Pesquisa | Biblioteca Virtual em Saúde

1.

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

Perry, John Rb; Day, Felix; Elks, Cathy E; Sulem, Patrick; Thompson, Deborah J; Ferreira, Teresa; He, Chunyan; Chasman, Daniel I; Esko, Tõnu; Thorleifsson, Gudmar; Albrecht, Eva; Ang, Wei Q; Corre, Tanguy; Cousminer, Diana L; Feenstra, Bjarke; Franceschini, Nora; Ganna, Andrea; Johnson, Andrew D; Kjellqvist, Sanela; Lunetta, Kathryn L; McMahon, George; Nolte, Ilja M; Paternoster, Lavinia; Porcu, Eleonora; Smith, Albert V; Stolk, Lisette; Teumer, Alexander; Tsernikova, Natalia; Tikkanen, Emmi; Ulivi, Sheila; Wagner, Erin K; Amin, Najaf; Bierut, Laura J; Byrne, Enda M; Hottenga, Jouke-Jan; Koller, Daniel L; Mangino, Massimo; Pers, Tune H; Yerges-Armstrong, Laura M; Zhao, Jing Hua; Andrulis, Irene L; Anton-Culver, Hoda; Atsma, Femke; Bandinelli, Stefania; Beckmann, Matthias W; Benitez, Javier; Blomqvist, Carl; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo.

Nature; 514(7520): 92-97, 2014 Oct 02.

Artigo em Inglês | MEDLINE | ID: mdl-25231870

2.

Association analysis identifies 65 new breast cancer risk loci.

Michailidou, Kyriaki; Lindström, Sara; Dennis, Joe; Beesley, Jonathan; Hui, Shirley; Kar, Siddhartha; Lemaçon, Audrey; Soucy, Penny; Glubb, Dylan; Rostamianfar, Asha; Bolla, Manjeet K; Wang, Qin; Tyrer, Jonathan; Dicks, Ed; Lee, Andrew; Wang, Zhaoming; Allen, Jamie; Keeman, Renske; Eilber, Ursula; French, Juliet D; Qing Chen, Xiao; Fachal, Laura; McCue, Karen; McCart Reed, Amy E; Ghoussaini, Maya; Carroll, Jason S; Jiang, Xia; Finucane, Hilary; Adams, Marcia; Adank, Muriel A; Ahsan, Habibul; Aittomäki, Kristiina; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Arun, Banu; Auer, Paul L; Bacot, François; Barrdahl, Myrto; Baynes, Caroline; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo.

Nature; 551(7678): 92-94, 2017 11 02.

Artigo em Inglês | MEDLINE | ID: mdl-29059683

3.

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Mavaddat, Nasim; Michailidou, Kyriaki; Dennis, Joe; Lush, Michael; Fachal, Laura; Lee, Andrew; Tyrer, Jonathan P; Chen, Ting-Huei; Wang, Qin; Bolla, Manjeet K; Yang, Xin; Adank, Muriel A; Ahearn, Thomas; Aittomäki, Kristiina; Allen, Jamie; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Auer, Paul L; Auvinen, Päivi; Barrdahl, Myrto; Beane Freeman, Laura E; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Bremer, Michael; Brenner, Hermann; Brentnall, Adam; Brock, Ian W; Brooks-Wilson, Angela; Brucker, Sara Y; Brüning, Thomas; Burwinkel, Barbara; Campa, Daniele; Carter, Brian D; Castelao, Jose E; Chanock, Stephen J; Chlebowski, Rowan; Christiansen, Hans; Clarke, Christine L.

Am J Hum Genet; 104(1): 21-34, 2019 01 03.

Artigo em Inglês | MEDLINE | ID: mdl-30554720

4.

Cancer: more genetic BRCA testing for men.

Marabelli, Monica; Calvello, Mariarosaria; Bonanni, Bernardo.

Nature; 573(7774): 346, 2019 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-31530924

5.

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman, Yael; Friebel, Tara M; Yannoukakos, Drakoulis; Fostira, Florentia; Konstantopoulou, Irene; Figlioli, Gisella; Bonanni, Bernardo; Manoukian, Siranoush; Zuradelli, Monica; Tondini, Carlo; Pasini, Barbara; Peterlongo, Paolo; Plaseska-Karanfilska, Dijana; Jakimovska, Milena; Majidzadeh, Keivan; Zarinfam, Shiva; Loizidou, Maria A; Hadjisavvas, Andreas; Michailidou, Kyriaki; Kyriacou, Kyriacos; Behar, Doron M; Molho, Rinat Bernstein; Ganz, Patricia; James, Paul; Parsons, Michael T; Sallam, Aminah; Olopade, Olufunmilayo I; Seth, Arun; Chenevix-Trench, Georgia; Leslie, Goska; McGuffog, Lesley; Marafie, Makia J; Megarbane, Andre; Al-Mulla, Fahd; Rebbeck, Timothy R; Friedman, Eitan.

Hum Mutat; 40(11): e1-e23, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31209999

6.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons, Michael T; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso-Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbieri, Elena; Bartram, Claus R; Blanco, Ana; Blümcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Åke; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Capone, Gabriele L; Caputo, Sandrine M; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M; Concolino, Paola; Cops, Elisa J; Cortesi, Laura; Couch, Fergus J; Darder, Esther; de la Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesús; Delnatte, Capucine.

Hum Mutat; 40(9): 1557-1578, 2019 09.

Artigo em Inglês | MEDLINE | ID: mdl-31131967

7.

Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.

Rizzolo, Piera; Zelli, Veronica; Silvestri, Valentina; Valentini, Virginia; Zanna, Ines; Bianchi, Simonetta; Masala, Giovanna; Spinelli, Alessandro Mauro; Tibiletti, Maria Grazia; Russo, Antonio; Varesco, Liliana; Giannini, Giuseppe; Capalbo, Carlo; Calistri, Daniele; Cortesi, Laura; Viel, Alessandra; Bonanni, Bernardo; Azzollini, Jacopo; Manoukian, Siranoush; Montagna, Marco; Peterlongo, Paolo; Radice, Paolo; Palli, Domenico; Ottini, Laura.

Int J Cancer; 145(2): 390-400, 2019 07 15.

Artigo em Inglês | MEDLINE | ID: mdl-30613976

8.

Genome-wide association study of germline variants and breast cancer-specific mortality.

Escala-Garcia, Maria; Guo, Qi; Dörk, Thilo; Canisius, Sander; Keeman, Renske; Dennis, Joe; Beesley, Jonathan; Lecarpentier, Julie; Bolla, Manjeet K; Wang, Qin; Abraham, Jean; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Auer, Paul L; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Blomqvist, Carl; Boeckx, Bram; Bojesen, Stig E; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Brenner, Hermann; Brentnall, Adam; Brinton, Louise; Broberg, Per; Brock, Ian W; Brucker, Sara Y; Burwinkel, Barbara; Caldas, Carlos; Caldés, Trinidad; Campa, Daniele; Canzian, Federico; Carracedo, Angel; Carter, Brian D; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; Cheng, Ting-Yuan David; Chin, Suet-Feung; Clarke, Christine L; Cordina-Duverger, Emilie; Couch, Fergus J; Cox, David G; Cox, Angela.

Br J Cancer; 120(6): 647-657, 2019 03.

Artigo em Inglês | MEDLINE | ID: mdl-30787463

9.

Prognostic impact of genetic variants of CYP19A1 and UGT2B17 in a randomized trial for endocrine-responsive postmenopausal breast cancer.

Johansson, Harriet; Aristarco, Valentina; Gandini, Sara; Gjerde, Jennifer; Macis, Debora; Guerrieri-Gonzaga, Aliana; Serrano, Davide; Lazzeroni, Matteo; Rajasekaran, Agnita; Williard, Clark V; Mellgren, Gunnar; DeCensi, Andrea; Bonanni, Bernardo.

Pharmacogenomics J; 2019 Apr 10.

Artigo em Inglês | MEDLINE | ID: mdl-30967597

10.

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.

Corso, Giovanni; Figueiredo, Joana; La Vecchia, Carlo; Veronesi, Paolo; Pravettoni, Gabriella; Macis, Debora; Karam, Rachid; Lo Gullo, Roberto; Provenzano, Elena; Toesca, Antonio; Mazzocco, Ketti; Carneiro, Fátima; Seruca, Raquel; Melo, Soraia; Schmitt, Fernando; Roviello, Franco; De Scalzi, Alessandra Margherita; Intra, Mattia; Feroce, Irene; De Camilli, Elisa; Villardita, Maria Grazia; Trentin, Chiara; De Lorenzi, Francesca; Bonanni, Bernardo; Galimberti, Viviana.

J Med Genet; 55(7): 431-441, 2018 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-29929997

11.

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Burke, Leslie J; Sevcik, Jan; Gambino, Gaetana; Tudini, Emma; Mucaki, Eliseos J; Shirley, Ben C; Whiley, Phillip; Parsons, Michael T; De Leeneer, Kim; Gutiérrez-Enríquez, Sara; Santamariña, Marta; Caputo, Sandrine M; Santana Dos Santos, Elizabeth; Soukupova, Jana; Janatova, Marketa; Zemankova, Petra; Lhotova, Klara; Stolarova, Lenka; Borecka, Mariana; Moles-Fernández, Alejandro; Manoukian, Siranoush; Bonanni, Bernardo; Edwards, Stacey L; Blok, Marinus J; van Overeem Hansen, Thomas; Rossing, Maria; Diez, Orland; Vega, Ana; Claes, Kathleen B M; Goldgar, David E; Rouleau, Etienne; Radice, Paolo; Peterlongo, Paolo; Rogan, Peter K; Caligo, Maria; Spurdle, Amanda B; Brown, Melissa A.

Hum Mutat; 39(12): 2025-2039, 2018 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-30204945

12.

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Colombo, Mara; Lòpez-Perolio, Irene; Meeks, Huong D; Caleca, Laura; Parsons, Michael T; Li, Hongyan; De Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Garcia, Encarna B Gómez; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmidt, Ane Y; Varesco, Liliana; Wappenschmidt, Barbara; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadel, Alicia; Benitez, Javier; Boeckx, Bram; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Chang-Claude, Jenny; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik.

Hum Mutat; 39(5): 729-741, 2018 May.

Artigo em Inglês | MEDLINE | ID: mdl-29460995

13.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck, Timothy R; Friebel, Tara M; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I; Solano, Angela R; Teo, Soo-Hwang; Thomassen, Mads; Weitzel, Jeffrey N; Chan, T L; Couch, Fergus J; Goldgar, David E; Kruse, Torben A; Palmero, Edenir Inêz; Park, Sue Kyung; Torres, Diana; van Rensburg, Elizabeth J; McGuffog, Lesley; Parsons, Michael T; Leslie, Goska; Aalfs, Cora M; Abugattas, Julio; Adlard, Julian; Agata, Simona; Aittomäki, Kristiina; Andrews, Lesley; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Balmaña, Judith; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Benitez, Javier; Berger, Andreas; Berger, Raanan; Blanco, Amie M; Blazer, Kathleen R; Blok, Marinus J; Bonadona, Valérie; Bonanni, Bernardo; Bradbury, Angela R; Brewer, Carole.

Hum Mutat; 39(5): 593-620, 2018 May.

Artigo em Inglês | MEDLINE | ID: mdl-29446198

14.

Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.

Silvestri, Valentina; Zelli, Veronica; Valentini, Virginia; Rizzolo, Piera; Navazio, Anna Sara; Coppa, Anna; Agata, Simona; Oliani, Cristina; Barana, Daniela; Castrignanò, Tiziana; Viel, Alessandra; Russo, Antonio; Tibiletti, Maria Grazia; Zanna, Ines; Masala, Giovanna; Cortesi, Laura; Manoukian, Siranoush; Azzollini, Jacopo; Peissel, Bernard; Bonanni, Bernardo; Peterlongo, Paolo; Radice, Paolo; Palli, Domenico; Giannini, Giuseppe; Chillemi, Giovanni; Montagna, Marco; Ottini, Laura.

Cancer; 123(2): 210-218, 2017 01 01.

Artigo em Inglês | MEDLINE | ID: mdl-27648926

15.

Anastrozole versus tamoxifen for the prevention of locoregional and contralateral breast cancer in postmenopausal women with locally excised ductal carcinoma in situ (IBIS-II DCIS): a double-blind, randomised controlled trial.

Forbes, John F; Sestak, Ivana; Howell, Anthony; Bonanni, Bernardo; Bundred, Nigel; Levy, Christelle; von Minckwitz, Gunter; Eiermann, Wolfgang; Neven, Patrick; Stierer, Michael; Holcombe, Chris; Coleman, Robert E; Jones, Louise; Ellis, Ian; Cuzick, Jack.

Lancet; 387(10021): 866-73, 2016 Feb 27.

Artigo em Inglês | MEDLINE | ID: mdl-26686313

16.

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Hamdi, Yosr; Soucy, Penny; Kuchenbaeker, Karoline B; Pastinen, Tomi; Droit, Arnaud; Lemaçon, Audrey; Adlard, Julian; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K; Azzollini, Jacopo; Bane, Anita; Barjhoux, Laure; Barrowdale, Daniel; Benitez, Javier; Berthet, Pascaline; Blok, Marinus J; Bobolis, Kristie; Bonadona, Valérie; Bonanni, Bernardo; Bradbury, Angela R; Brewer, Carole; Buecher, Bruno; Buys, Saundra S; Caligo, Maria A; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B M; Daly, Mary B; Damiola, Francesca; Davidson, Rosemarie; De la Hoya, Miguel; De Leeneer, Kim; Diez, Orland; Ding, Yuan Chun; Dolcetti, Riccardo; Domchek, Susan M; Dorfling, Cecilia M; Eccles, Diana; Eeles, Ros; Einbeigi, Zakaria; Ejlertsen, Bent; Engel, Christoph; Gareth Evans, D; Feliubadalo, Lidia; Foretova, Lenka; Fostira, Florentia; Foulkes, William D.

Breast Cancer Res Treat; 161(1): 117-134, 2017 01.

Artigo em Inglês | MEDLINE | ID: mdl-27796716

17.

Triple-Negative versus Non-Triple-Negative Breast Cancers in High-Risk Women: Phenotype Features and Survival from the HIBCRIT-1 MRI-Including Screening Study.

Podo, Franca; Santoro, Filippo; Di Leo, Giovanni; Manoukian, Siranoush; de Giacomi, Clelia; Corcione, Stefano; Cortesi, Laura; Carbonaro, Luca A; Trimboli, Rubina M; Cilotti, Anna; Preda, Lorenzo; Bonanni, Bernardo; Pensabene, Matilde; Martincich, Laura; Savarese, Antonella; Contegiacomo, Alma; Sardanelli, Francesco.

Clin Cancer Res; 22(4): 895-904, 2016 Feb 15.

Artigo em Inglês | MEDLINE | ID: mdl-26503945

18.

Impact of CYP19A1 and ESR1 variants on early-onset side effects during combined endocrine therapy in the TEXT trial.

Johansson, Harriet; Gray, Kathryn P; Pagani, Olivia; Regan, Meredith M; Viale, Giuseppe; Aristarco, Valentina; Macis, Debora; Puccio, Antonella; Roux, Susanne; Maibach, Rudolf; Colleoni, Marco; Rabaglio, Manuela; Price, Karen N; Coates, Alan S; Gelber, Richard D; Goldhirsch, Aron; Kammler, Roswitha; Bonanni, Bernardo; Walley, Barbara A.

Breast Cancer Res; 18(1): 110, 2016 11 08.

Artigo em Inglês | MEDLINE | ID: mdl-27825388

19.

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.

Zeng, Chenjie; Guo, Xingyi; Long, Jirong; Kuchenbaecker, Karoline B; Droit, Arnaud; Michailidou, Kyriaki; Ghoussaini, Maya; Kar, Siddhartha; Freeman, Adam; Hopper, John L; Milne, Roger L; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Agata, Simona; Ahmed, Shahana; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arason, Adalgeir; Arndt, Volker; Arun, Banu K; Arver, Brita; Bacot, Francois; Barrowdale, Daniel; Baynes, Caroline; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Blot, William J; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Brand, Judith S; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Buys, Saundra S; Cai, Qiuyin; Caldes, Trinidad; Campbell, Ian; Carpenter, Jane; Chang-Claude, Jenny; Choi, Ji-Yeob.

Breast Cancer Res; 18(1): 64, 2016 06 21.

Artigo em Inglês | MEDLINE | ID: mdl-27459855

20.

Benefit of low-dose tamoxifen in a large observational cohort of high risk ER positive breast DCIS.

Guerrieri-Gonzaga, Aliana; Sestak, Ivana; Lazzeroni, Matteo; Serrano, Davide; Rotmensz, Nicole; Cazzaniga, Massimiliano; Varricchio, Clara; Pruneri, Giancarlo; Leonardi, Maria Cristina; Orecchia, Roberto; Galimberti, Viviana; Bonanni, Bernardo; DeCensi, Andrea.

Int J Cancer; 139(9): 2127-34, 2016 Nov 01.

Artigo em Inglês | MEDLINE | ID: mdl-27381855

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