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3. Genome-wide association study identifies novel breast cancer susceptibility loci

Author

Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D. P., Thompson, Deborah, Ballinger, Dennis G., Struewing, Jeffery P., Morrison, Jonathan, Field, Helen, Luben, Robert, Wareham, Nicholas, Ahmed, Shahana, Healey, Catherine S., Bowman, Richard, Luccarini, Craig, Conroy, Don, Shah, Mitul, Munday, Hannah, Jordan, Clare, Perkins, Barbara, West, Judy, Redman, Karen, Driver, Kristy, Meyer, Kerstin B., Haiman, Christopher A., Kolonel, Laurence K., Henderson, Brian E., Le Marchand, Loic, Brennan, Paul, Sangrajrang, Suleeporn, Gaborieau, Valerie, Odefrey, Fabrice, Shen, Chen-Yang, Wu, Pei-Ei, Wang, Hui-Chun, Eccles, Diana, Evans, D. Gareth, Peto, Julian, Fletcher, Olivia, Johnson, Nichola, Seal, Sheila, Stratton, Michael R., Rahman, Nazneen, Chenevix-Trench, Georgia, Bojesen, Stig E., Nordestgaard, Borge G., Axelsson, Christen K., Garcia-Closas, Montserrat, Brinton, Louise, Chanock, Stephen, Lissowska, Jolanta, Peplonska, Beata, Nevanlinna, Heli, Fagerholm, Rainer, Eerola, Hannaleena, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Hunter, David J., Hankinson, Susan E., Cox, David G., Hall, Per, Wedren, Sara, Liu, Jianjun, Low, Yen-Ling, Bogdanova, Natalia, Schurmann, Peter, Dork, Thilo, Tollenaar, Rob A. E. M., Jacobi, Catharina E., Devilee, Peter, Klijn, Jan G. M., Sigurdson, Alice J., Doody, Michele M., Alexander, Bruce H., Zhang, Jinghui, Cox, Angela, Brock, Ian W., MacPherson, Gordon, Reed, Malcolm W. R., Couch, Fergus J., Goode, Ellen L., Olson, Janet E., Meijers-Heijboer, Hanne, van den Ouweland, Ans, Uitterlinden, Andre, Rivadeneira, Fernando, Milne, Roger L., Ribas, Gloria, Gonzalez-Neira, Anna, Benitez, Javier, Hopper, John L., McCredie, Margaret, Southey, Melissa, Giles, Graham G., Schroen, Chris, Justenhoven, Christina, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Aghmesheh, Morteza, Amor, David, Andrews, Lesley, Antill, Yoland, Armes, Jane, Armitage, Shane, Arnold, Leanne, Balleine, Rosemary, Begley, Glenn, Beilby, John, Bennett, Ian, Bennett, Barbara, Berry, Geoffrey, Blackburn, Anneke, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Byron, Keith, Callen, David, Campbell, Ian, Clarke, Christine, Colley, Alison, Cotton, Dick, Cui, Jisheng, Culling, Bronwyn, Cummings, Margaret, Dawson, Sarah-Jane, Dixon, Joanne, Dobrovic, Alexander, Dudding, Tracy, Edkins, Ted, Eisenbruch, Maurice, Farshid, Gelareh, Fawcett, Susan, Field, Michael, Firgaira, Frank, Fleming, Jean, Forbes, John, Friedlander, Michael, Gaff, Clara, Gardner, Mac, Gattas, Mike, George, Peter, Giles, Graham, Gill, Grantley, Goldblatt, Jack, Greening, Sian, Grist, Scott, Haan, Eric, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Humphrey, Evelyn, Jenkins, Mark, Jones, Alison, Kefford, Rick, Kirk, Judy, Kollias, James, Kovalenko, Sergey, Lakhani, Sunil, Leary, Jennifer, Lim, Jacqueline, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Maclurcan, Mariette, Mann, Graham, Marsh, Deborah, McKay, Michael, Anne McLachlan, Sue, Meiser, Bettina, Milne, Roger, Mitchell, Gillian, Newman, Beth, O'Loughlin, Imelda, Osborne, Richard, Peters, Lester, Phillips, Kelly, Price, Melanie, Reeve, Jeanne, Reeve, Tony, Richards, Robert, Rinehart, Gina, Robinson, Bridget, Rudzki, Barney, Salisbury, Elizabeth, Sambrook, Joe, Saunders, Christobel, Scott, Clare, Scott, Elizabeth, Scott, Rodney, Seshadri, Ram, Shelling, Andrew, Spurdle, Amanda, Suthers, Graeme, Taylor, Donna, Tennant, Christopher, Thorne, Heather, Townshend, Sharron, Tucker, Kathy, Tyler, Janet, Venter, Deon, Visvader, Jane, Walpole, Ian, Ward, Robin, Waring, Paul, Warner, Bev, Warren, Graham, Watson, Elizabeth, Williams, Rachael, Wilson, Judy, Winship, Ingrid, Young, Mary Ann, Bowtell, David, Green, Adele, deFazio, Anna, Gertig, Dorota, Webb, Penny, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Hartikainen, Jaana, Day, Nicholas E., Cox, David R., and Ponder, Bruce A. J.

Subjects
Genetic susceptibility -- Research -- Genetic aspects, Breast cancer -- Genetic aspects -- Risk factors -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation, Genetic aspects, Research, Risk factors
Abstract

Author(s): Douglas F. Easton (corresponding author) [1]; Karen A. Pooley [2]; Alison M. Dunning [2]; Paul D. P. Pharoah [2]; Deborah Thompson [1]; Dennis G. Ballinger [3]; Jeffery P. Struewing [...]

Published
2007
Full Text
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4. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Author

Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Viz Lasheras, Sandra, Pujol, Roser, Kiiski, Johanna, I, Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomaki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Paivi, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Freeman, Laura E. Beane, Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guenel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, III, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Angel Pujana, Miquel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamarina, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A. E. M., Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van Rensburg, Elizabeth J., van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Doerk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surralles, Jordi, Peterlongo, Paolo, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Belotti, Muriel, Bertrand, Ophelie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine, Dupre, Anais, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Le Mentec, Marine, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Mlanie, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Nogues, Catherine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Pujol, Pascal, Adenis, Claude, Dumont, Aurelie, Revillion, Francoise, Muller, Daniele, Barouk-Simonet, Emmanuelle, Bonnet, Francoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Helene, Leroux, Christine Dominique, Peysselon, Magalie, Rebischung, Christine, Legrand, Clementine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Jacquot, Caroline, Lizard, Sarab, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Vronique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Mortemousque, Isabelle, Colas, Chrystelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Sokolowska, Johanna, Collonge-Rame, Marie-Agnes, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Aghmesheh, Morteza, Greening, Sian, Amor, David, Gattas, Mike, Botes, Leon, Buckley, Michael, Friedlander, Michael, Koehler, Jessica, Meiser, Bettina, Saleh, Mona, Salisbury, Elizabeth, Trainer, Alison, Tucker, Kathy, Antill, Yoland, Dobrovic, Alexander, Fellows, Andrew, Fox, Stephen, Harris, Marion, Nightingale, Sophie, Phillips, Kelly, Sambrook, Joe, Thorne, Heather, Armitage, Shane, Arnold, Leanne, Kefford, Rick, Kirk, Judy, Rickard, Edwina, Bastick, Patti, Beesley, Jonathan, Hayward, Nick, Spurdle, Amanda, Walker, Logan, Beilby, John, Saunders, Christobel, Bennett, Ian, Blackburn, Anneke, Bogwitz, Michael, Gaff, Clara, Lindeman, Geoff, Pachter, Nick, Scott, Clare, Sexton, Adrienne, Visvader, Jane, Taylor, Jessica, Winship, Ingrid, Brennan, Meagan, Brown, Melissa, French, Juliet, Edwards, Stacey, Burgess, Matthew, Burke, Jo, Patterson, Briony, Butow, Phyllis, Culling, Bronwyn, Caldon, Liz, Callen, David, Chauhan, Deepa, Eisenbruch, Maurice, Heiniger, Louise, Chauhan, Manisha, Christian, Alice, Dixon, Joanne, Kidd, Alexa, Cohen, Paul, Colley, Alison, Fenton, Georgina, Crook, Ashley, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James, Fong, Peter, Forrest, Laura, Gallego-Ortega, David, George, Peter, Gill, Grantley, Kollias, James, Haan, Eric, Hart, Stewart, Jenkins, Mark, Hunt, Clare, Lakhani, Sunil, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, O'Connell, Shona, O'Sullivan, Sarah, Pieper, Ellen, Robinson, Bridget, Saunus, Jodi, Scott, Elizabeth, Shelling, Andrew, Williams, Rachael, Young, Mary Ann, Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Viz Lasheras, Sandra, Pujol, Roser, Kiiski, Johanna, I, Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomaki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Paivi, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Freeman, Laura E. Beane, Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guenel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, III, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Angel Pujana, Miquel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamarina, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A. E. M., Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van Rensburg, Elizabeth J., van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Doerk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surralles, Jordi, Peterlongo, Paolo, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Belotti, Muriel, Bertrand, Ophelie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine, Dupre, Anais, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Le Mentec, Marine, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Mlanie, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Nogues, Catherine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Pujol, Pascal, Adenis, Claude, Dumont, Aurelie, Revillion, Francoise, Muller, Daniele, Barouk-Simonet, Emmanuelle, Bonnet, Francoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Helene, Leroux, Christine Dominique, Peysselon, Magalie, Rebischung, Christine, Legrand, Clementine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Jacquot, Caroline, Lizard, Sarab, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Vronique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Mortemousque, Isabelle, Colas, Chrystelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Sokolowska, Johanna, Collonge-Rame, Marie-Agnes, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Aghmesheh, Morteza, Greening, Sian, Amor, David, Gattas, Mike, Botes, Leon, Buckley, Michael, Friedlander, Michael, Koehler, Jessica, Meiser, Bettina, Saleh, Mona, Salisbury, Elizabeth, Trainer, Alison, Tucker, Kathy, Antill, Yoland, Dobrovic, Alexander, Fellows, Andrew, Fox, Stephen, Harris, Marion, Nightingale, Sophie, Phillips, Kelly, Sambrook, Joe, Thorne, Heather, Armitage, Shane, Arnold, Leanne, Kefford, Rick, Kirk, Judy, Rickard, Edwina, Bastick, Patti, Beesley, Jonathan, Hayward, Nick, Spurdle, Amanda, Walker, Logan, Beilby, John, Saunders, Christobel, Bennett, Ian, Blackburn, Anneke, Bogwitz, Michael, Gaff, Clara, Lindeman, Geoff, Pachter, Nick, Scott, Clare, Sexton, Adrienne, Visvader, Jane, Taylor, Jessica, Winship, Ingrid, Brennan, Meagan, Brown, Melissa, French, Juliet, Edwards, Stacey, Burgess, Matthew, Burke, Jo, Patterson, Briony, Butow, Phyllis, Culling, Bronwyn, Caldon, Liz, Callen, David, Chauhan, Deepa, Eisenbruch, Maurice, Heiniger, Louise, Chauhan, Manisha, Christian, Alice, Dixon, Joanne, Kidd, Alexa, Cohen, Paul, Colley, Alison, Fenton, Georgina, Crook, Ashley, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James, Fong, Peter, Forrest, Laura, Gallego-Ortega, David, George, Peter, Gill, Grantley, Kollias, James, Haan, Eric, Hart, Stewart, Jenkins, Mark, Hunt, Clare, Lakhani, Sunil, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, O'Connell, Shona, O'Sullivan, Sarah, Pieper, Ellen, Robinson, Bridget, Saunus, Jodi, Scott, Elizabeth, Shelling, Andrew, Williams, Rachael, and Young, Mary Ann

Abstract

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PAM, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and pArg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM(-/-) patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.

Published
2019

5. Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

Author

Sobral-Leite, Marcelo, Wesseling, Jelle, Smit, Vincent T H B M, Nevanlinna, Heli, van Miltenburg, Martine H., Sanders, Joyce, Hofland, Ingrid, Blows, Fiona M., Coulson, Penny, Patrycja, Gazinska, Schellens, Jan H M, Fagerholm, Rainer, Heikkilä, Päivi, Aittomäki, Kristiina, Blomqvist, Carl, Provenzano, Elena, Ali, Hamid Raza, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Phillips, Kelly Anne, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Visscher, Daniel, Brenner, Hermann, Butterbach, Katja, Arndt, Volker, Holleczek, Bernd, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W M, van Deurzen, Carolien H M, van de Water, Bob, Broeks, Annegien, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Easton, Douglas F., Pharoah, Paul D P, García-Closas, Montserrat, de Graauw, Marjo, Schmidt, Marjanka K., Aghmesheh, Morteza, Amor, David, Andrews, Lesley, Antill, Yoland, Armitage, Shane, Arnold, Leanne, Balleine, Rosemary, Bankier, Agnes, Bastick, Patti, Beesley, Jonathan, Beilby, John, Bennett, Barbara, Bennett, Ian, Berry, Geoffrey, Blackburn, Anneke, Bogwitz, Michael, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burgess, Matthew, Burke, Jo, Butow, Phyllis, Byron, Keith, Callen, David, Campbell, Ian, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Clarke, Christine, Colley, Alison, Cotton, Dick, Crook, Ashley, Cui, James, Culling, Bronwyn, Cummings, Margaret, Dawson, Sarah Jane, deFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Dobrovic, Alexander, Dudding, Tracy, Edkins, Ted, Edwards, Stacey, Eisenbruch, Maurice, Farshid, Gelareh, Fawcett, Susan, Fellows, Andrew, Fenton, Georgina, Field, Michael, Firgaira, Frank, Flanagan, James, Fleming, Jean, Fong, Peter, Forbes, John, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gardner, Mac, Gattas, Mike, George, Peter, Giles, Graham, Gill, Grantley, Goldblatt, Jack, Greening, Sian, Grist, Scott, Haan, Eric, Hardie, Kate, Harris, Marion, Hart, Stewart, Hayward, Nick, Healey, Sue, Heiniger, Louise, Hopper, John, Humphrey, Evelyn, Hunt, Clare, James, Paul, Jenkins, Mark, Jones, Alison, Kefford, Rick, Kidd, Alexa, Kiely, Belinda, Kirk, Judy, Koehler, Jessica, Kollias, James, Kovalenko, Serguei, Lakhani, Sunil, Leaming, Amanda, Leary, Jennifer, Lim, Jacqueline, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Meldrum, Cliff, Milne, Roger, Mitchell, Gillian, Newman, Beth, Niedermayr, Eveline, Nightingale, Sophie, O'Connell, Shona, O'Loughlin, Imelda, Osborne, Richard, Pachter, Nick, Patterson, Briony, Peters, Lester, Phillips, Kelly, Price, Melanie, Purser, Lynne, Reeve, Tony, Reeve, Jeanne, Richards, Robert, Rickard, Edwina, Robinson, Bridget, Rudzki, Barney, Saleh, Mona, Salisbury, Elizabeth, Sambrook, Joe, Saunders, Christobel, Saunus, Jodi, Sayer, Robyn, Scott, Elizabeth, Scott, Rodney, Scott, Clare, Seshadri, Ram, Sexton, Adrienne, Sharma, Raghwa, Shelling, Andrew, Simpson, Peter, Southey, Melissa, Spurdle, Amanda, Suthers, Graeme, Sykes, Pamela, Tassell, Margaret, Taylor, Donna, Taylor, Jessica, Thierry, Benjamin, Thomas, Susan, Thompson, Ella, Thorne, Heather, Townshend, Sharron, Trainer, Alison, Tran, Lan, Tucker, Kathy, Tyler, Janet, Visvader, Jane, Walker, Logan, Walpole, Ian, Ward, Robin, Waring, Paul, Warner, Bev, Warren, Graham, Williams, Rachael, Wilson, Judy, Winship, Ingrid, Wu, Kathy, Young, Mary Ann, Bowtell, D., Green, A., Webb, P., de Fazio, A., Gertig, D., Pharmacoepidemiology and Clinical Pharmacology, Sub Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, and Sub Clinical Pharmacology

Subjects
Medicine(all), endocrine system, Breast cancer, skin and connective tissue diseases, Annexin A1, BRCA1 and BRCA2 mutations
Abstract

Background: Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the prognostic value of ANXA1 in breast cancer. The purpose of this study is to evaluate the association between ANXA1 expression, BRCA1/2 germline carriership, specific tumor subtypes and survival in breast cancer patients. Methods: Clinical-pathological information and follow-up data were collected from nine breast cancer studies from the Breast Cancer Association Consortium (BCAC) (n = 5,752) and from one study of familial breast cancer patients with BRCA1/2

Published
2015

6. Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

Author

Pharmacoepidemiology and Clinical Pharmacology, Sub Clinical Pharmacology, Sobral-Leite, Marcelo, Wesseling, Jelle, Smit, Vincent T H B M, Nevanlinna, Heli, van Miltenburg, Martine H., Sanders, Joyce, Hofland, Ingrid, Blows, Fiona M., Coulson, Penny, Patrycja, Gazinska, Schellens, Jan H M, Fagerholm, Rainer, Heikkilä, Päivi, Aittomäki, Kristiina, Blomqvist, Carl, Provenzano, Elena, Ali, Hamid Raza, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Phillips, Kelly Anne, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Visscher, Daniel, Brenner, Hermann, Butterbach, Katja, Arndt, Volker, Holleczek, Bernd, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W M, van Deurzen, Carolien H M, van de Water, Bob, Broeks, Annegien, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Easton, Douglas F., Pharoah, Paul D P, García-Closas, Montserrat, de Graauw, Marjo, Schmidt, Marjanka K., Aghmesheh, Morteza, Amor, David, Andrews, Lesley, Antill, Yoland, Armitage, Shane, Arnold, Leanne, Balleine, Rosemary, Bankier, Agnes, Bastick, Patti, Beesley, Jonathan, Beilby, John, Bennett, Barbara, Bennett, Ian, Berry, Geoffrey, Blackburn, Anneke, Bogwitz, Michael, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burgess, Matthew, Burke, Jo, Butow, Phyllis, Byron, Keith, Callen, David, Campbell, Ian, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Clarke, Christine, Colley, Alison, Cotton, Dick, Crook, Ashley, Cui, James, Culling, Bronwyn, Cummings, Margaret, Dawson, Sarah Jane, deFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Dobrovic, Alexander, Dudding, Tracy, Edkins, Ted, Edwards, Stacey, Eisenbruch, Maurice, Farshid, Gelareh, Fawcett, Susan, Fellows, Andrew, Fenton, Georgina, Field, Michael, Firgaira, Frank, Flanagan, James, Fleming, Jean, Fong, Peter, Forbes, John, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gardner, Mac, Gattas, Mike, George, Peter, Giles, Graham, Gill, Grantley, Goldblatt, Jack, Greening, Sian, Grist, Scott, Haan, Eric, Hardie, Kate, Harris, Marion, Hart, Stewart, Hayward, Nick, Healey, Sue, Heiniger, Louise, Hopper, John, Humphrey, Evelyn, Hunt, Clare, James, Paul, Jenkins, Mark, Jones, Alison, Kefford, Rick, Kidd, Alexa, Kiely, Belinda, Kirk, Judy, Koehler, Jessica, Kollias, James, Kovalenko, Serguei, Lakhani, Sunil, Leaming, Amanda, Leary, Jennifer, Lim, Jacqueline, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Meldrum, Cliff, Milne, Roger, Mitchell, Gillian, Newman, Beth, Niedermayr, Eveline, Nightingale, Sophie, O'Connell, Shona, O'Loughlin, Imelda, Osborne, Richard, Pachter, Nick, Patterson, Briony, Peters, Lester, Phillips, Kelly, Price, Melanie, Purser, Lynne, Reeve, Tony, Reeve, Jeanne, Richards, Robert, Rickard, Edwina, Robinson, Bridget, Rudzki, Barney, Saleh, Mona, Salisbury, Elizabeth, Sambrook, Joe, Saunders, Christobel, Saunus, Jodi, Sayer, Robyn, Scott, Elizabeth, Scott, Rodney, Scott, Clare, Seshadri, Ram, Sexton, Adrienne, Sharma, Raghwa, Shelling, Andrew, Simpson, Peter, Southey, Melissa, Spurdle, Amanda, Suthers, Graeme, Sykes, Pamela, Tassell, Margaret, Taylor, Donna, Taylor, Jessica, Thierry, Benjamin, Thomas, Susan, Thompson, Ella, Thorne, Heather, Townshend, Sharron, Trainer, Alison, Tran, Lan, Tucker, Kathy, Tyler, Janet, Visvader, Jane, Walker, Logan, Walpole, Ian, Ward, Robin, Waring, Paul, Warner, Bev, Warren, Graham, Williams, Rachael, Wilson, Judy, Winship, Ingrid, Wu, Kathy, Young, Mary Ann, Bowtell, D., Green, A., Webb, P., de Fazio, A., Gertig, D., Pharmacoepidemiology and Clinical Pharmacology, Sub Clinical Pharmacology, Sobral-Leite, Marcelo, Wesseling, Jelle, Smit, Vincent T H B M, Nevanlinna, Heli, van Miltenburg, Martine H., Sanders, Joyce, Hofland, Ingrid, Blows, Fiona M., Coulson, Penny, Patrycja, Gazinska, Schellens, Jan H M, Fagerholm, Rainer, Heikkilä, Päivi, Aittomäki, Kristiina, Blomqvist, Carl, Provenzano, Elena, Ali, Hamid Raza, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Phillips, Kelly Anne, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Visscher, Daniel, Brenner, Hermann, Butterbach, Katja, Arndt, Volker, Holleczek, Bernd, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W M, van Deurzen, Carolien H M, van de Water, Bob, Broeks, Annegien, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Easton, Douglas F., Pharoah, Paul D P, García-Closas, Montserrat, de Graauw, Marjo, Schmidt, Marjanka K., Aghmesheh, Morteza, Amor, David, Andrews, Lesley, Antill, Yoland, Armitage, Shane, Arnold, Leanne, Balleine, Rosemary, Bankier, Agnes, Bastick, Patti, Beesley, Jonathan, Beilby, John, Bennett, Barbara, Bennett, Ian, Berry, Geoffrey, Blackburn, Anneke, Bogwitz, Michael, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burgess, Matthew, Burke, Jo, Butow, Phyllis, Byron, Keith, Callen, David, Campbell, Ian, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Clarke, Christine, Colley, Alison, Cotton, Dick, Crook, Ashley, Cui, James, Culling, Bronwyn, Cummings, Margaret, Dawson, Sarah Jane, deFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Dobrovic, Alexander, Dudding, Tracy, Edkins, Ted, Edwards, Stacey, Eisenbruch, Maurice, Farshid, Gelareh, Fawcett, Susan, Fellows, Andrew, Fenton, Georgina, Field, Michael, Firgaira, Frank, Flanagan, James, Fleming, Jean, Fong, Peter, Forbes, John, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gardner, Mac, Gattas, Mike, George, Peter, Giles, Graham, Gill, Grantley, Goldblatt, Jack, Greening, Sian, Grist, Scott, Haan, Eric, Hardie, Kate, Harris, Marion, Hart, Stewart, Hayward, Nick, Healey, Sue, Heiniger, Louise, Hopper, John, Humphrey, Evelyn, Hunt, Clare, James, Paul, Jenkins, Mark, Jones, Alison, Kefford, Rick, Kidd, Alexa, Kiely, Belinda, Kirk, Judy, Koehler, Jessica, Kollias, James, Kovalenko, Serguei, Lakhani, Sunil, Leaming, Amanda, Leary, Jennifer, Lim, Jacqueline, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Meldrum, Cliff, Milne, Roger, Mitchell, Gillian, Newman, Beth, Niedermayr, Eveline, Nightingale, Sophie, O'Connell, Shona, O'Loughlin, Imelda, Osborne, Richard, Pachter, Nick, Patterson, Briony, Peters, Lester, Phillips, Kelly, Price, Melanie, Purser, Lynne, Reeve, Tony, Reeve, Jeanne, Richards, Robert, Rickard, Edwina, Robinson, Bridget, Rudzki, Barney, Saleh, Mona, Salisbury, Elizabeth, Sambrook, Joe, Saunders, Christobel, Saunus, Jodi, Sayer, Robyn, Scott, Elizabeth, Scott, Rodney, Scott, Clare, Seshadri, Ram, Sexton, Adrienne, Sharma, Raghwa, Shelling, Andrew, Simpson, Peter, Southey, Melissa, Spurdle, Amanda, Suthers, Graeme, Sykes, Pamela, Tassell, Margaret, Taylor, Donna, Taylor, Jessica, Thierry, Benjamin, Thomas, Susan, Thompson, Ella, Thorne, Heather, Townshend, Sharron, Trainer, Alison, Tran, Lan, Tucker, Kathy, Tyler, Janet, Visvader, Jane, Walker, Logan, Walpole, Ian, Ward, Robin, Waring, Paul, Warner, Bev, Warren, Graham, Williams, Rachael, Wilson, Judy, Winship, Ingrid, Wu, Kathy, Young, Mary Ann, Bowtell, D., Green, A., Webb, P., de Fazio, A., and Gertig, D.

Published
2015

7. Breast cancer risk is not increased in individuals withTWIST1mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study

Author

James, Paul A., primary, Culling, Bronwyn, additional, Mullan, Glenda, additional, Jenkins, Mark, additional, Elakis, George, additional, Turner, Anne M., additional, Mowat, David M., additional, Wilson, Meredith, additional, Anderson, Peter, additional, Savarirayan, Ravi, additional, Cliffe, Simon T., additional, Caramins, Melody, additional, Buckley, Michael F., additional, Tucker, Kathy, additional, and Roscioli, Tony, additional

Published
2009
Full Text
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11. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Author

Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Lasheras, Sandra Viz, Pujol, Roser, Kiiski, Johanna I., Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E., Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., De La Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., Dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guénel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamariña, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A.E.M., Torres, Diana, Troester, Melissa A., Truong, Thérèse, Tung, Nadine, Untch, Michael, Vachon, Celine M., Van Rensburg, Elizabeth J., Van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Dörk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surrallés, Jordi, Peterlongo, Paolo, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Belotti, Muriel, Bertrand, Ophélie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine, Dupré, Anaïs, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Le Mentec, Marine, Moncoutier, Virginie, De Pauw, Antoine, Saule, Claire, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Léone, Mélanie, Bressac-De-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valérie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Noguès, Catherine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Pujol, Pascal, Adenis, Claude, Dumont, Aurélie, Révillion, Françoise, Muller, Danièle, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Hélène, Leroux, Christine Dominique, Peysselon, Magalie, Rebischung, Christine, Legrand, Clémentine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Jacquot, Caroline, Lizard, Sarab, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Véronique, Vénat-Bouvet, Laurence, Bézieau, Stéphane, Delnatte, Capucine, Mortemousque, Isabelle, Colas, Chrystelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Sokolowska, Johanna, Collonge-Rame, Marie-Agnès, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Aghmesheh, Morteza, Greening, Sian, Amor, David, Gattas, Mike, Botes, Leon, Buckley, Michael, Friedlander, Michael, Koehler, Jessica, Meiser, Bettina, Saleh, Mona, Salisbury, Elizabeth, Trainer, Alison, Tucker, Kathy, Antill, Yoland, Dobrovic, Alexander, Fellows, Andrew, Fox, Stephen, Harris, Marion, Nightingale, Sophie, Phillips, Kelly, Sambrook, Joe, Thorne, Heather, Armitage, Shane, Arnold, Leanne, Kefford, Rick, Kirk, Judy, Rickard, Edwina, Bastick, Patti, Beesley, Jonathan, Hayward, Nick, Spurdle, Amanda, Walker, Logan, Beilby, John, Saunders, Christobel, Bennett, Ian, Blackburn, Anneke, Bogwitz, Michael, Gaff, Clara, Lindeman, Geoff, Pachter, Nick, Scott, Clare, Sexton, Adrienne, Visvader, Jane, Taylor, Jessica, Winship, Ingrid, Brennan, Meagan, Brown, Melissa, French, Juliet, Edwards, Stacey, Burgess, Matthew, Burke, Jo, Patterson, Briony, Butow, Phyllis, Culling, Bronwyn, Caldon, Liz, Callen, David, Chauhan, Deepa, Eisenbruch, Maurice, Heiniger, Louise, Chauhan, Manisha, Christian, Alice, Dixon, Joanne, Kidd, Alexa, Cohen, Paul, Colley, Alison, Fenton, Georgina, Crook, Ashley, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James, Fong, Peter, Forrest, Laura, Gallego-Ortega, David, George, Peter, Gill, Grantley, Kollias, James, Haan, Eric, Hart, Stewart, Jenkins, Mark, Hunt, Clare, Lakhani, Sunil, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, O’Connell, Shona, O’Sullivan, Sarah, Pieper, Ellen, Robinson, Bridget, Saunus, Jodi, Scott, Elizabeth, Shelling, Andrew, Williams, Rachael, and Young, Mary Ann

Subjects
692/4028/67/68, 631/67/68, article, nutritional and metabolic diseases, 631/208/68, skin and connective tissue diseases, 3. Good health
Abstract

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.

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