Barrowdale, Nasim Mavaddat

PDF file - 127K

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4433dad8020516dbf09c92d1765c74ec
https://doi.org/10.1158/1055-9965.22438447.v1

Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan

Autor: Noor Muhammad, Rida Sadaqat, Humaira Naeemi, Iqra Masood, Usman Hassan, Bushra Ijaz, Faisal Hanif, Aamir A. Syed, Muhammed A. Yusuf, Muhammad U. Rashid

Publikováno v: HPB : the official journal of the International Hepato Pancreato Biliary Association. 24(12)

Partner and localizer of BRCA2 (PALB2) is a pancreatic cancer (PC) susceptibility gene reported in Caucasians. However, limited data are available among Asians. We investigated the contribution of PALB2 germline variants to Pakistani PC patients.150

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2cdb6d1761639ea090cd5d2c07db239
https://pubmed.ncbi.nlm.nih.gov/36175305

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Autor: Haoyu, Zhang, Thomas U, Ahearn, Julie, Lecarpentier, Daniel, Barnes, Jonathan, Beesley, Guanghao, Qi, Xia, Jiang, Tracy A, O'Mara, Ni, Zhao, Manjeet K, Bolla, Alison M, Dunning, Joe, Dennis, Qin, Wang, Zumuruda Abu, Ful, Kristiina, Aittomäki, Irene L, Andrulis, Hoda, Anton-Culver, Volker, Arndt, Kristan J, Aronson, Banu K, Arun, Paul L, Auer, Jacopo, Azzollini, Daniel, Barrowdale, Heiko, Becher, Matthias W, Beckmann, Sabine, Behrens, Javier, Benitez, Marina, Bermisheva, Katarzyna, Bialkowska, Ana, Blanco, Carl, Blomqvist, Natalia V, Bogdanova, Stig E, Bojesen, Bernardo, Bonanni, Davide, Bondavalli, Ake, Borg, Hiltrud, Brauch, Hermann, Brenner, Ignacio, Briceno, Annegien, Broeks, Sara Y, Brucker, Thomas, Brüning, Barbara, Burwinkel, Saundra S, Buys, Helen, Byers, Trinidad, Caldés, Maria A, Caligo, Mariarosaria, Calvello, Daniele, Campa, Jose E, Castelao, Jenny, Chang-Claude, Stephen J, Chanock, Melissa, Christiaens, Hans, Christiansen, Wendy K, Chung, Kathleen B M, Claes, Christine L, Clarke, Sten, Cornelissen, Fergus J, Couch, Angela, Cox, Simon S, Cross, Kamila, Czene, Mary B, Daly, Peter, Devilee, Orland, Diez, Susan M, Domchek, Thilo, Dörk, Miriam, Dwek, Diana M, Eccles, Arif B, Ekici, D Gareth, Evans, Peter A, Fasching, Jonine, Figueroa, Lenka, Foretova, Florentia, Fostira, Eitan, Friedman, Debra, Frost, Manuela, Gago-Dominguez, Susan M, Gapstur, Judy, Garber, José A, García-Sáenz, Mia M, Gaudet, Simon A, Gayther, Graham G, Giles, Andrew K, Godwin, Mark S, Goldberg, David E, Goldgar, Anna, González-Neira, Mark H, Greene, Jacek, Gronwald, Pascal, Guénel, Lothar, Häberle, Eric, Hahnen, Christopher A, Haiman, Christopher R, Hake, Per, Hall, Ute, Hamann, Elaine F, Harkness, Bernadette A M, Heemskerk-Gerritsen, Peter, Hillemanns, Frans B L, Hogervorst, Bernd, Holleczek, Antoinette, Hollestelle, Maartje J, Hooning, Robert N, Hoover, John L, Hopper, Anthony, Howell, Hanna, Huebner, Peter J, Hulick, Evgeny N, Imyanitov, Claudine, Isaacs, Louise, Izatt, Agnes, Jager, Milena, Jakimovska, Anna, Jakubowska, Paul, James, Ramunas, Janavicius, Wolfgang, Janni, Esther M, John, Michael E, Jones, Audrey, Jung, Rudolf, Kaaks, Pooja Middha, Kapoor, Beth Y, Karlan, Renske, Keeman, Sofia, Khan, Elza, Khusnutdinova, Cari M, Kitahara, Yon-Dschun, Ko, Irene, Konstantopoulou, Linetta B, Koppert, Stella, Koutros, Vessela N, Kristensen, Anne-Vibeke, Laenkholm, Diether, Lambrechts, Susanna C, Larsson, Pierre, Laurent-Puig, Conxi, Lazaro, Emilija, Lazarova, Flavio, Lejbkowicz, Goska, Leslie, Fabienne, Lesueur, Annika, Lindblom, Jolanta, Lissowska, Wing-Yee, Lo, Jennifer T, Loud, Jan, Lubinski, Alicja, Lukomska, Robert J, MacInnis, Arto, Mannermaa, Mehdi, Manoochehri, Siranoush, Manoukian, Sara, Margolin, Maria Elena, Martinez, Laura, Matricardi, Lesley, McGuffog, Catriona, McLean, Noura, Mebirouk, Alfons, Meindl, Usha, Menon, Austin, Miller, Elvira, Mingazheva, Marco, Montagna, Anna Marie, Mulligan, Claire, Mulot, Taru A, Muranen, Katherine L, Nathanson, Susan L, Neuhausen, Heli, Nevanlinna, Patrick, Neven, William G, Newman, Finn C, Nielsen, Liene, Nikitina-Zake, Jesse, Nodora, Kenneth, Offit, Edith, Olah, Olufunmilayo I, Olopade, Håkan, Olsson, Nick, Orr, Laura, Papi, Janos, Papp, Tjoung-Won, Park-Simon, Michael T, Parsons, Bernard, Peissel, Ana, Peixoto, Beth, Peshkin, Paolo, Peterlongo, Julian, Peto, Kelly-Anne, Phillips, Marion, Piedmonte, Dijana, Plaseska-Karanfilska, Karolina, Prajzendanc, Ross, Prentice, Darya, Prokofyeva, Brigitte, Rack, Paolo, Radice, Susan J, Ramus, Johanna, Rantala, Muhammad U, Rashid, Gad, Rennert, Hedy S, Rennert, Harvey A, Risch, Atocha, Romero, Matti A, Rookus, Matthias, Rübner, Thomas, Rüdiger, Emmanouil, Saloustros, Sarah, Sampson, Dale P, Sandler, Elinor J, Sawyer, Maren T, Scheuner, Rita K, Schmutzler, Andreas, Schneeweiss, Minouk J, Schoemaker, Ben, Schöttker, Peter, Schürmann, Leigha, Senter, Priyanka, Sharma, Mark E, Sherman, Xiao-Ou, Shu, Christian F, Singer, Snezhana, Smichkoska, Penny, Soucy, Melissa C, Southey, John J, Spinelli, Jennifer, Stone, Dominique, Stoppa-Lyonnet, Anthony J, Swerdlow, Csilla I, Szabo, Rulla M, Tamimi, William J, Tapper, Jack A, Taylor, Manuel R, Teixeira, MaryBeth, Terry, Mads, Thomassen, Darcy L, Thull, Marc, Tischkowitz, Amanda E, Toland, Rob A E M, Tollenaar, Ian, Tomlinson, Diana, Torres, Melissa A, Troester, Thérèse, Truong, Nadine, Tung, Michael, Untch, Celine M, Vachon, Ans M W, van den Ouweland, Lizet E, van der Kolk, Elke M, van Veen, Elizabeth J, vanRensburg, Ana, Vega, Barbara, Wappenschmidt, Clarice R, Weinberg, Jeffrey N, Weitzel, Hans, Wildiers, Robert, Winqvist, Alicja, Wolk, Xiaohong R, Yang, Drakoulis, Yannoukakos, Wei, Zheng, Kristin K, Zorn, Roger L, Milne, Peter, Kraft, Jacques, Simard, Paul D P, Pharoah, Kyriaki, Michailidou, Antonis C, Antoniou, Marjanka K, Schmidt, Georgia, Chenevix-Trench, Douglas F, Easton, Nilanjan, Chatterjee, Montserrat, García-Closas

Publikováno v: Nature genetics

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1–3. To identify novel loci, we performed a genome-wide association study (GWAS) including 133,384 breast cancer cases and 113,789 controls, plus 18

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::654468431a953011943bc0d124fa5594
https://pubmed.ncbi.nlm.nih.gov/32424353