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Journal Article
Catucci, Irene, Osorio, Ana ORCID: 0000-0001-8124-3984, Arver, Brita, Neidhardt, Guido, Bogliolo, Massimo
ORCID: 0000-0001-8240-7784, Zanardi, Federica, Riboni, Mirko, Minardi, Simone, Pujol, Roser, Azzollini, Jacopo
ORCID: 0000-0002-9364-9778, Peissel, Bernard, Manoukian, Siranoush, De Vecchi, Giovanna, Casola, Stefano
ORCID: 0000-0001-5580-0986, Hauke, Jan, Richters, Lisa, Rhiem, Kerstin, Schmutzler, Rita K., Wallander, Karin
ORCID: 0000-0001-8166-9678, Torngren, Therese, Borg, Ake, Radice, Paolo
ORCID: 0000-0001-6298-4111, Surralles, Jordi, Hahnen, Eric, Ehrencrona, Hans
ORCID: 0000-0002-5589-3622, Kvist, Anders
ORCID: 0000-0002-1358-0695, Benitez, Javier and Peterlongo, Paolo
ORCID: 0000-0001-6951-6855
(2018).
Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Genet. Med., 20 (4).
S. 452 - 458.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366
Figlioli, Gisella ORCID: 0000-0002-0740-1363, Bogliolo, Massimo
ORCID: 0000-0001-8240-7784, Catucci, Irene, Caleca, Laura
ORCID: 0000-0002-3381-7493, Viz Lasheras, Sandra
ORCID: 0000-0001-5873-5104, 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
ORCID: 0000-0001-9320-8684, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Paivi, Azzollini, Jacopo, Balmana, Judith
ORCID: 0000-0002-0762-6415, 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
ORCID: 0000-0003-3041-1938, Bogdanova, Natalia, V, Bojesen, Anders
ORCID: 0000-0003-4289-8595, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud
ORCID: 0000-0001-7531-2736, Brenner, Hermann, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico
ORCID: 0000-0002-4261-4583, 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
ORCID: 0000-0002-3171-1556, 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
ORCID: 0000-0002-8359-518X, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane
ORCID: 0000-0003-1411-4554, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, III, Howell, Anthony
ORCID: 0000-0002-6233-719X, Hu, Chunling
ORCID: 0000-0002-6814-4639, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul
ORCID: 0000-0002-4361-4657, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene
ORCID: 0000-0002-0470-0309, Koutros, Stella, Kraft, Peter, Lambrechts, Diether
ORCID: 0000-0002-3429-302X, 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
ORCID: 0000-0003-3708-1732, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu
ORCID: 0000-0002-6217-0182, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olson, Janet E., Olsson, Hakan
ORCID: 0000-0002-8794-9635, Osorio, Ana
ORCID: 0000-0001-8124-3984, Ottini, Laura, Peissel, Bernard, Peixoto, Ana
ORCID: 0000-0002-1404-5897, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Angel Pujana, Miquel, Punie, Kevin
ORCID: 0000-0002-1162-7963, 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
ORCID: 0000-0002-0485-0120, 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
ORCID: 0000-0002-1878-2587, Doerk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo
ORCID: 0000-0001-6298-4111, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surralles, Jordi, Peterlongo, Paolo
ORCID: 0000-0001-6951-6855, 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
ORCID: 0000-0002-2806-2401, Zeps, Nikolajs
ORCID: 0000-0002-6404-6839, Belotti, Muriel, Bertrand, Ophelie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine
ORCID: 0000-0001-5338-9388, 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
ORCID: 0000-0002-4915-2254, Saunders, Christobel
ORCID: 0000-0003-2281-9829, 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
ORCID: 0000-0002-4860-9232, Colley, Alison, Fenton, Georgina, Crook, Ashley
ORCID: 0000-0001-5578-0460, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James
ORCID: 0000-0003-4955-1383, 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
(2019).
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
npj Breast Cancer, 5.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2374-4677
Keupp, Katharina, Hampp, Stephanie, Huebbel, Annette, Maringa, Monika, Kostezka, Sarah, Rhiem, Kerstin, Waha, Anke, Wappenschmidt, Barbara, Pujol, Roser, Surralles, Jordi, Schmutzler, Rita K., Wiesmueller, Lisa and Hahnen, Eric (2019). Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. Mol. Genet. Genom. Med., 7 (9). HOBOKEN: WILEY. ISSN 2324-9269
Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Sarlos, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmueller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A. Y., Barraza-Garcia, Jimena, Begtrup, Amber, Bogliolo, Massimo
ORCID: 0000-0001-8240-7784, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Grainne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito
ORCID: 0000-0003-4978-1680, Kohda, Masakazu, Stabej, Polona Le Quesne, Malallah, Asam Jassim, Nuernberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria Jose, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel
ORCID: 0000-0001-7758-0312, Wilson, Carolyn, Yigit, Goekhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesais, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D. and Jackson, Andrew P.
(2018).
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am. J. Hum. Genet., 103 (2).
S. 221 - 232.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605