Li, Hongyan; Engel, Christoph; de la Hoya, Miguel; Peterlongo, Paolo; Yannoukakos, Drakoulis; Livraghi, Luca; Radice, Paolo; Thomassen, Mads; Hansen, Thomas V. O.; Gerdes, Anne-Marie; Nielsen, Henriette R.; Caputo, Sandrine M.; Zambelli, Alberto; Borg, Ake; Solano, Angela; Thomas, Abigail; Parsons, Michael T.; Antoniou, Antonis C.; Leslie, Goska; Yang, Xin; Chenevix-Trench, Georgia; Caldes, Trinidad; Kwong, Ava; Pedersen, Inge Sokilde; Lautrup, Charlotte K.; John, Esther M.; Terry, Mary Beth; Hopper, John L.; Southey, Melissa C.; Andrulis, Irene L.; Tischkowitz, Marc; Janavicius, Ramunas; Boonen, Susanne E.; Kroeldrup, Lone; Varesco, Liliana; Hamann, Ute; Vega, Ana; Palmero, Edenir, I; Garber, Judy; Montagna, Marco; Van Asperen, Christi J.; Foretova, Lenka; Greene, Mark H.; Selkirk, Tina; Moller, Pal; Toland, Amanda E.; Domchek, Susan M.; James, Paul A.; Thorne, Heather; Eccles, Diana M.; Nielsen, Sarah M.; Manoukian, Siranoush; Pasini, Barbara; Caligo, Maria A.; Lazaro, Conxi; Kirk, Judy; Wappenschmidt, Barbara; Spurdle, Amanda B.; Couch, Fergus J.; Schmutzler, Rita; Goldgar, David E.

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer

HUMAN MUTATION

IF3.7

2020-12-2838

OAAI

Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients

FRONTIERS IN ONCOLOGY

IF3.3

2020-10-0210

OAAI

XAF1 as a modifier of p53 function and cancer susceptibility

SCIENCE ADVANCES

IF12.5

2020-06-2641

OAAI

Pinto, Emilia M.; Figueiredo, Bonald C.; Chen, Wenan; Galvao, Henrique C. R.; Formiga, Maria Nirvana; Fragoso, Maria Candida B., V; Ashton-Prolla, Patricia; Ribeiro, Enilze M. S. F.; Felix, Gabriela; Costa, Tatiana E. B.; Savage, Sharon A.; Yeager, Meredith; Palmero, Edenir, I; Volc, Sahlua; Salvador, Hector; Luis Fuster-Soler, Jose; Lavarino, Cinzia; Chantada, Guillermo; Vaur, Dominique; Odone-Filho, Vicente; Brugieres, Laurence; Else, Tobias; Stoffel, Elena M.; Maxwell, Kara N.; Achatz, Maria Isabel; Kowalski, Luis; de Andrade, Kelvin C.; Pappo, Alberto; Letouze, Eric; Latronico, Ana Claudia; Mendonca, Berenice B.; Almeida, Madson Q.; Brondani, Vania B.; Bittar, Camila M.; Soares, Emerson W. S.; Mathias, Carolina; Ramos, Cintia R. N.; Machado, Moara; Zhou, Weiyin; Jones, Kristine; Vogt, Aurelie; Klincha, Payal P.; Santiago, Karina M.; Komechen, Heloisa; Paraizo, Mariana M.; Parise, Ivy Z. S.; Hamilton, Kayla, V; Wang, Jinling; Rampersaud, Evadnie; Clay, Michael R.; Murphy, Andrew J.; Lalli, Enzo; Nichols, Kim E.; Ribeiro, Raul C.; Rodriguez-Galindo, Carlos; Korbonits, Marta; Zhang, Jinghui; Thomas, Mark G.; Connelly, Jon P.; Pruett-Miller, Shondra; Diekmann, Yoan; Neale, Geoffrey; Wu, Gang; Zambetti, Gerard P.

miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil

BMC CANCER

IF3.4

2020-02-2210

OAAI

Reclassification of variant of unknown significance in BRCA1 and BRCA2 genes based on loss of heterozigosity assay

CANCER RESEARCH

IF16.6

2020-02-150

PRE

Genetic cancer risk assessment: A screenshot of the psychosocial profile of women at risk for hereditary breast and ovarian cancer syndrome

PSYCHO-ONCOLOGY

IF3.5

2020-02-064

PREAI

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

BRCA1和BRCA2变异的大规模多因素可能性定量分析: 支持临床变异分类的ENIGMA资源

HUMAN MUTATION

IF3.7

2019-09-01102

OAAI

Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadalo, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomaki, Kristiina; Alducci, Elisa; Concepcion Alonso-Cerezo, Maria; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmana, Judith; Barbieri, Elena; Bartram, Claus R.; Blanco, Ana; Bluemcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Ake; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldes, 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, Jesus; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M.; Dutrannoy, Veronique; Eccles, Diana M.; Ehrencrona, Hans; Enders, Ute; Evans, D. Gareth; Farra, Chantal; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Foulkes, William D.; Galvao, Henrique Cr; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gomez, Carolina; Garcia, Encarna B. Gomez; Gonzalez, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutierrez-Enriquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas Vo; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N.; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Huebbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A.; Janssen, Linda Am; Jeschke, Udo; Kaulfuss, Silke; Keupp, Katharina; Kiechle, Marion; Koelbl, Alexandra; Krieger, Sophie; Kruse, Torben A.; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L.; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L.; Lim, Joanna; Loeffler, Markus; Lopez-Fernandez, Adria; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D.; Moghadasi, Setareh; Moles-Fernandez, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N.; Montes, Eva; Mori, Luigi; Moserle, Lidia; Mueller, Clemens R.; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L.; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B.; Niederacher, Dieter; Nielsen, Henriette R.; Ong, Kai-ren; Pachter, Nicholas; Palmero, Edenir, I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K.; Porfirio, Berardino; Quante, Anne S.; Ramser, Juliane; Reis, Rui M.; Revillion, Francoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sanchez de Abajo, Ana Maria; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiss, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J.; Susman, Rachel; Sutter, Christian; Tavtigian, Sean, V; Teo, Soo H.; Teule, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E.; Tornero, Eva; Torngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H.; Tucker, Katherine M.; van Asperen, Christi J.; van Mackelenbergh, Marion T.; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Angela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P. G.; Wagner, Sebastian A.; Waha, Anke; Walker, Logan C.; Walters, Rhiannon J.; Wang-Gohrke, Shan; Weber, Bernhard H. F.; Weichert, Wilko; Wieland, Kerstin; Wiesmueller, Lisa; Witzel, Isabell; Woeckel, Achim; Woodward, Emma R.; Zachariae, Silke; Zampiga, Valentina; Zeder-Goss, Christine; Lazaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K.; Goldgar, David E.; Spurdle, Amanda B.

A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries

EUROPEAN JOURNAL OF CANCER

IF7.1

2019-09-0117

PREAI

Della Valle, Adriana; Rossi, Benedito Mauro; Palmero, Edenir Inez; Antelo, Marina; Alberto Vaccaro, Carlos; Lopez-Kostner, Francisco; Alvarez, Karin; Cruz-Correa, Marcia; Ines Bruno, Luisina; Forones, Nora Manoukian; Rugeles Mindiola, Jorge Andres; Buleje, Jose; Spirandelli, Florencia; Bohorquez, Mabel; Maria Cock-Rada, Alicia; Sullcahuaman, Yasser; Nascimento, Ivana; Abe-Sandes, Kiyoko; Lino-Silva, Leonardo S.; Petracchi, Florencia; Mampel, Alejandra; Rodriguez, Yeni; Teresa Rossi, Norma; Benavides Yanez, Claudio; Rubio, Cladelis; Petta-Lajus, Tirzah Braz; Lemos Silveira-Lucas, Elizabeth; Jimenez, Geiner; Muneton Pena, Carlos Mario; Reyes-Silva, Carlos; de la Luz Ayala-Madrigal, Maria; Sanchez del Monte, Julio; Quispe, Richard; Recalde, Alcides; Neffa, Florencia; Sarroca, Carlos; Reis Galvao, Henrique de Campos; Golubicki, Mariano; Pinero, Tamara A.; Kalfayan, Pablo G.; Alejandra Ferro, Fabiana; Laura Gonzalez, Maria; Perez-Mayoral, Julyann; Marques Pimenta, Celia Aparecida; Bello Uyaban, Sandra Patricia; Protzel, Ana; Chavez, Guiliana; Duenas, Milagros; Guevara Gil, Maria Luisa; Spirandelli, Enrique; Chialina, Sergio; Echeverry, Magdalena; Palacios Fuenmayor, Luis Jose; Torres, Mariela; Bonfim Palma, Thais F.; Cambados Heritas, Nadia; Martin, Claudia; Suarez, Alfonso; Vallejo, Michael; de Souza Timoteo, Ana Rafaela; Afanador Ayala, Carlos; Jaramillo-Koupermann, Gabriela; Arturo Hernandez-Sandoval, Jesus; Hernandez Guerrero, Angelica; Dominguez-Barrera, Constantino; Carlos Bazo-Alvarez, Juan; Wernhoff, Patrik; Plazzer, John-Paul; Balavarca, Yesilda; Hovig, Eivind; Moller, Pal; Dominguez-Valentin, Mev

BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

非洲血统或血统妇女的BRCA1和BRCA2致病序列变异

HUMAN MUTATION

IF3.7

2019-07-0329

OAAI

Friebel, Tara M.; Andrulis, Irene L.; Balmana, Judith; Blanco, Amie M.; Couch, Fergus J.; Daly, Mary B.; Domchek, Susan M.; Easton, Douglas F.; Foulkes, William D.; Ganz, Patricia A.; Garber, Judy; Glendon, Gord; Greene, Mark H.; Hulick, Peter J.; Isaacs, Claudine; Jankowitz, Rachel C.; Karlan, Beth Y.; Kirk, Judy; Kwong, Ava; Lee, Annette; Lesueur, Fabienne; Lu, Karen H.; Nathanson, Katherine L.; Neuhausen, Susan L.; Offit, Kenneth; Palmero, Edenir I.; Sharma, Priyanka; Tischkowitz, Marc; Toland, Amanda E.; Tung, Nadine; van Rensburg, Elizabeth J.; Vega, Ana; Weitzel, Jeffrey N.; Hoskins, Kent F.; Maga, Tara; Parsons, Michael T.; McGuffog, Lesley; Antoniou, Antonis C.; Chenevix-Trench, Georgia; Huo, Dezheng; Olopade, Olufunmilayo I.; Rebbeck, Timothy R.

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America

INTERNATIONAL JOURNAL OF CANCER

IF4.7

2018-12-0519

OAAI

Alberto Vaccaro, Carlos; Lopez-Kostner, Francisco; Adriana, Della Valle; Palmero, Edenir Inez; Rossi, Benedito Mauro; Antelo, Marina; Solano, Angela; Carraro, Dirce Maria; Forones, Nora Manoukian; Bohorquez, Mabel; Lino-Silva, Leonardo S.; Buleje, Jose; Spirandelli, Florencia; Abe-Sandes, Kiyoko; Nascimento, Ivana; Sullcahuaman, Yasser; Sarroca, Carlos; Laura Gonzalez, Maria; Ignacio Herrando, Alberto; Alvarez, Karin; Neffa, Florencia; Galvao, Henrique Camposreis; Esperon, Patricia; Golubicki, Mariano; Cisterna, Daniel; Cardoso, Florencia C.; Torrezan, Giovana Tardin; Aguiar Junior, Samuel; Marques Pimenta, Celia Aparecida; da Cruz Formiga, Maria Nirvana; Santos, Erika; Sa, Caroline U.; Oliveira, Edite P.; Fujita, Ricardo; Spirandelli, Enrique; Jimenez, Geiner; Cruz Guindalini, Rodrigo Santa; Meira Velame de Azevedo, Renata Gondim; Mario Bueno, Larissa Souza; dos Santos Nogueira, Sonia Tereza; Torres Loarte, Mariela; Padron, Jorge; del Carmen Castro-Mujica, Maria; Sanchez del Monte, Julio; Caballero, Carmelo; Muneton Pena, Carlos Mario; Pinto, Joseph; Barletta-Carrillo, Claudia; Angulo Melva, Gutierrez; Pinero, Tamara; Montenegro Beltran, Paola; Ashton-Prolla, Patricia; Rodriguez, Yenni; Quispe, Richard; Teresa Rossi, Norma; Martin, Claudia; Chialina, Sergio; German Kalfayan, Pablo; Carlos Bazo-Alvarez, Juan; Recalde Canete, Alcides; Dominguez-Barrera, Constantino; Nunez, Lina; Da Silva, Sabrina Daniela; Balavarca, Yesilda; Wernhoff, Patrik; Plazzer, John-Paul; Moller, Pal; Hovig, Eivind; Dominguez-Valentin, Mev

The germline mutational landscape of BRCA1 and BRCA2 in Brazil

SCIENTIFIC REPORTS

IF3.9

2018-06-1535

OAAI

Palmero, Edenir Inez; Carraro, Dirce Maria; Alemar, Barbara; Martins Moreira, Miguel Angelo; Ribeiro-dos-Santos, Andrea; Abe-Sandes, Kiyoko; Reis Galvao, Henrique Campos; Reis, Rui Manuel; Souza, Cristiano de Padua; Campacci, Natalia; Achatz, Maria Isabel; Brianese, Rafael Canfield; da Cruz Formiga, Maria Nirvana; Makdissi, Fabiana Baroni; Vargas, Fernando Regla; Evangelista dos Santos, Anna Claudia; Seuanez, Hector N.; Lobo de Souza, Kelly Rose; Netto, Cristina B. O.; Santos-Silva, Patricia; da Silva, Gustavo Stumpf; Burbano, Rommel M. R.; Santos, Sidney; Assumpcao, Paulo Pimentel; Monteiro Bernardes, Izabel Maria; Bonfim Machado-Lopes, Taisa Manuela; Bomfim, Thais Ferreira; Pereira Toralles, Maria Betania; Nascimento, Ivana; Garicochea, Bernardo; Simon, Sergio D.; Noronha, Simone; de Lima, Fernanda Teresa; Chami, Anisse Marques; Bittar, Camila Matzenbacher; Bines, Jose; Artigalas, Osvaldo; Esteves-Diz, Maria Del Pilar; Petta Lajus, Tirzah Braz; Vieira Costa Gifoni, Ana Carolina Leite; Guindalini, Rodrigo S. C.; Cintra, Terezinha Sarquis; Schwartz, Ida V. D.; Bernardi, Pricila; Miguel, Diego; dos Santos Nogueira, Sonia Tereza; Herzog, Josef; Weitzel, Jeffrey N.; Ashton-Prolla, Patricia

Evaluation of MLH1 variants of unclear significance

意义不明的MLH1变异体的评估

GENES CHROMOSOMES & CANCER

IF2.8

2018-04-3011

OAAI

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

BMC CANCER

IF3.4

2017-09-0539

OAAI

Rossi, Benedito Mauro; Palmero, Edenir Inez; Lopez-Kostner, Francisco; Sarroca, Carlos; Alberto Vaccaro, Carlos; Spirandelli, Florencia; Ashton-Prolla, Patricia; Rodriguez, Yenni; Reis Galvao, Henrique de Campos; Reis, Rui Manuel; de Paula, Andre Escremim; Capochin Romagnolo, Luis Gustavo; Alvarez, Karin; Della Valle, Adriana; Neffa, Florencia; German Kalfayan, Pablo; Spirandelli, Enrique; Chialina, Sergio; Gutierrez Angulo, Melva; del Carmen Castro-Mujica, Maria; Sanchez de Monte, Julio; Quispe, Richard; da Silva, Sabrina Daniela; Teresa Rossi, Norma; Barletta-Carrillo, Claudia; Revollo, Susana; Taborga, Ximena; Morillas, L. Lena; Tubeuf, Helene; Monteiro-Santos, Erika Maria; Alejandra Pinero, Tamara; Dominguez-Barrera, Constantino; Wernhoff, Patrik; Martins, Alexandra; Hovig, Eivind; Moller, Pal; Dominguez-Valentin, Mev

Edenir Inêz Palmero

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