Citations 5
Pregnancy After Breast Cancer in Young BRCA Carriers
Kim, Hee Jeong , Bernstein‐Molho, Rinat , Pogoda, Katarzyna , Carrasco, Estela , Bajpai, Jyoti , Phillips, Kelly‐Anne , Rousset‐Jablonski, Christine , Renaud, Tiphaine , Cui, Wanda, Wong, Stephanie M. , Ruddy, Kathryn J. , Rozenblit, Mariya, Marchis, Laura De , Mriňáková, Bela , Meister, Sarah , Livraghi, Luca , Clatot, Florian , Yerushalmi, Rinat , Angelis, Carmine De , Meattini, Icro , Cichowska-Cwalińska, Natalia, Berlière, Martine , Salama, Mahmoud , Giorgi, Ugo De , Sonnenblick, Amir , Chiodi, Camila , Maria, Camille, Azim, Hatem A. , Molinelli, Chiara , Paesmans, Marianne , Ameye, Lieveke , Hatse, Sigrid , Nevelsteen, Ines , Neven, Patrick , Rompuy, Chantal Van, Duhoux, François, Bini, Federica , Cont, Nicoletta Tomasi, Pais, Helena Luna , Mohar, Alejandro , Palacios, Tamara, Pastò, Brenno , Bonadio, Renata Colombo , Peretz‐Yablonski, Tamar , Anghelone, Chiara Annunziata Pasqualina, Valle, Angelica Della , Campanella, Maria, Bas, Raphaëlle, Talouet, Solenne de, Bonadona, Valérie, Lasset, Christine , Acheritogaray, Marion , Sénéchal, Claire , Mariño, Monica , Feldman, Didi, Pesce, Romina , Allemand, Carol, Riggi, Cecilia, Iriarte, Maria Belen, Salgado, Alfonso Cortés, Gión, María , Prat, Aleix , Hester, Anna, Dunckelmann, Sofia, Bartsch, Rupert , Mannsbarth, Constantin, Božović‐Spasojević, Ivana, Dimitrijević, Marija, Visani, Luca , Bettazzi, Beatrice, Sini, Valentina, Rognone, Alessia, Patricelli, Maria Grazia , Rabaiotti, Emanuela , Acconci, Giulia, Baldacci, Erica, Bianchini, Giulia, Kleiterp, Sieta, Moha, Daoud Ait, Sekar, Anberson, Loi, Francesco , Dessì, Mariele, O’Connor, Sarah , Nesci, Stephanie, Michael, Chris, Larson, Nicole L. , Lopetegui, Nerea M., Rocco, Roberta Di, Bengala, Carmelo , Haddad, Stephanie , Safran, Emma, Negri, Serena , Dell'Oro, Cristina, Marchetta, Liliana, Lustberg, Maryam B. , Blansky, Deanna , Ansari, Norin , Aguilar-y-Méndez, Dione, Swain, Monique , Miller, Madison , Leach, Richard E., Synowiec, Agnieszka , Hancinova, M., Tarbaj, L., Beslija, S. , Cerić, Timur , Hasanbegovic, B. , Bianchi, Manuel A., Álvaro, Laura, Bergman, Louise Eriksson, Damian, Cristina , Eriksson, Louise , Cui, Wanyuan , Prat, Aleix , De Angelis, Carmine , Meattini, Icro , Rousset-Jablonski, Christine , Phillips, Kelly-Anne , Cui, Wanda , Wong, Stephanie M , Livraghi, Luca , Lustberg, Maryam , Pogoda, K. , Lambertini, Matteo , Blondeaux, Eva , Agostinetto, Elisa , Hamy, Anne‐Sophie , Meglio, Antonio Di , Hilbers, Florentine , Punie, Kevin , Ignatiadis, Michail , Moore, Halle C. F. , Toss, Angela , Peccatori, Fedro A , Ferrari, Alberta , Paluch–Shimon, Shani , Fruscio, Robert , Vernieri, Claudio , Dieci, Maria Vittoria , Matikas, Alexios , Rozenblit, Mariya , Villarreal‐Garza, Cynthia , Mastro, Lucia Del , Puglisi, Fabio , Estevez-Diz, Maria Del Pilar , Rodriguez-Wallberg, Kenny A , Sánchez-Bayona, Rodrigo , Lee, Young‐Jin , Boni, Luca , Partridge, Ann H. , Azambuja, Evandro de , Amant, Frédéric , Brems, Hilde , Han, Sileny , Smeets, Ann , Wildiers, Hans , Giugliano, Federica , Criscitiello, Carmen , Borea, Roberto , Arecco, Luca , Chirco, Alessandra, Venturelli, Marta , Cortesi, Laura , Ponzone, Riccardo , Balmañà, Judith , Graffeo, Rossella , Ros, Lucia Da , Miolo, Gianmaria , Garutti, Mattia , Spazzapan, Simon , Viel, Alessandra , Fidalgo, José Alejandro Pérez , Guarneri, Valentina , Heudel, Pierre‐Etienne , Trédan, Olivier , Bonadona, Valérie , Córdoba, Octavi , Cortés, Javier , Saavedra, Cristina , Rodriguez, Adela R. , Adamo, Bárbara , Harbeck, Nadia , Marhold, Maximilian , POPOVIC, LAZAR S. , Krivokuća, Ana , Livi, Lorenzo , Sposetti, Caterina , Bianchini, Giampaolo , Gentilini, Oreste D , Fontana, Andrea , Pistelli, Mirco , Linn, Sabine C. , Sarin, Rajiv , Atzori, Francesco , O’Connor, Sarah, James, Paul A. , Michael, Chris, Couch, Fergus J. , Olson, Janet E. , Yadav, Siddhartha , Carey, Lisa A. , Abdou, Yara George , Zagami, Paola , Baldassarri, Margherita , Mariamidze, Elene , Graff, Stephanie L. , Matos, Leonor Vasconcelos de , Ferreira, Arlindo Rebelo , Dell’Oro, Cristina, Inzoli, Alessandra , Costa, Clarissa , Jeon, June Evelyn , Woodruff, Teresa K. , Fabi, Alessandra , Palazzo, Antonella , Paris, Ida , Kufel-Grabowska, Joanna , Sokolović, Emir , Foulkes, William D. , Bianchi, Manuel Alva, Tolosa, Pablo , Antone, Nicoleta Zenovia , Damian, Cristina
JAMA | December 7, 2023 | Volume: 331 | Issue: 1 | Pages: 49
ImportanceYoung women with breast cancer who have germline pathogenic variants in BRCA1 or BRCA2 face unique challenges regarding fertility. Previous studies demonstrating the feasibility and safety of pregnancy in breast cancer survivors included limited data regarding BRCA carriers.ObjectiveTo investigate cumulative incidence of pregnancy and disease-free survival in young women who are BRCA carriers.Design, Setting, and ParticipantsInternational, multicenter, hospital-based, retrospective cohort study conducted at 78 participating centers worldwide. The study included female participants diagnosed with invasive breast cancer at age 40 years or younger between January 2000 and December 2020 carrying germline pathogenic variants in BRCA1 and/or BRCA2. Last delivery was October 7, 2022; last follow-up was February 20, 2023.ExposurePregnancy after breast cancer.Main Outcomes and MeasuresPrimary end points were cumulative incidence of pregnancy after breast cancer and disease-free survival. Secondary end points were breast cancer–specific survival, overall survival, pregnancy, and fetal and obstetric outcomes.ResultsOf 4732 BRCA carriers included, 659 had at least 1 pregnancy after breast cancer and 4073 did not. Median age at diagnosis in the overall cohort was 35 years (IQR, 31-38 years). Cumulative incidence of pregnancy at 10 years was 22% (95% CI, 21%-24%), with a median time from breast cancer diagnosis to conception of 3.5 years (IQR, 2.2-5.3 years). Among the 659 patients who had a pregnancy, 45 (6.9%) and 63 (9.7%) had an induced abortion or a miscarriage, respectively. Of the 517 patients (79.7%) with a completed pregnancy, 406 (91.0%) delivered at term (≥37 weeks) and 54 (10.4%) had twins. Among the 470 infants born with known information on pregnancy complications, 4 (0.9%) had documented congenital anomalies. Median follow-up was 7.8 years (IQR, 4.5-12.6 years). No significant difference in disease-free survival was observed between patients with or without a pregnancy after breast cancer (adjusted hazard ratio, 0.99; 95% CI, 0.81-1.20). Patients who had a pregnancy had significantly better breast cancer–specific survival and overall survival.Conclusions and RelevanceIn this global study, 1 in 5 young BRCA carriers conceived within 10 years after breast cancer diagnosis. Pregnancy following breast cancer in BRCA carriers was not associated with decreased disease-free survival.Trial RegistrationClinicalTrials.gov Identifier: NCT03673306
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
Patel, Vivek , Busch, Evan L. , Cronin, Angel M., Leslie, Goska , McGuffog, Lesley, Adlard, Julian , Agata, Simona , Agnarsson, Bjarni A. , Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L. , Arason, Aðalgeir , Artioli, Grazia, Arver, Brita, Auber, Bernd , Azzollini, Jacopo , Barkardóttir, Rósa B. , Barroso, Alicia, Barrowdale, Daniel , Belotti, Muriel, Bertelsen, Birgitte , Blok, Marinus J. , Bodrogi, I., Bonadona, Valérie, Bondavalli, Davide , Boonen, Susanne E. , Borde, Julika , Borg, Åke , Bradbury, Angela R. , Brady, Angela, Brewer, Carole, Brunet, Joan , Buecher, Bruno , Caldés, Trinidad , Caliebe, Almuth , Calvello, Mariarosaria , Carrasco, Estela , Chan, Tsun Leung , Claes, Kathleen , Collaborators, GEMO Study, Collaborators, EMBRACE, Cortesi, Laura , Daly, Mary B., Damante, Giuseppe , Darder, Esther , Davidson, Rosemarie, Puppa, Lara Della , Ding, Yuan Chun , Ditsch, Nina , Donaldson, Alan, Dworniczak, Bernd , Easton, Douglas F. , Eccles, Diana M., Eeles, Rosalind A. , Ehrencrona, Hans , Ejlertsen, Bent , Engel, Christoph , Evans, D. Gareth , Faivre, Laurence, Faust, Ulrike , Feliubadaló, Lídia , Foretová, Lenka , Fountzilas, George , Frost, Debra, García‐Barberán, Vanesa , Gauthier‐Villars, Marion , Géczi, Lajos , Gehrig, Andrea, Gesta, Paul , Giannini, Giuseppe , Glendon, Gord , Goldgar, David E. , Greene, Mark H. , Gutierrez‐Barrera, Angelica M. , Hahnen, Eric , Hamann, Ute, Hauke, Jan , Herold, Natalie, Hogervorst, Frans B.L., Honisch, Ellen, Hulick, Peter J. , Investigators, kConFab, Investigators, Hebon, Izatt, Louise , Jager, Agnes , James, Paul A. , Janavičius, Ramūnas , Jensen, Uffe Birk , Jensen, Thomas D., Johannsson, Oskar T., John, Esther M. , Kang, Eunyoung , Kast, Karin, Kiiski, Johanna I. , Kim, Sung-Won, Ko, Kwang‐Pil , Konstantopoulou, Irene , Kramer, Gero , Krogh, Lotte, Kruse, Torben A., Kwong, Ava , Larsen, Mirjam, Lasset, Christine , Lautrup, Charlotte Kvist , Lee, Jihyoun , Lee, Jong Won, Lee, Min Hyuk , Lesueur, Fabienne , Liljegren, Annelie , Lindblom, Annika , Llovet, Patricia , López‐Fernández, Adrià , López‐Perolio, Irene, Lorca, Víctor , Loud, Jennifer T. , S.K., Edmond , Mai, Phuong L., Manoukian, Siranoush , Mari, Véronique , Martin, Lynn , Matricardi, Laura , Mebirouk, Noura, Medici, Veronica, Meijers‐Heijboer, Hanne , Meindl, Alfons , Mensenkamp, Arjen R. , Miller, Clare , Gomes, D. Molina , Montagna, Marco , Mooij, Thea M. , Mouret‐Fourme, Emmanuelle, Nathanson, Katherine L. , Navrátilová, Marie , Niederacher, Dieter , Nielsen, Finn C., Ņikitina-Zaķe, Liene , Offit, Kenneth, Oláh, Edith , Olopade, Olufunmilayo I. , Ong, Kai-Ren, Osório, Ana , Ott, Claus‐Eric , Park, Sue K. , Pedersen, Inge Søkilde , Peissel, Bernard , Peixoto, Ana , Peterlongo, Paolo , Petersen, Annabeth Høgh , Porteous, Mary, Pujana, Miguel Ángel , Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad Usman , Rhiem, Kerstin, Rizzolo, Piera , Rookus, Matti A. , Rossing, Caroline Maria, Ruddy, Kathryn J. , Santos, Catarina , Saule, Claire , Scarpitta, Rosa , Schmutzler, Rita K., Schuster, Hélène, Senter, Leigha , Seynaeve, Caroline, Shah, Payal D. , Silvestri, Valentina , Simard, Jacques , Skytte, Anne‐Bine , Snape, Katie , Solano, Ángela R. , Soucy, Penny, Sunde, Lone , Sutter, Christian , Tan, Yen Y. , Teixeira, Manuel R. , Teo, Soo‐Hwang , Thomassen, Mads , Tibiletti, Maria Grazia , Toland, Amanda Ewart, Torres, Diana , Trainer, Alison H., Baan, Frederieke H. van der , Kolk, Lizet E. van der, Hest, Liselotte P. van , Varesco, Liliana , Varon-Mateeva, Raymonda, Viel, Alessandra , Vierstraete, Jeroen , Villa, Roberta, Wachenfeldt, Anna von , Wagner, Philipp , Wang‐Gohrke, Shan , Wappenschmidt, Barbara , Weitzel, Jeffrey N. , Wieme, Greet , Yadav, Siddhartha , Yoon, Sook‐Yee , Zanzottera, Cristina , Zorn, Kristin K. , D’Amico, Anthony V. , Freedman, Matthew L. , Pomerantz, Mark M., Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Ottini, Laura , Nielsen, Henriette Roed, Durocher, Francine , Eccles, Diana , Caputo, Sandrine M. , Faivre, Laurence , Leslie, Goska , Adlard, Julian , Arnold, Norbert , Auber, Bernd , Azzollini, Jacopo , Barnes, Daniel R , Brunet, Joan , Caligo, Maria A , Campbell, Ian G , Claes, Kathleen B M , Darder, Esther , Dennis, Joe , Dworniczak, Bernd , Eeles, Rosalind A , Ehrencrona, Hans , Ejlertsen, Bent , Evans, D Gareth , Garre, Pilar , Greene, Mark H , Hulick, Peter J , Jager, Agnes , James, Paul , John, Esther M , Joseph, Vijai , Kim, Sung-Won , Konstantopoulou, Irene , Lesueur, Fabienne , Matricardi, Laura , Gomes, Denise Molina , Nevanlinna, H , Olopade, Olufunmilayo I , Palli, Domenico , Park, Sue K , Parsons, Michael T , Peterlongo, Paolo , Petersen, Annabeth Høgh , Pujana, Miquel Angel , Ruddy, Kathryn J , Scarpitta, Rosa , Shah, Payal D , Silvestri, Valentina , Southey, Melissa C , Spurdle, Amanda B , Stoppa-Lyonnet, Dominique , Sunde, Lone , Teixeira, Manuel R , Teo, Soo H , Tommasi, Stefania , Toss, Angela , van der Luijt, Rob B , Vierstraete, Jeroen , Wieme, Greet , Yadav, Siddhartha , Antoniou, Antonis C , Eccles, Diana , Weitzel, Jeffrey N , Torres, Diana , Nathanson, Katherine L , Arason, Adalgeir , Barrowdale, Daniel , Boonen, Susanne E , Cortesi, Laura , Engel, Christoph , Hahnen, Eric , Montagna, Marco , Viel, Alessandra , Simard, Jacques , Chenevix-Trench, Georgia , Ottini, Laura , Senter, Leigha , Faivre, Laurence , Rashid, Muhammad U , Calvello, Mariarosaria , Feliubadaló, Lidia , Hauke, Jan , Manoukian, Siranoush , Pomerantz, Mark M , Kwong, Ava , Lindblom, Annika , Friebel, Tara M. , Arnold, Norbert , Balmañà, Judith , Barnes, Daniel R. , Benı́tez, Javier , Bonadona, Valérie , Bonanni, Bernardo , Borg, Åke , Buys, Saundra S. , Cabezas-Camarero, Santiago , Caligo, Maria A. , Campbell, Ian , Carnevali, Ileana Wanda , Chu, Annie Tsz-Wai , Chung, Wendy K. , Cook, Jackie A , Couch, Fergus J. , Hoya, Miguel de la , Dı́ez, Orland , Domchek, Susan M. , Fostira, Florentia , Gerdes, Anne‐Marie , Godwin, Andrew K. , Herold, Natalie, Hopper, John L. , Jensen, Thomas Dyrso, Vijai, Joseph , Lasset, Christine , Lázaro, Conxi , Lemke, Johannes R. , Mai, Phuong L., Meindl, Alfons , Miller, Clare, Moserle, Lidia , Mulligan, Anna Marie , Nevanlinna, Heli , Palli, Domenico , Parsons, Michael T. , Perez-Segura, Pedro , Radice, Paolo , Rhiem, Kerstin , Robson, Mark E. , Sharma, Priyanka , Shin, Vivian Yvonne , Singer, Christian F. , Southey, Melissa C. , Spurdle, Amanda B. , Steele, Linda, Steinemann, Doris , Stoppa‐Lyonnet, Dominique , Stradella, Agostina , Tischkowitz, Marc D. , Tognazzo, Silvia , Toland, Amanda Ewart , Tung, Nadine , Asperen, Christi J. van , Luijt, Rob B. van der , Yannoukakos, Drakoulis , Neuhausen, Susan L. , Rebbeck, Timothy R.
Cancer Research | November 13, 2019 | Volume: 80 | Issue: 3 | Pages: 624-638
Abstract Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3′ region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25–2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63–5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71–4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12–11.54; P = 0.0002). No genotype–phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. Significance: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study
Qian, Frank , Wang, Shengfeng , McGuffog, Lesley, Barrowdale, Daniel , Oosterwijk, Jan C., Evans, D. Gareth , Engel, Christoph , Kast, Karin, Aalfs, Cora M. , Adank, Muriel A. , Agnarsson, Bjarni A. , Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L. , Ausems, Margreet G.E.M. , Azzollini, Jacopo , Barouk-Simonet, Emmanuelle, Belotti, Muriel, Benı́tez, Javier , Berger, Andreas, Borg, Åke , Bradbury, Angela R. , Brunet, Joan , Caldés, Trinidad , Caputo, Sandrine M. , Chiquette, Jocelyne , Collée, J. Margriet, Coupier, Isabelle, Daly, Mary B., Davidson, Rosemarie, Donaldson, Alan, Dorfling, Cecilia M., Eeles, Rosalind A. , Feliubadaló, Lídia , Foretová, Lenka , Fowler, Jeffrey M., Friedman, Eitan , Frost, Debra, Ganz, Patricia A. , García‐Barberán, Vanesa , Glendon, Gord , Gómez, E. , Hahnen, Eric , Hamann, Ute, Henderson, Alex, Hendricks, Carolyn B., Hulick, Peter J. , Imyanitov, Evgeny N., Izatt, Louise , Jakubowska, Anna , Kaczmarek, Katarzyna, Kang, Eunyoung , Kets, Carolien M., Kim, Sung-Won, Kwong, Ava , Laitman, Yael , Lasset, Christine, Lee, Min Hyuk , Lee, Jong Won, Lee, Jihyoun , Lester, Jenny, Lesueur, Fabienne , Loud, Jennifer T. , Mebirouk, Noura, Meijers‐Heijboer, Hanne , Meindl, Alfons , Montagna, Marco , Mooij, Thea M. , Mouret‐Fourme, Emmanuelle, Nathanson, Katherine L. , Niederacher, Dieter , Offit, Kenneth, Oláh, Edith , Ong, Kai-Ren, Ottini, Laura , Park, Sue K. , Peterlongo, Paolo , Pfeiler, Georg , Phelan, Catherine M., Poppe, Bruce , Pradhan, Nisha , Radice, Paolo , Ramus, Susan J. , Rantala, Johanna, Rodriguez, Gustavo C. , Schmutzler, Rita K., Selkirk, Christina G. , Shah, Payal D. , Simard, Jacques , Sutter, Christian , Tan, Yen Y. , Teixeira, R , Teo, Soo‐Hwang , Terry, Mary Beth , Thomassen, Mads , Toland, Amanda Ewart, Tucker, Kathy , Engelen, Klaartje van , Rensburg, Elizabeth J. van , Wang‐Gohrke, Shan , Wappenschmidt, Barbara , Weitzel, Jeffrey N. , Collaborators, GEMO Study, HEBON, EMBRACE, Greene, Mark H. , Rookus, Matti A. , Easton, Douglas F. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Goldgar, David E., Olopade, Olufunmilayo I. , Huo, Dezheng , Durocher, Francine , Teixeira, Manuel R. , Mitchell, Jonathan A. , Białkowska, Katarzyna , Hulick, Peter J , Lesueur, Fabienne , Peterlongo, Paolo , Ramus, Susan J , Teixeira, Manuel R , Teo, Soo H , van Rensburg, Elizabeth J , Radice, Paolo , Weitzel, Jeffrey N , Azzollini, Jacopo , Brunet, Joan , Eeles, Rosalind A , Evans, D Gareth , Olopade, Olufunmilayo I , Jakubowska, Anna , Nathanson, Katherine L , Barrowdale, Daniel , Benitez, Javier , Engel, Christoph , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Ottini, Laura , Mitchell, Jonathan S. , Leslie, Goska , Chung, Wendy K. , Adlard, Julian , Arun, Banu , Barwell, Julian , Borg, Åke , Buys, Saundra S. , Caligo, Maria A. , Campbell, Ian , Claes, Kathleen , Couch, Fergus J. , Dı́ez, Orland , Domchek, Susan M. , Garber, Judy E. , Godwin, Andrew K. , Gronwald, Jacek , Hopper, John L. , Isaacs, Claudine , Izquierdo, Á. , Karlan, Beth Y. , Kim, Sung-Won , Lasset, Christine , Lubiński, Jan , Meindl, Alfons , Miller, Austin , Morrison, Patrick J. , Neuhausen, Susan L. , Nevanlinna, Heli , Nielsen, Finn Cilius , Nussbaum, Robert L. , Robson, Mark E. , Singer, Christian F. , Giles, Graham G , Stoppa‐Lyonnet, Dominique , Tischkowitz, Marc D. , Toland, Amanda Ewart , Tung, Nadine , Asperen, Christi J. van , Yannoukakos, Drakoulis , Collaborators, GEMO Study, HEBON, EMBRACE, Rebbeck, Timothy R. , Feliubadaló, Lidia , Gómez-García, Encarna B , Terry, Mary Beth , Kwong, Ava
JNCI: Journal of the National Cancer Institute | July 3, 2018 | Volume: 111 | Issue: 4 | Pages: 350-364
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Friebel, Tara M. , Friedman, Eitan , Hamann, Ute, Huo, Dezheng , Kwong, Ava , Oláh, Edith , Olopade, Olufunmilayo I., Solano, Ángela R. , Teo, Soo‐Hwang , Thomassen, Mads , Weitzel, Jeffrey N. , Chan, TL, Couch, Fergus J., Goldgar, David E., Kruse, Torben A., Palmero, Edenir Inêz , Park, Sue K. , Torres, Diana , Rensburg, Elizabeth J. van , McGuffog, Lesley, Aalfs, Cora M. , Abugattas, Julio E. , Aittomäki, Kristiina, Andrews, Lesley , Andrulis, Irene L., Arason, Aðalgeir , Arun, Banu, Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo , Balmañà, Judith , Barile, Monica, Barkardóttir, Rósa B. , Barrowdale, Daniel , Benı́tez, Javier , Berger, Andreas, Berger, Raanan , Blanco, Amie , Blazer, Kathleen R. , Blok, Marinus J. , Bonadona, Valérie , Bradbury, Angela R. , Brewer, Carole, Buecher, Bruno , Caldés, Trinidad, Caliebe, Almuth , Caligo, Maria A. , Caputo, Sandrine M. , Chiquette, Jocelyne , Claes, Kathleen , Collée, J. Margriet, Davidson, Rosemarie, Hoya, Miguel de la , Leeneer, Kim De , Pauw, Antoine De , Delnatte, Capucine, Ding, Yuan Chun , Ditsch, Nina , Dorfling, Cecilia M., Dworniczak, Bernd , Eason, Jacqueline , Easton, Douglas F. , Eeles, Rosalind A. , Ehrencrona, Hans , Ejlertsen, Bent , EMBRACE, Engel, Christoph , Engert, Stefanie, Evans, D. Gareth , Faivre, Laurence, Feliubadaló, Lídia , Ferrer, Sandra Fert, Foretová, Lenka , Fowler, Jeffrey M., Frost, Debra, Galvão, Henrique C.R. , Ganz, Patricia A. , Gauthier‐Villars, Marion , Gehrig, Andrea, Collaborators, GEMO Study, Gerdes, Anne‐Marie , Gesta, Paul , Giannini, Giuseppe , Giraud, Sophie , Glendon, Gord , Godwin, Andrew K., Greene, Mark H. , Gutierrez‐Barrera, Angelica M. , Hahnen, Eric , Hauke, Jan , HEBON, Henderson, Alex, Hogervorst, Frans B. L., Honisch, Ellen, Imyanitov, Evgeny N., Izatt, Louise , Izquierdo, Á. , Jakubowska, Anna , James, Paul A. , Janavičius, Ramūnas , Jensen, Uffe Birk , Vijai, Joseph , Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Investigators, kConFab, Kim, Sung-Won, Konstantopoulou, Irene , Korach, Jacob, Laitman, Yael , Lasset, Christine, Lázaro, Conxi , Lee, Annette, Lee, Min Hyuk , Lester, Jenny, Lesueur, Fabienne , Liljegren, Annelie, Lindor, Noralane M. , Longy, Michel, Loud, Jennifer T. , Lu, Karen H. , Lubiński, Jan , Macháčková, Eva , Manoukian, Siranoush , Mari, Véronique , Martínez-Bouzas, Cristina, Mátrai, Zoltán , Mebirouk, Noura, Meijers‐Heijboer, Hanne , Meindl, Alfons , Mensenkamp, Arjen R. , Mickys, Ugnius, Montagna, Marco , Moysich, Kirsten B., Mulligan, Anna Marie , Musinsky, Jacob, Ngeow, Joanne , Niederacher, Dieter , Nielsen, Henriette Roed, Nielsen, Finn C., Offit, Kenneth, Öfverholm, Anna , Ong, Kai‐Ren , Osório, Ana , Papp, J., Pasini, Barbara , Pedersen, Inge Søkilde , Peixoto, Ana , Peruga, Nina, Peterlongo, Paolo , Pohl, Esther, Pradhan, Nisha , Prajzendanc, Karolina , Prieur, Fabienne, Radice, Paolo , Ramus, Susan J. , Rantala, Johanna, Rashid, Muhammad Usman , Rhiem, Kerstin, Rodriguez, Gustavo C. , Rogers, Mark T., Rudaitis, Vilius , Schmidt, Ane Yde , Schmutzler, Rita K., Senter, Leigha , Shah, Payal D. , Side, Lucy, Simard, Jacques , Skytte, Anne‐Bine , Slavin, Thomas P. , Snape, Katie , Sobol, Hagay, Southey, Melissa C. , Sukiennicki, Grzegorz, Sutter, Christian , Tan, Yen Y. , Teixeira, Manuel R. , Terry, Mary Beth , Teulé, Àlex , Thomas, Abigail, Thull, Darcy L. , Tognazzo, Silvia , Toland, Amanda Ewart, Topka, Sabine , Trainer, Alison H. , Hout, Annemieke H. van der, Kolk, Lizet E. van der, Luijt, Rob B. van der , Heetvelde, Mattias Van , Varesco, Liliana, Varon‐Mateeva, Raymonda, Vega, Ana , Villarreal‐Garza, Cynthia , Wachenfeldt, Anna von , Walker, Lisa, Wang‐Gohrke, Shan , Wappenschmidt, Barbara, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K. , Selkirk, Christina G. , Hulick, Peter J. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Nathanson, Katherine L. , Durocher, Francine , Olopade, Olufunmilayo I. , Faivre, Laurence , Białkowska, Katarzyna , Caligo, Maria A , Hulick, Peter J , James, Paul , Lesueur, Fabienne , Peterlongo, Paolo , Ramus, Susan J , Teixeira, Manuel R , Teo, Soo H , van Rensburg, Elizabeth J , Moysich, Kirsten , Vega, Ana , de la Hoya, Miguel , Radice, Paolo , Weitzel, Jeffrey N , Claes, Kathleen B M , Azzollini, Jacopo , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , Joseph, Vijai , Konstantopoulou, Irene , Olopade, Olufunmilayo I , Southey, Melissa C , van der Luijt, Rob B , Jakubowska, Anna , Palmero, Edenir I , Torres, Diana , Nathanson, Katherine L , Arason, Adalgeir , Barrowdale, Daniel , Benitez, Javier , Engel, Christoph , Izquierdo, Angel , Lazaro, Conxi , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Senter, Leigha , Topka, Sabine , Rebbeck, Timothy R. , Couch, Fergus J. , Parsons, Michael T. , Leslie, Goska , Adlard, Julian , Agata, Simona , Arnold, Norbert , Bonanni, Bernardo , Buys, Saundra S. , Campbell, Ian , Chung, Wendy K. , Cook, Jackie A , Dı́ez, Orland , Domchek, Susan M. , Velázquez, Carolina , EMBRACE, Garber, Judy E. , Collaborators, GEMO Study, Gronwald, Jacek , HEBON, Hentschel, Julia , Hogervorst, Frans B.L., Isaacs, Claudine , John, Esther M. , Karlan, Beth Y. , Lasa, Adriana , Lasset, Christine , Liljegren, Annelie , Meindl, Alfons , Miller, Austin , Moysich, Kirsten B. , Neuhausen, Susan L. , Nevanlinna, Heli , Nguyen, Huu Phuc , Nussbaum, Robert L. , Papi, Laura , Pujol, Pascal , Rhiem, Kerstin , Robson, Mark E. , Sharma, Priyanka , Singer, Christian F. , Sobol, Hagay , Steele, Linda Roslyn , Steinemann, Doris , Szabo, Csilla I. , Tischkowitz, Marc D. , Toland, Amanda Ewart , Tung, Nadine , Asperen, Christi J. van , Varesco, Liliana , Varon-Mateeva, Raymonda, Wappenschmidt, Barbara , Weber, Bernhard H. F. , Yannoukakos, Drakoulis , Spurdle, Amanda B. , Faivre, Laurence , Rashid, Muhammad U , De Leeneer, Kim , Feliubadaló, Lidia , Hauke, Jan , Pasini, Barbara , Ngeow, Joanne , Manoukian, Siranoush , Lubinski, Jan , Terry, Mary Beth , Villarreal-Garza, Cynthia , Balmaña, Judith , Kwong, Ava
Human Mutation | February 15, 2018 | Volume: 39 | Issue: 5 | Pages: 593-620
Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer
Rebbeck, Timothy R., Sinilnikova, Olga M., Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie , Chenevix‐Trench, Georgia , Easton, Douglas F. , Antoniou, Antonis C. , Nathanson, Katherine L. , Laitman, Yael , Kushnir, Anya, Berger, Raanan , Zidan, Jamal, Friedman, Eitan , Ehrencrona, Hans , Stenmark‐Askmalm, Marie , Einbeigi, Zakaria , Loman, Niklas, Harbst, Katja , Rantala, Johanna, Melin, Beatrice , Olopade, Olufunmilayo I. , Seldon, Joyce, Ganz, Patricia A. , Chan, Salina, Odunsi, Kunle , Gayther, Simon A. , Lu, Karen H., Mitchell, Gillian, Walsh, Christine , Lester, Jenny, Ross, Eric A. , Daly, Mary B., Whittemore, Alice S. , John, Esther M. , Miron, Alexander, Terry, Mary Beth , Goldgar, David E., Tihomirova, Laima, Dorfling, Cecilia M., Rensburg, Elizabeth J. van , Ding, Yuan Chun , Ejlertsen, Bent , Gerdes, Anne‐Marie , Osório, Ana , Benı́tez, Javier , Godino, Javier, Tejada, María‐Isabel , Durán, M. , Weitzel, Jeffrey N. , Bobolis, Kristie, Sand, Sharon , Fontaine, Annette Campbell, Savarese, Antonella , Pasini, Barbara , Peissel, Bernard , Zaffaroni, Daniela , Vignolo-Lutati, Francesca, Scuvera, Giulietta, Giannini, Giuseppe , Bernard, Loris, Genuardi, Maurizio , Radice, Paolo , Dolcetti, Riccardo , Manoukian, Siranoush , Pensotti, Valeria , Yannoukakos, Drakoulis , Torres, Diana , Rashid, Muhammad Usman , Hamann, Ute, Peock, Susan, Frost, Debra, Platte, Radka, Evans, D. Gareth , Eeles, Rosalind A. , Davidson, Rosemarie, Eccles, Diana , Cole, Trevor, Brewer, Carole, Hodgson, Shirley, Walker, Lisa, Porteous, Mary, Kennedy, M. John, Izatt, Louise , Adlard, Julian , Donaldson, Alan, Ellis, Steve, Sharma, Priyanka , Schmutzler, Rita K., Wappenschmidt, Barbara , Becker, Alexandra, Rhiem, Kerstin, Hahnen, Eric , Engel, Christoph , Meindl, Alfons , Engert, Stefanie, Ditsch, Nina , Plendl, Hans Jörg, Mundhenke, Christoph , Niederacher, Dieter , Fleisch, Markus C. , Sutter, Christian , Bartram, Claus R., Dikow, Nicola , Wang‐Gohrke, Shan , Gadzicki, Dorothea, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Houdayer, Claude , Belotti, Muriel, Gauthier‐Villars, Marion , Boutry‐Kryza, Nadia, Lasset, Christine, Sobol, Hagay , Peyrat, Jean‐Philippe, Muller, Danièle, Fricker, Jean‐Pierre , Collonge‐Rame, Marie‐Agnès , Mortemousque, Isabelle, Noguès, Catherine , Rouleau, Étienne , Paepe, Anne De , Poppe, Bruce , Claes, Kathleen , Piedmonte, Marion, Rodriguez, Gustavo C. , Wakely, Katie, Boggess, John F., Blank, Stephanie V. , Basil, Jack, Phillips, Kelly‐Anne , Caldés, Trinidad , Hoya, Miguel de la , Romero, Atocha , Aittomäki, Kristiina, Hout, Annemarie H. van der, Hogervorst, Frans B.L., Verhoef, Senno, Collée, J. Margriet, Seynaeve, Caroline, Oosterwijk, Jan C., Gille, Johannes J. P., Gómez, E. , Kets, Carolien M., Ausems, Margreet G.E.M. , Aalfs, Cora M. , Devilee, Peter , Mensenkamp, Arjen R. , Kwong, Ava , Oláh, Edith , Papp, J., Dı́ez, Orland , Darder, Esther , Blanco, Ignacio , Salinas, Mónica, Jakubowska, Anna , Lubiński, Jan , Jaworska–Bieniek, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Huzarski, Tomasz , Byrski, Tomasz , Cybulski, Cezary, Tołoczko‐Grabarek, Aleksandra, Złowocka-Perłowska, Elżbieta , Menkiszak, Janusz , Arason, Aðalgeir , Barkardóttir, Rósa B. , Simard, Jacques , Laframboise, Rachel , Montagna, Marco , Alducci, Elisa, Peixoto, Ana , Teixeira, Manuel R. , Spurdle, Amanda B. , Lee, Min Hyuk , Park, Sue K. , Kim, Sung-Won, Friebel, Tara M. , Lindor, Noralane M. , Guidugli, Lucia, Foretová, Lenka , Vijai, Joseph , Offit, Kenneth, Robson, Mark E. , Rau‐Murthy, Rohini, Kauff, Noah D. , Fink-Retter, A., Singer, Christian F., Gschwantler‐Kaulich, Daphne , Pfeiler, Georg , Tea, Muy‐Kheng M., Berger, Andreas, Greene, Mark H. , Mai, Phuong L., Imyanitov, Evgeny N., Senter, Leigha , Bojesen, Anders , Pedersen, Inge Søkilde , Skytte, Anne‐Bine , Sunde, Lone , Thomassen, Mads , Moeller, Sanne Traasdahl, Kruse, Torben A., Jensen, Uffe Birk , Caligo, Maria A. , Aretini, Paolo , Teo, Soo‐Hwang , Selkirk, Christina G. , Hulick, Peter J. , Andrulis, Irene L. , Lu, Karen H. , Durocher, Francine , Thorne, Heather , Pankratz, Vernon S, Wang, Xianshu , Mitra, Nandita , Wan, Fei , Paluch–Shimon, Shani , Huo, Dezheng , Nussbaum, Robert L. , Domchek, Susan M. , Arun, Banu , Karlan, Beth Y. , Godwin, Andrew K. , Pathak, Harsh B. , Chung, Wendy K. , Buys, Saundra S. , Janavičius, Ramūnas , Tung, Nadine , Steele, Linda Roslyn , Neuhausen, Susan L. , Hansen, Thomas van Overeem , Cajal, Teresa Ramón y , Godino, Javier, Bonanni, Bernardo , Gismondi, Viviana , Fostira, Florentia , Garber, Judy E. , Cook, Jackie A , Morrison, Patrick J. , Kennedy, M. John, Ellis, Steve, Meindl, Alfons , Arnold, Norbert , Steinemann, Doris , Beer, Marit A. de , Weber, Bernhard H. F. , Stoppa‐Lyonnet, Dominique , Houdayer, Claude , Damiola, Francesca , Lasset, Christine , Isaacs, Claudine , Leeneer, Kim De , Azodi, Masoud , Nevanlinna, Heli , Gille, Johannes J. P., Wijnen, Juul , Lázaro, Conxi , Gronwald, Jacek , Agata, Simona , Couch, Fergus J. , Pankratz, V. Shane , Tischkowitz, Marc D. , Singer, Christian F. , Rappaport, Christine , Mai, Phuong L., Toland, Amanda Ewart , Caligo, Maria A , Hulick, Peter J , Spurdle, Amanda B , Teixeira, Manuel R , Teo, Soo H , van Rensburg, Elizabeth J , Eccles, Diana , de la Hoya, Miguel , Diez, Orland , Radice, Paolo , Weitzel, Jeffrey N , Claes, Kathleen B M , Adlard, Julian , Darder, Esther , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , Joseph, Vijai , Olopade, Olufunmilayo I , Sunde, Lone , Menkiszak, Janusz , Jakubowska, Anna , Romero, Atocha , Torres, Diana , Nathanson, Katherine L , Arason, Adalgeir , Benitez, Javier , Engel, Christoph , Montagna, Marco , Robson, Mark , Simard, Jacques , Chenevix-Trench, Georgia , Huzarski, Tomasz , Senter, Leigha , Rashid, Muhammad U , Gómez-García, Encarna B , Pasini, Barbara , Yannoukakos, Drakoulis , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Sharma, Priyanka , Phillips, Kelly-Anne , Terry, Mary Beth , Kwong, Ava , Rhiem, Kerstin
JAMA | April 7, 2015 | Volume: 313 | Issue: 13 | Pages: 1347