SAT-LB058 Effect of a Genetic Modifier of Cancer Risk in TP53 Mutation Carriers

por Pinto, Emilia, Figueiredo, Bonald, Galvao, Henrique, Fragoso, Maria, Ribeiro, Enilze, Diekmann, Yoan, Clay, Michael, Pounds, Stanley, Wu, Gang, Nichols, Kim, Ribeiro, Raul, Zambetti, Gerard
Publicado 2019

Genetic alterations detected by comparative genomic hybridization in BRCAX breast and ovarian cancers of Brazilian population

por Felicio, Paula Silva, Bidinotto, Lucas Tadeu, Melendez, Matias Eliseo, Grasel, Rebeca Silveira, Campacci, Natalia, Galvão, Henrique C.R., Scapulatempo-Neto, Cristovam, Dufloth, Rozany Mucha, Evangelista, Adriane Feijó, Palmero, Edenir Inêz
Publicado 2018

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome

por dos Santos, Wellington, de Andrade, Edilene Santos, Garcia, Felipe Antonio de Oliveira, Campacci, Natália, Sábato, Cristina da Silva, Melendez, Matias Eliseo, Reis, Rui Manuel, Galvão, Henrique de Campos Reis, Palmero, Edenir Inez
Publicado 2022

Cost-Effectiveness of BRCA 1/2 Genetic Test and Preventive Strategies: Using Real-World Data From an Upper-Middle Income Country

por Lourenção, Marina, Simões Correa Galendi, Julia, Galvão, Henrique de Campos Reis, Antoniazzi, Augusto Perazzolo, Grasel, Rebeca Silveira, Carvalho, André Lopes, Mauad, Edmundo Carvalho, de Oliveira, Jorge Henrique Caldeira, Reis, Rui Manuel, Mandrik, Olena, Palmero, Edenir Inêz
Publicado 2022

New insights on familial colorectal cancer type X syndrome

por Garcia, Felipe Antonio de Oliveira, de Andrade, Edilene Santos, de Campos Reis Galvão, Henrique, da Silva Sábato, Cristina, Campacci, Natália, de Paula, Andre Escremin, Evangelista, Adriane Feijó, Santana, Iara Viana Vidigal, Melendez, Matias Eliseo, Reis, Rui Manuel, Palmero, Edenir Inez
Publicado 2022

Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital

por Palmero, Edenir I., Galvão, Henrique C.R., Fernandes, Gabriela C., de Paula, André E., Oliveira, Junea C., Souza, Cristiano P., Andrade, Carlos E., Romagnolo, Luis G.C., Volc, Sahlua, C., Maximiliano, Sabato, Cristina, Grasel, Rebeca, Mauad, Edmundo, Reis, Rui M., Michelli, Rodrigo A.D.
Publicado 2016

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

por Rosset, Clévia, Vairo, Filippo, Bandeira, Isabel Cristina, Correia, Rudinei Luis, de Goes, Fernanda Veiga, da Silva, Raquel Tavares Boy, Bueno, Larissa Souza Mario, de Miranda Gomes, Mireille Caroline Silva, Galvão, Henrique de Campos Reis, Neri, João I. C. F., Achatz, Maria Isabel, Netto, Cristina Brinckmann Oliveira, Ashton-Prolla, Patricia
Publicado 2017

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

por Grasel, Rebeca Silveira, Felicio, Paula Silva, de Paula, André Escremim, Campacci, Natalia, Garcia, Felipe Antônio de Oliveira, de Andrade, Edilene Santos, Evangelista, Adriane Feijó, Fernandes, Gabriela Carvalho, Sabato, Cristina da Silva, De Marchi, Pedro, Souza, Cristiano de Pádua, de Paula, Cláudia Alessandra Andrade, Torrezan, Giovana Tardin, Galvão, Henrique de Campos Reis, Carraro, Dirce Maria, Palmero, Edenir Inêz
Publicado 2020

Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry

por Fernandes, Gabriela C., Michelli, Rodrigo A.D., Galvão, Henrique C.R., Paula, André E., Pereira, Rui, Andrade, Carlos E., Felicio, Paula S., Souza, Cristiano P., Mendes, Deise R.P., Volc, Sahlua, Berardinelli, Gustavo N., Grasel, Rebeca S., Sabato, Cristina S., Viana, Danilo V., Machado, José Carlos, Costa, José Luis, Mauad, Edmundo C., Scapulatempo-Neto, Cristovam, Arun, Banu, Reis, Rui M., Palmero, Edenir I.
Publicado 2016

The Brazilian TP53 mutation (R337H) and sarcomas

por Volc, Sahlua Miguel, Ramos, Cíntia Regina Niederauer, Galvão, Henrique de Campos Reis, Felicio, Paula Silva, Coelho, Aline Silva, Berardineli, Gustavo Noriz, Campacci, Natalia, Sabato, Cristina da Silva, Abrahao-Machado, Lucas Faria, Santana, Iara Viana Vidigal, Campanella, Nathalia, Lengert, André van Helvoort, Vidal, Daniel Onofre, Reis, Rui Manuel, Dantas, Caio F., Coelho, Robson C., Boldrini, Erica, Serrano, Sergio Vicente, Palmero, Edenir Inêz
Publicado 2020

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

por Felicio, Paula S., Grasel, Rebeca S., Campacci, Natalia, de Paula, Andre E., Galvão, Henrique C. R., Torrezan, Giovana T., Sabato, Cristina S., Fernandes, Gabriela C., Souza, Cristiano P., Michelli, Rodrigo D., Andrade, Carlos E., Barros, Bruna Durães De Figueiredo, Matsushita, Marcus M., Revil, Timothée, Ragoussis, Jiannis, Couch, Fergus J., Hart, Steven N., Reis, Rui M., Melendez, Matias E., Tonin, Patricia N., Carraro, Dirce M., Palmero, Edenir I.
Publicado 2020

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

por Rossi, Benedito Mauro, Palmero, Edenir Inêz, López-Kostner, Francisco, Sarroca, Carlos, Vaccaro, Carlos Alberto, Spirandelli, Florencia, Ashton-Prolla, Patricia, Rodriguez, Yenni, de Campos Reis Galvão, Henrique, Reis, Rui Manuel, Escremim de Paula, André, Capochin Romagnolo, Luis Gustavo, Alvarez, Karin, Della Valle, Adriana, Neffa, Florencia, Kalfayan, Pablo German, Spirandelli, Enrique, Chialina, Sergio, Gutiérrez Angulo, Melva, Castro-Mujica, Maria del Carmen, Sanchez de Monte, Julio, Quispe, Richard, da Silva, Sabrina Daniela, Rossi, Norma Teresa, Barletta-Carrillo, Claudia, Revollo, Susana, Taborga, Ximena, Morillas, L. Lena, Tubeuf, Hélène, Monteiro-Santos, Erika Maria, Piñero, Tamara Alejandra, Dominguez-Barrera, Constantino, Wernhoff, Patrik, Martins, Alexandra, Hovig, Eivind, Møller, Pål, Dominguez-Valentin, Mev
Publicado 2017

The germline mutational landscape of BRCA1 and BRCA2 in Brazil

por Palmero, Edenir Inêz, Carraro, Dirce Maria, Alemar, Barbara, Moreira, Miguel Angelo Martins, Ribeiro-dos-Santos, Ândrea, Abe-Sandes, Kiyoko, Galvão, Henrique Campos Reis, Reis, Rui Manuel, de Pádua Souza, Cristiano, Campacci, Natalia, Achatz, Maria Isabel, Brianese, Rafael Canfield, da Cruz Formiga, Maria Nirvana, Makdissi, Fabiana Baroni, Vargas, Fernando Regla, Evangelista dos Santos, Anna Cláudia, Seuanez, Hector N., Lobo de Souza, Kelly Rose, Netto, Cristina B. O., Santos-Silva, Patrícia, da Silva, Gustavo Stumpf, Burbano, Rommel M. R., Santos, Sidney, Assumpção, Paulo Pimentel, Bernardes, Izabel Maria Monteiro, Machado-Lopes, Taisa Manuela Bonfim, Bomfim, Thais Ferreira, Toralles, Maria Betânia Pereira, 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, Lajus, Tirzah Braz Petta, Gifoni, Ana Carolina Leite Vieira Costa, Guindalini, Rodrigo S. C., Cintra, Terezinha Sarquis, Schwartz, Ida V. D., Bernardi, Pricila, Miguel, Diego, Nogueira, Sonia Tereza dos Santos, Herzog, Josef, Weitzel, Jeffrey N., Ashton-Prolla, Patricia
Publicado 2018

Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study

por Maciel, Rui M B, Camacho, Cleber P, Assumpção, Lígia V M, Bufalo, Natassia E, Carvalho, André L, de Carvalho, Gisah A, Castroneves, Luciana A, de Castro, Francisco M, Ceolin, Lucieli, Cerutti, Janete M, Corbo, Rossana, Ferraz, Tânia M B L, Ferreira, Carla V, França, M Inez C, Galvão, Henrique C R, Germano-Neto, Fausto, Graf, Hans, Jorge, Alexander A L, Kunii, Ilda S, Lauria, Márcio W, Leal, Vera L G, Lindsey, Susan C, Lourenço, Delmar M, Maciel, Léa M Z, Magalhães, Patrícia K R, Martins, João R M, Martins-Costa, M Cecília, Mazeto, Gláucia M F S, Impellizzeri, Anelise I, Nogueira, Célia R, Palmero, Edenir I, Pessoa, Cencita H C N, Prada, Bibiana, Siqueira, Débora R, Sousa, Maria Sharmila A, Toledo, Rodrigo A, Valente, Flávia O F, Vaisman, Fernanda, Ward, Laura S, Weber, Shana S, Weiss, Rita V, Yang, Ji H, Dias-da-Silva, Magnus R, Hoff, Ana O, Toledo, Sergio P A, Maia, Ana L
Publicado 2019

XAF1 as a modifier of p53 function and cancer susceptibility

por 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, Fuster-Soler, Jose Luis, Lavarino, Cinzia, Chantada, Guillermo, Vaur, Dominique, Odone-Filho, Vicente, Brugières, 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.
Publicado 2020

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

por Vaccaro, Carlos Alberto, López‐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, Gonzalez, Maria Laura, Herrando, Alberto Ignacio, Alvarez, Karin, Neffa, Florencia, Galvão, Henrique Camposreis, Esperon, Patricia, Golubicki, Mariano, Cisterna, Daniel, Cardoso, Florencia C., Torrezan, Giovana Tardin, Junior, Samuel Aguiar, Pimenta, Célia Aparecida Marques, da Cruz Formiga, Maria Nirvana, Santos, Erika, Sá, Caroline U., Oliveira, Edite P., Fujita, Ricardo, Spirandelli, Enrique, Jimenez, Geiner, Guindalini, Rodrigo Santa Cruz, de Azevedo, Renata Gondim Meira Velame, Bueno, Larissa Souza Mario, dos Santos Nogueira, Sonia Tereza, Loarte, Mariela Torres, Padron, Jorge, del Carmen Castro‐Mujica, Maria, del Monte, Julio Sanchez, Caballero, Carmelo, Peña, Carlos Mario Muñeton, Pinto, Joseph, Barletta‐Carrillo, Claudia, Melva, Gutiérrez Angulo, Piñero, Tamara, Beltran, Paola Montenegro, Ashton‐Prolla, Patricia, Rodriguez, Yenni, Quispe, Richard, Rossi, Norma Teresa, Martin, Claudia, Chialina, Sergio, Kalfayan, Pablo German, Bazo‐Alvarez, Juan Carlos, Cañete, Alcides Recalde, Dominguez‐Barrera, Constantino, Nuñez, Lina, Da Silva, Sabrina Daniela, Balavarca, Yesilda, Wernhoff, Patrik, Plazzer, John‐Paul, Møller, Pål, Hovig, Eivind, Dominguez‐Valentin, Mev
Publicado 2018

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

por 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, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, 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 C.R., Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne‐Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gómez, Carolina, Gómez Garcia, Encarna B., González, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri‐Gonzaga, Aliana, Guillaud‐Bataille, Marine, Gutiérrez‐Enríquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas V.O., Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Hübbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke, Keupp, Katharina, Kiechle, Marion, Kölbl, 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, 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, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Müller, 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, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sánchez de Abajo, Ana María, 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., Teulé, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tornero, Eva, Törngren, 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, Ángela, 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, Wiesmüller, Lisa, Witzel, Isabell, Wöckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder‐Göß, Christine, Investigators, KConFab, Lázaro, Conxi, De Nicolo, Arcangela, Radice, Paolo, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E., Spurdle, Amanda B.
Publicado 2019