Citations 2
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
Breast and Prostate Cancer Risks for MaleBRCA1andBRCA2Pathogenic Variant Carriers Using Polygenic Risk Scores
Barnes, Daniel R. , Silvestri, Valentina , Leslie, Goska , McGuffog, Lesley, Yang, Xin , Adlard, Julian , Agnarsson, Bjarni A. , Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L. , Arason, Aðalgeir , Azzollini, Jacopo , Barkardóttir, Rósa B. , Barrowdale, Daniel , Belotti, Muriel, Berthet, Pascaline, Boonen, Susanne E. , Borg, Åke , Brady, Angela F., Brewer, Carole, Brunet, Joan , Bucalo, Agostino, Caldés, Trinidad , Cassingham, Hayley , Christensen, Lise Lotte , Cini, Giulia , Claes, Kathleen , Collaborators, GEMO Study, Collaborators, EMBRACE, Cortesi, Laura , Damante, Giuseppe , Darder, Esther , Davidson, Rosemarie, Leeneer, Kim De , Putter, Robin De , Valle, Jesús Del , Ding, Yuan Chun , Donaldson, Alan , Eason, Jacqueline , Eeles, Rosalind A. , Engel, Christoph , Evans, D. Gareth , Feliubadaló, Lídia , Frone, Megan N. , Frost, Debra, Gehrig, Andrea, Giraud, Sophie , Glendon, Gord , Goldgar, David E. , Greene, Mark H. , Gregory, Helen , Groß, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas van Overeem , Hanson, Helen , Horváth, Judit , Investigators, KConFab, Investigators, HEBON, Izatt, Louise , James, Paul A. , Janavičius, Ramūnas , Jensen, Uffe Birk , Johannsson, Oskar T., John, Esther M. , Kramer, Gero , Kroeldrup, Lone , Kruse, Torben A. , Lautrup, Charlotte Kvist , López‐Fernández, Adrià , Mai, Phuong L, Manoukian, Siranoush , Mátrai, Zoltán , Matricardi, Laura , Mebirouk, Noura, Meindl, Alfons , Montagna, Marco , Monteiro, Álvaro N.A. , Morrison, Patrick J. , Muranen, Taru , Nathanson, Katherine L. , Niederacher, Dieter , Oláh, Edith , Olopade, Olufunmilayo I. , Pedersen, Inge Søkilde , Peissel, Bernard , Peterlongo, Paolo , Petersen, Annabeth Høgh , Pinto, Pedro, Porteous, Mary, Pottinger, Caroline , Pujana, Miquel Angel, Ramser, Juliane, Rantala, Johanna, Rogers, Mark T., Rønlund, Karina, Abajo, A.M. SÁnchez De, Shah, Payal D. , Sharif, Saba , Side, Lucy, Stadler, Zsofia, Steele, Linda , Sutter, Christian , Tan, Yen Y. , Teixeira, Manuel R. , Teulé, Àlex , Thull, Darcy L. , Trainer, Alison H., Tripathi, Vishakha , Valentini, Virginia , Viel, Alessandra , Walker, Lisa, Wang‐Gohrke, Shan , Wappenschmidt, Barbara , Whaite, Anna , Offit, Kenneth, Thomassen, Mads , Schmutzler, Rita K., Simard, Jacques , Easton, Douglas F. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Pujana, Miguel Ángel , Dennis, Joe , Yang, Xin , Adlard, Julian , Agnarsson, Bjarni A , Andrulis, Irene L , Arason, Adalgeir , Arnold, Norbert , Auber, Bernd , Azzollini, Jacopo , Barkardottir, Rosa B , Barrowdale, Daniel , Benitez, Javier , Boonen, Susanne E , Bozsik, Aniko , Brennan, Paul , Brunet, Joan , Bucalo, Agostino , Caligo, Maria A , Campbell, Ian G , Cassingham, Hayley , Cini, Giulia , Claes, Kathleen B M , Coppa, Anna , Cortesi, Laura , Darder, Esther , de la Hoya, Miguel , de Putter, Robin , Del Valle, Jesús , Domchek, Susan M , Donaldson, Alan , Eason, Jacqueline , Engel, Christoph , Fostira, Florentia , Frone, Megan , Glendon, Gord , Godwin, Andrew K. , Greene, Mark H , Hahnen, Eric , Hanson, Helen , Izatt, Louise , Izquierdo, Angel , James, Paul , John, Esther M , Kroeldrup, Lone , Kruse, Torben A , Lazaro, Conxi , Lesueur, Fabienne , Matrai, Zoltan , Montagna, Marco , Monteiro, Alvaro N , Morrison, Patrick J , Muranen, Taru A , Nathanson, Katherine L , Neuhausen, Susan L. , Nevanlinna, H , Nguyen-Dumont, Tu , Niederacher, Dieter , Palli, Domenico , Parsons, Michael T , Perez-Segura, Pedro , Peterlongo, Paolo , Pinto, Pedro , Pottinger, Caroline , Radice, Paolo , Robson, Mark , Rump, Andreas , Sharif, Saba , Steele, Linda , Stoppa-Lyonnet, Dominique , Teixeira, Manuel R , Thull, Darcy L , Tischkowitz, Marc D. , Toland, Amanda Ewart , Tommasi, Stefania , Toss, Angela , Tripathi, Vishakha , Valentini, Virginia , van Asperen, Christi J , Venturelli, Marta , Viel, Alessandra , Joseph, Vijai , Whaite, Anna , Simard, Jacques , Easton, Doug , Chenevix-Trench, Georgia , Ottini, Laura , Barnes, Daniel R , Leslie, Goska , Pujana, Miquel Angel , Eeles, Rosalind A , Evans, D Gareth , Matricardi, Laura , Olopade, Olufunmilayo I , Silvestri, Valentina , De Leeneer, Kim , Feliubadaló, Lidia , Hansen, Thomas van Overeem , Manoukian, Siranoush , Arnold, Norbert , Auber, Bernd , Balmañà, Judith , Barwell, Julian , Benı́tez, Javier , Bozsik, Anikó , Brady, Angela F., Buys, Saundra S. , Caligo, Maria A. , Campbell, Ian , Collaborators, GEMO Study, Collaborators, EMBRACE, Cook, Jackie A , Hoya, Miguel de la , Dı́ez, Orland , Domchek, Susan M. , Gallagher, David James , Hentschel, Julia , Investigators, KConFab, Investigators, HEBON, Izquierdo, Á. , Lázaro, Conxi , Lesueur, Fabienne , Mai, Phuong L, Maxwell, Kara N. , Meindl, Alfons , Nevanlinna, Heli , Nguyen‐Dumont, Tú , Palli, Domenico , Parsons, Michael T. , Radice, Paolo , Robson, Mark E. , Rump, Andreas , Singer, Christian F. , Stoppa‐Lyonnet, Dominique , Asperen, Christi J. van , Vijai, Joseph , Zanna, Ines , Couch, Fergus J. , Ottini, Laura
JNCI: Journal of the National Cancer Institute | July 26, 2021 | Volume: 114 | Issue: 1 | Pages: 109-122
AbstractBackgroundRecent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.Methods483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)–negative (PRSER-), or ER-positive (PRSER+) breast cancer risk.ResultsPRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.ConclusionsPopulation-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.