Citations 6
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
ENIGMA CHEK2 gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Stolařová, Lenka , Kleiblová, Petra , Šťastná, Barbora , Janatová, Markéta , Soukupová, Jana , Achatz, Maria Isabel , Ambrosone, Christine B. , Apostolou, Paraskevi , Arun, Banu , Auer, Paul L. , Bertelsen, Birgitte , Japan, Biobank, Kamatani, Yoichiro, Morisaki, Takayuki , Nagai, Akiko , Muto, Kaori , Murakami, Yoshinori , Furukawa, Yoichi , Yamanashi, Yuji , Nakamura, Yusuke , Momozawa, Yukihide , Ohnishi, Yozo, Kubo, Michiaki , Higashiue, Shinichi , Kobayashi, Shuzo , Minami, Shiro, Yamaguhci, Hiroki, Arai, Hajime , Yamaji, Ken , Asai, Satoshi , Fujioka, Tomoaki, Obara, Wataru , Mori, Seijiro, Murayama, Shigeo , Miki, Yoshio , Masumoto, Akihide, Yamada, Akira , Nishizawa, Yasuko, Higashiyama, Masahiko, Kutsumi, Hiromu, Koretsune, Yukihiro , Blok, Marinus J. , Brunet, Joan , Calvello, Mariarosaria , Chen, Fei , Cortesi, Laura , Crujeiras-González, Ana , Černá, Marta , Hovhannisyan, Milena, Jelínková, Sandra , Nehasil, Petr , Macháčková, Eva , Krutilkova, Vera, Tavandzis, Spiros , Cerna, Leona, Chvojka, Štěpán, Koudová, Monika , Puchmajerová, Alena, Novotný, Jan , Veselá, Kamila , Hrušková, Lucie , Michalovska, Renata, Schwetzova, Denisa, Vlčková, Zdeňka, Černá, Monika, Hejnalová, Markéta, Jedlickova, Nikol, Šubrt, Ivan , Zavoral, Tomas, Kosařová, Marcela, Vacínová, Gabriela, Janíková, Mária , Kratochvílová, Romana , Curtisová, Václava , Vrtěl, Radek , Scheinost, Ondřej, Duskova, Petra, Putter, Robin De , Efremidis, Anna , Engel, Christoph , Evans, D. Gareth , Feliubadaló, Lídia , Fuentes-Ríos, Olivia , Gómez, E. , Haiman, Christopher A. , Hansen, Thomas van Overeem , Hodge, James M. , Huang, Hongyan , Ishak, Nur Diana Binte , Iwasaki, Yusuke , Konstantopoulou, Irene , Li, Na , Lindström, Sara , Lori, Adriana , Martinez, Elana, Martins, Alexandra , McInerny, Simone , Montagna, Marco , Mori, Luigi , Nathanson, Katherine L. , Patel, Alpa V. , Poppe, Bruce , Rosseel, Toon , Ruddy, Kathryn J. , Santos, Elizabeth Santana Dos , Vachon, Celine M. , Volk, Alexander E. , Weber‐Lassalle, Nana , Weitzel, Jeffrey N. , Yadav, Siddhartha , Zethoven, Magnus, Zhang, Ze Wen, Vega, Ana , Rossing, Maria , Valle, Jesús Del , Nicolo, Arcangela De , Hahnen, Eric , Ngeow, Joanne , Kleibl, Zdeněk , Chen, Chen , Zemankova, Petra , Stastna, Barbora , Janatova, Marketa , Soukupova, Jana , Achatz, M I , Ambrosone, Christine B , Apostolou, Paraskevi , Arun, Banu , Auer, Paul , Barnard, Mollie , Bertelsen, Birgitte , Blok, Marinus J , Boddicker, Nicholas J , Brunet, Joan , Burnside, Elizabeth S , Calvello, Mariarosaria , Campbell, Ian G , Chan, Sock Hoai , Chen, Fei , Chiang, Jian Bang , Coppa, Anna , Cortesi, Laura , Crujeiras-González, Ana , De Leeneer, Kim , de Putter, Robin , DePersia, Allison , Devereux, Lisa , Domchek, Susan M , Efremidis, Anna , Engel, Christoph , Ernst, Corinna , Evans, D Gareth , Feliubadaló, Lidia , Fostira, Florentia , Fuentes-Ríos, Olivia , Gómez-García, Encarna B , González, Sara , Haiman, Christopher A , Hansen, Thomas van Overeem , Hauke, Jan , Hodge, James M , Hu, Chunling , Huang, Hongyan , Ishak, Nur Diana Binte , Iwasaki, Yusuke , Konstantopoulou, Irene , Kraft, Peter , Lacey, James V. , Lazaro, Conxi , Li, Na , Lim, Weng Khong , Lindstrom, Sara , Lori, Adriana , Martı́nez, Marı́a Elena , Martins, Alexandra , Matsuda, Koichi , Matullo, Giuseppe , McInerny, Simone , Michailidou, Kyriaki , Montagna, Marco , Monteiro, Alvaro N , Mori, Luigi , Nathanson, Katherine L , Neuhausen, Susan L. , Nevanlinna, H , Olson, Janet E , Palmer, Julie R , Pasini, Barbara , Patel, Alpa V , Piane, Maria , Poppe, Bruce , Radice, Paolo , Renieri, Alessandra , Resta, Nicoletta , Richardson, Marcy E , Rosseel, Toon , Ruddy, Kathryn J , Santamariña, Marta , Dos Santos, Elizabeth Santana , Teras, Lauren R , Toland, Amanda Ewart , Trentham-Dietz, Amy , Vachon, Celine M. , Volk, Alexander E , Weber-Lassalle, Nana , Weitzel, Jeffrey N , Wiesmuller, Lisa , Winham, Stacey J , Yadav, Siddhartha , Yannoukakos, Drakoulis , Yao, Song , Zampiga, Valentina , Zethoven, Magnus , Zhang, Ze Wen , Zima, Tomas , Spurdle, Amanda B , Vega, Ana , Rossing, Maria , Del Valle, Jesús , De Nicolo, Arcangela , Hahnen, Eric , Claes, Kathleen B M , Ngeow, Joanne , Momozawa, Yukihide , James, Paul , Couch, Fergus J. , Macurek, Libor , Kleibl, Zdenek , Chen, C , Japan, Biobank, Kamatani, Yoichiro, Mushiroda, Taisei , Tanaka, Toshihiro , Yamaguhci, Hiroki, Okazaki, Yasushi , Takahashi, Yasuo , Nagayama, Satoshi , Yoshiyama, Takashi , Boddicker, Nicholas , Burnside, Elizabeth S. , Campbell, Ian , Borecká, Marianna , Foretová, Lenka , Havránek, Ondřej , Vočka, Michal , Michalovska, Renata, Schwetzova, Denisa, Jedlickova, Nikol, Zavoral, Tomáš, Duskova, Petra, Stránecký, Viktor , Leeneer, Kim De , Domchek, Susan M. , González, Sara , Hauke, Jan , Hu, Chunling , Kraft, Peter , Lázaro, Conxi , Matullo, Giuseppe , Michailidou, Kyriaki , Monteiro, Álvaro N.A. , Nevanlinna, Heli , Olson, Janet E. , Palmer, Julie R. , Pasini, Barbara , Radice, Paolo , Renieri, Alessandra , Santamariña, Marta , Teras, Lauren R. , Trentham‐Dietz, Amy , Wiesmüller, Lisa , Winham, Stacey J. , Yannoukakos, Drakoulis , Yao, Song , Zampiga, Valentina , Spurdle, Amanda B. , Claes, Kathleen , James, Paul A. , Couch, Fergus J.
Clinical Cancer Research | July 14, 2023 | Volume: 29 | Issue: 16 | Pages: 3037-3050
Abstract Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N = 102), functionally intermediate (N = 12), or functionally wild-type (WT)–like (N = 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with no clinically relevant breast cancer risk in heterozygous carriers.
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.
Characterization of the Cancer Spectrum in Men With GermlineBRCA1andBRCA2Pathogenic Variants
Silvestri, Valentina , Group, and the CIMBA, Agnarsson, Bjarni A. , Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L. , Barkardóttir, Rósa B. , Barroso, Alicia, Barrowdale, Daniel , Borg, Åke , Caldés, Trinidad , Claes, Kathleen , Cortesi, Laura , Ding, Yuan Chun , Easton, Douglas F. , Ejlertsen, Bent , Engel, Christoph , Evans, D. Gareth , Feliubadaló, Lídia , Géczi, Lajos , Glendon, Gord , Goldgar, David E. , Hahnen, Eric , Hogervorst, Frans B.L., Hulick, Peter J. , Izquierdo, Á. , James, Paul A. , Jensen, Uffe Birk , John, Esther M. , Konstantopoulou, Irene , Kurian, Allison W. , Kwong, Ava , Landucci, Elisabetta, Lesueur, Fabienne , Loud, Jennifer T. , Macháčková, Eva , Mai, Phuong L., Majidzadeh‐A, Keivan , Manoukian, Siranoush , Montagna, Marco , Nathanson, Katherine L. , Ngeow, Joanne , Ņikitina-Zaķe, Liene , Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I. , Osório, Ana , Park, Sue K. , Pedersen, Inge Søkilde , Petersen, Annabeth Høgh , Pinto, Pedro, Pujana, Miquel Angel, Rantala, Johanna, Rashid, Muhammad Usman , Rosenzweig, Barak , Rossing, Maria , Santamariña, Marta , Schmutzler, Rita K., Simard, Jacques , Solano, Ángela R. , Steele, Linda , Steinsnyder, Zoe , Tan, Yen Y. , Teixeira, Manuel R. , Teo, Soo‐Hwang , Terry, Mary Beth , Thomassen, Mads, Torres‐Esquius, Sara , Tung, Nadine, Vega, Ana , Viel, Alessandra , Vierstraete, Jeroen , Wappenschmidt, Barbara , Weitzel, Jeffrey N. , Wieme, Greet , Yoon, Sook‐Yee , McGuffog, Lesley, Hamann, Ute, Greene, Mark H. , Kirk, Judy A., Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Friedman, Eitan, Durocher, Francine , Pujana, Miguel Ángel , Hulick, Peter J , James, Paul , Lesueur, Fabienne , Pujana, Miquel Angel , Teixeira, Manuel R , Teo, Soo H , Vega, Ana , Weitzel, Jeffrey N , Claes, Kathleen B M , Evans, D Gareth , John, Esther M , Konstantopoulou, Irene , Olopade, Olufunmilayo I , Silvestri, Valentina , Wieme, Greet , Nathanson, Katherine L , Barrowdale, Daniel , Cortesi, Laura , Engel, Christoph , Izquierdo, Angel , Montagna, Marco , Pinto, Pedro , Viel, Alessandra , Simard, Jacques , Chenevix-Trench, Georgia , Kurian, Allison W , Rashid, Muhammad U , Feliubadaló, Lidia , Santamariña, Marta , Ngeow, Joanne , Manoukian, Siranoush , Terry, Mary Beth , Kwong, Ava , Leslie, Goska , Barnes, Daniel R. , Group, and the CIMBA, Benı́tez, Javier , Bonanni, Bernardo , Borg, Åke , Buys, Saundra S. , Caligo, Maria A. , Capalbo, Carlo , Campbell, Ian , Chung, Wendy K. , Colonna, Sarah V. , Couch, Fergus J. , Hoya, Miguel de la , Dı́ez, Orland , Domchek, Susan M. , Foretová, Lenka , Fostira, Florentia , Gerdes, Anne‐Marie , Godwin, Andrew K. , Hopper, John L. , Isaacs, Claudine , Janavičius, Ramūnas , Vijai, Joseph , Mai, Phuong L., Moserle, Lidia , Mulligan, Anna Marie , Nevanlinna, Heli , Olah, Edith, Papi, Laura , Perez-Segura, Pedro , Porfirio, Berardino , Radice, Paolo , Senter, Leigha , Singer, Christian F. , Southey, Melissa C. , Stoppa‐Lyonnet, Dominique , Toland, Amanda Ewart , Tung, Nadine , Asperen, Christi J. van , Zorn, Kristin K. , Parsons, Michael T. , Neuhausen, Susan L. , Rebbeck, Timothy R. , Tischkowitz, Marc D. , Friedman, Eitan, Ottini, Laura
JAMA Oncology | July 2, 2020 | Volume: 6 | Issue: 8 | Pages: 1218
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.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Parsons, Michael T. , Tudini, Emma , Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lídia , Aalfs, Cora M. , Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción , Arnold, Norbert, Auber, Bernd , Austin, Rachel , Azzollini, Jacopo , Balmañà, Judith , Bartram, Claus R., Blümcke, Britta, Bonache, Sandra , Bonanni, Bernardo, Borg, Åke , Bortesi, Beatrice, Brunet, Joan , Bruzzone, Carla, Bucksch, Karolin , Cagnoli, Giulia , Caldés, Trinidad, Caliebe, Almuth , Calvello, Mariarosaria , Capone, Gabriele Lorenzo, Caputo, Sandrine M. , Carrasco, Estela , Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia , Clarke, Edward , Cops, Elisa J., Cortesi, Laura , Couch, Fergus J., Darder, Esther , Debatin, Irmgard, Valle, Jesús Del , Delnatte, Capucine, Derive, Nicolas , Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana , Ehrencrona, Hans , Enders, Ute, Evans, D. Gareth , Farra, Chantal, Faust, Ulrike , Felbor, Ute , Feroce, Irène , Fine, Miriam, Galvão, Henrique C.R. , Gambino, Gaetana , Gehrig, Andrea, Gensini, Francesca , Germani, Aldo , Giesecke, J, Gómez, Carolina, Garcia, Encarna B., González, Sara , Grau, Èlia, Grill, Sabine , Groß, Eva, Guillaud‐Bataille, Marine , Gutiérrez‐Enríquez, Sara , Haaf, Thomas, Hackmann, Karl , Hansen, Thomas van Overeem , Harris, Marion, Hauke, Jan , Heinrich, T., Hellebrand, Heide, Herold, Karen, Honisch, Ellen, Horváth, Judit , Houdayer, Claude , Hübbel, Verena, Iglesias, Sílvia, Izquierdo, Á. , James, Paul A. , Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke , Keupp, Katharina, Kiechle, Marion , Kölbl, Alexandra C., Krieger, Sophie , Kruse, Torben A., Kvist, Anders , Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa , Lautrup, Charlotte Kvist , Ledig, Susanne, Leinert, Elena , Lim, Joanna , Loeffler, Markus, López‐Fernández, Adrià , Lucci‐Cordisco, Emanuela , Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica , Matricardi, Laura , Meindl, Alfons , Michelli, Rodrigo D., Moghadasi, Setareh , Moles‐Fernández, Alejandro , Montagna, Marco , Montalban, Gemma , Monteiro, Álvaro N.A. , Montes, Eva, Mori, Luigi , Müller, Clemens R., Mundhenke, Christoph , Naldi, Nadia, Nathanson, Katherine L. , Navarro, Matilde, Nichols, Cassandra , Niederacher, Dieter , Nielsen, Henriette Roed, Ong, Kai‐Ren , Pachter, Nicholas , Palmero, Edenir Inêz , Pedersen, Inge Søkilde , Peissel, Bernard , Pfeifer, Katharina, Pineda, Marta , Pohl‐Rescigno, Esther, Quante, Anne S. , Ramser, Juliane, Reis, Rui Manuel , Révillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela , Rofes, Paula , Rump, Andreas , Salinas, Mónica, Abajo, A.M. SÁnchez De, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Stiller, Mathias , Sullivan, Kelly J., Susman, Rachel , Sutter, Christian , Tavtigian, Sean V. , Teo, Soo‐Hwang , Thomassen, Mads, Tibiletti, Maria Grazia , Tognazzo, Silvia , Tornero, Eva , Törngren, Therese , Torres‐Esquius, Sara , Trainer, Alison, Tucker, Kathy , Asperen, Christi J. van, Mackelenbergh, Marion van , Varesco, Liliana, Vargas‐Parra, Gardenia , Varon, Raymonda, Vega, Ana , Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra , Vreeswijk, Maaike P.G. , Wagner, Sebastian , Waha, Anke, Walker, Logan C., Walters, Rhiannon, Wang‐Gohrke, Shan , Weber, Bernhard , Weichert, Wilko , Wieland, Kerstin, Wöckel, Achim , Woodward, Emma R. , Zachariae, Silke , Zampiga, Valentina , Zeder-Göß, C, Investigators, KConFab, Lázaro, Conxi, Nicolo, Arcangela De , Radice, Paolo , Engel, Christoph , Schmutzler, Rita K., Goldgar, David E. , Manoukian, Siranoush , Gómez, E. , Houdayer, Claude , de la Hoya, Miguel , Diez, Orland , Eccles, Diana , Gutiérrez-Enríquez, Sara , Susman, Rachel , Tavtigian, Sean V , Toland, Amanda Ewart , Toss, Angela , Vega, Ana , Vreeswijk, Maaike P G , Woodward, Emma R , Radice, Paolo , Spurdle, Amanda B , James, Paul , Parsons, Michael T , Teo, Soo H , Monteiro, Alvaro N , Auber, Bernd , Azzollini, Jacopo , Brunet, Joan , Darder, Esther , Ehrencrona, Hans , Evans, D Gareth , Matricardi, Laura , Palmero, Edenir I , Nathanson, Katherine L , Pineda, Marta , Cini, Giulia , Cortesi, Laura , Del Valle, Jesús , Engel, Christoph , Izquierdo, Angel , Montagna, Marco , Rump, Andreas , Viel, Alessandra , Reis, Rui Manuel , Montalban, Gemma , Calvello, Mariarosaria , Feliubadaló, Lidia , Gómez-García, Encarna B , González, Sara , Hansen, Thomas van Overeem , Hauke, Jan , Zampiga, Valentina , De Nicolo, Arcangela , Manoukian, Siranoush , Li, Hongyan , Hahnen, Eric , Agata, Simona , Barbieri, Elena , Blanco, Ana , Bonanni, Bernardo , Bruzzone, Carla, Caligo, Maria A. , Carnevali, Ileana Wanda , Cavalli, Pietro , Concolino, Paola , Hoya, Miguel de la , Dean, Michael , Dı́ez, Orland , Farra, Chantal, Foulkes, William D. , Gerdes, Anne‐Marie , Gismondi, Viviana , Garcia, Encarna B., Guerrieri‐Gonzaga, Aliana , Guillaud-Bataille, Marine , Jeschke, Udo , Lewis, Alexandra L. , Loeffler, Markus, Meindl, Alfons , Moserle, Lidia , Navarro, Matilde, Nevanlinna, Heli , Papi, Laura , Perez-Segura, Pedro , Pohl‐Rescigno, Esther, Poplawski, Nicola Kazia , Porfirio, Berardino , Révillion, Françoise, Rhiem, Kerstin , Steinemann, Doris , Stoppa‐Lyonnet, Dominique , Sullivan, Kelly J., Teulé, Àlex , Tischkowitz, Marc D. , Asperen, Christi J. van , Varesco, Liliana , Velasco, Àngela , Weber, Bernhard H. F., Wiesmüller, Lisa , Witzel, Isabell , Investigators, kConFab, Lázaro, Conxi, Spurdle, Amanda B. , Balmaña, Judith , Austin, Rachel
Human Mutation | May 27, 2019 | Volume: 40 | Issue: 9 | Pages: 1557-1578