44 results on '"Palmero, Edenir Inêz"'
Search Results
2. Neoadjuvant carboplatin in triple-negative breast cancer: results from NACATRINE, a randomized phase II clinical trial
- Author
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de Pádua Souza, Cristiano, Carneiro, Ana Suellen Barroso, de Oliveira Lessa, Ana Cecília, Lacerda, Domício Carvalho, Paiva, Carlos Eduardo, Zorzetto, Marina Moreira Costa, de Freitas, Ana Julia Aguiar, Santana, Iara Viana Vidigal, de Oliveira, Marco Antonio, Palmero, Edenir Inêz, Marques, Márcia Maria Chiquitelli, and Reinert, Tomás
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- 2023
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3. Functional pri-miR-34b/c rs4938723 and KRAS 3′UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?
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Vieira, Igor Araujo, Pezzi, Eduarda Heidrich, Bandeira, Isabel Cristina, Reis, Larissa Brussa, de Araújo Rocha, Yasminne Marinho, Fernandes, Bruna Vieira, Siebert, Marina, Miyamoto, Kendi Nishino, Siqueira, Monique Banik, Achatz, Maria I., Galvão, Henrique de Campos Reis, Garcia, Felipe Antonio de Oliveira, Campacci, Natalia, Carraro, Dirce Maria, Formiga, Maria Nirvana, Vianna, Fernanda Sales Luiz, Palmero, Edenir Inez, Macedo, Gabriel S., and Ashton-Prolla, Patricia
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- 2024
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4. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
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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, TL, 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, Buecher, Bruno, Buys, Saundra S, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A, Campbell, Ian, Caputo, Sandrine M, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen BM, Collée, J Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F, Eeles, Ros, Ehrencrona, Hans, Ejlertsen, Bent, EMBRACE, Engel, Christoph, Engert, Stefanie, Evans, D Gareth, Faivre, Laurence, Feliubadaló, Lidia, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvão, Henrique CR, Ganz, Patricia A, Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, GEMO Study Collaborators, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Giraud, Sophie, and Glendon, Gord
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EMBRACE ,GEMO Study Collaborators ,HEBON ,Humans ,BRCA1 Protein ,BRCA2 Protein ,Family ,Mutation ,Geography ,Internationality ,Databases ,Genetic ,BRCA1 ,BRCA2 ,breast cancer ,ethnicity ,geography ,mutation ,ovarian cancer ,Databases ,Genetic ,Genetics & Heredity ,Genetics ,Clinical Sciences - Abstract
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
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- 2018
5. The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?
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Campacci, Natalia, primary, Grasel, Rebeca Silveira, additional, Galvão, Henrique de Campos Reis, additional, Garcia, Lucas França, additional, Ribeiro, Paula Carvalho, additional, Pereira, Kercy Fram de Jesus de Sena, additional, Goldim, José Roberto, additional, Ashton-Prolla, Patricia, additional, and Palmero, Edenir Inêz, additional
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- 2024
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6. Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome
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de Paula, André Escremim, Galvão, Henrique de Campos Reis, Bonatelli, Murilo, Sabato, Cristina, Fernandes, Gabriela Carvalho, Berardinelli, Gustavo Noriz, Andrade, Carlos Eduardo Mattos, Neto, Maximiliano Cadamuro, Romagnolo, Luis Gustavo Capochim, Campacci, Natalia, Scapulatempo-Neto, Cristovam, Reis, Rui Manuel, and Palmero, Edenir Inêz
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- 2021
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7. Neoadjuvant carboplatin in triple-negative breast cancer: results from NACATRINE, a randomized phase II clinical trial
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Souza, Cristiano de Pádua, primary, Carneiro, Ana Suellen Barroso, additional, Lessa, Ana Cecília de Oliveira, additional, Lacerda, Domício Carvalho, additional, Paiva, Carlos Eduardo, additional, Zorzetto, Marina Moreira Costa, additional, de Freitas, Ana Julia Aguiar, additional, Santana, Iara Viana Vidigal, additional, de Oliveira, Marco Antonio, additional, Palmero, Edenir Inêz, additional, Marques, Márcia Maria Chiquitelli, additional, and Reinert, Tomás, additional
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- 2023
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8. RAD50 Deficient in a Breast Cancer Model Predicts Sensitivity to PARP Inhibitors
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Palmero, Edenir Inêz, primary, Melendez, Matias Eliseo, primary, Niederauer Ramos, Cíntia Regina, additional, Silva Oliveira, Renato José, additional, Rosa, Marcela Nunes, additional, Pereira, Ariane Stéfani, additional, de Abreu, Renata Barbosa Vahia, additional, Helvoort Lengert, Andre van, additional, Reis, Rui Manuel, additional, and Aline Oliveira Silva, Viviane, additional
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- 2023
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9. miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil
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Pessôa-Pereira, Danielle, Evangelista, Adriane Feijó, Causin, Rhafaela Lima, da Costa Vieira, René Aloisio, Abrahão-Machado, Lucas Faria, Santana, Iara Viana Vidigal, da Silva, Vinicius Duval, de Souza, Karen Cristina Borba, de Oliveira-Silva, Renato José, Fernandes, Gabriela Carvalho, Reis, Rui Manuel, Palmero, Edenir Inêz, and Marques, Márcia Maria Chiquitelli
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- 2020
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10. Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population
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da Costa e Silva Carvalho, Simone, Cury, Nathalia Moreno, Brotto, Danielle Barbosa, de Araujo, Luiza Ferreira, Rosa, Reginaldo Cruz Alves, Texeira, Lorena Alves, Plaça, Jessica Rodrigues, Marques, Adriana Aparecida, Peronni, Kamila Chagas, Ruy, Patricia de Cássia, Molfetta, Greice Andreotti, Moriguti, Julio Cesar, Carraro, Dirce Maria, Palmero, Edenir Inêz, Ashton-Prolla, Patricia, de Faria Ferraz, Victor Evangelista, and Silva Jr, Wilson Araujo
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- 2020
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11. Cost-Effectiveness of BRCA 1/2 Genetic Test and Preventive Strategies: Using Real-World Data From an Upper-Middle Income Country
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Lourenção, Marina, primary, Simões Correa Galendi, Julia, additional, Galvão, Henrique de Campos Reis, additional, Antoniazzi, Augusto Perazzolo, additional, Grasel, Rebeca Silveira, additional, Carvalho, André Lopes, additional, Mauad, Edmundo Carvalho, additional, Oliveira, Jorge Henrique Caldeira de, additional, Reis, Rui Manuel, additional, Mandrik, Olena, additional, and Palmero, Edenir Inêz, additional
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- 2022
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12. The germline mutational landscape of BRCA1 and BRCA2 in Brazil
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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., and Ashton-Prolla, Patricia
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- 2018
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13. Cancer Genetic Counseling in Public Health Care Hospitals : The Experience of Three Brazilian Services
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Palmero, Edenir Inez, Kalakun, Luciane, Schüler-Faccini, Lavinia, Giugliani, Roberto, Vargas, Fernando Regla, Rocha, José Cláudio C., and Ashton-Prolla, Patricia
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- 2007
14. The interference of cold ischemia time in the quality of total RNA from frozen tumor samples
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Viana, Cristiano Ribeiro, Neto, Cristovam Scapulatempo, Kerr, Ligia Maria, Palmero, Edenir Inêz, Marques, Marcia Maria Chiquitelli, Colaiacovo, Tamara, de Queiroz Junior, Abel Feliciano, Carvalho, André Lopes, and Siqueira, Sheila Aparecida Coelho
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- 2013
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15. Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil
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Palmero, Edenir Inêz, Schüler-Faccini, Lavínia, Caleffi, Maira, Achatz, Maria Isabel Waddington, Olivier, Magali, Martel-Planche, Ghyslaine, Marcel, Virginie, Aguiar, Ernestina, Giacomazzi, Juliana, Ewald, Ingrid Petroni, Giugliani, Roberto, Hainaut, Pierre, and Ashton-Prolla, Patricia
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- 2008
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16. Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures
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Sagne, Charlotte, Marcel, Virginie, Bota, Maria, Martel-Planche, Ghyslaine, Nobrega, Amanda, Palmero, Edenir Inêz, Perriaud, Laury, Boniol, Mathieu, Vagner, Stephan, Cox, David G., Chan, Chang S., Mergny, Jean-Louis, Olivier, Magali, Ashton-Prolla, Patricia, Hall, Janet, Hainaut, Pierre, and Achatz, Maria Isabel
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- 2014
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17. Consistency of self-reported first-degree family history of cancer in a population-based study
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Roth, Fernanda Lenara, Camey, Suzi Alves, Caleffi, Maira, Schuler-Faccini, Lavínia, Palmero, Edenir Inêz, Bochi, Carla, Moreira, Susana Mayer, Kalakun, Luciane, Giugliani, Roberto, and Ashton-Prolla, Patrícia
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- 2009
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18. MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers
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Bandeira, Isabel Cristina, Vieira, Igor Araujo, Andreis, Tiago Finger, Brussa Reis, Larissa, Macedo, Gabriel S., Vianna, Fernanda Sales Luiz, Santos-Silva, Patricia, Palmero, Edenir Inez, Galvão, Henrique de Campos Reis, Ramos, Cintia Regina Niederauer, Santiago, Karina Miranda, Achatz, Maria Isabel, da Costa, Alexandre André Balieiro Anastácio, and Ashton-Prolla, Patricia
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- 2020
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19. Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer
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Gomes,Renan, Soares,Barbara Luisa, Felicio,Paula Silva, Michelli,Rodrigo, Netto,Cristina B. O., Alemar,Barbara, Ashton-Prolla,Patrícia, Palmero,Edenir Inêz, and Moreira,Miguel Ângelo Martins
- Subjects
Ashkenazi Jewish ,BRCA1 c.5266dupC ,hereditary breast cancer ,skin and connective tissue diseases ,Founder mutation ,BRCA1 - Abstract
Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresponds to 20% of pathogenic BRCA1 variants reported. Our objective was to investigate the haplotype component of a group of Brazilian families who inherited c.5266dupC in the BRCA1 gene and to verify the ancestry contribution from European, African, and Amerindian origins. Fourteen probands carrying c.5266dupC and 16 relatives (carriers and non-carriers) were investigated. The same haplotype was observed segregating within all the families analyzed, revealing no recombinants in a region of 0.68 Mb. Ancestry analysis demonstrated that the European component was predominant among probands. The BRCA1 c.5266dupC analysis indicates that there was a founder effect in the Brazilian population.
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- 2020
20. The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families
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Achatz, Maria Isabel Waddington, Olivier, Magali, Calvez, Florence Le, Martel-Planche, Ghyslaine, Lopes, Ademar, Rossi, Benedito Mauro, Ashton-Prolla, Patricia, Giugliani, Roberto, Palmero, Edenir Inez, Vargas, Fernando Regla, Rocha, José Claudio Casali Da, Vettore, Andre Luiz, and Hainaut, Pierre
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- 2007
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21. Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients
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Grasel, Rebeca Silveira, primary, Felicio, Paula Silva, additional, de Paula, André Escremim, additional, Campacci, Natalia, additional, Garcia, Felipe Antônio de Oliveira, additional, de Andrade, Edilene Santos, additional, Evangelista, Adriane Feijó, additional, Fernandes, Gabriela Carvalho, additional, Sabato, Cristina da Silva, additional, De Marchi, Pedro, additional, Souza, Cristiano de Pádua, additional, de Paula, Cláudia Alessandra Andrade, additional, Torrezan, Giovana Tardin, additional, Galvão, Henrique de Campos Reis, additional, Carraro, Dirce Maria, additional, and Palmero, Edenir Inêz, additional
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- 2020
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22. The Brazilian TP53 mutation (R337H) and sarcomas
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Volc, Sahlua Miguel, primary, Ramos, Cíntia Regina Niederauer, additional, Galvão, Henrique de Campos Reis, additional, Felicio, Paula Silva, additional, Coelho, Aline Silva, additional, Berardineli, Gustavo Noriz, additional, Campacci, Natalia, additional, Sabato, Cristina da Silva, additional, Abrahao-Machado, Lucas Faria, additional, Santana, Iara Viana Vidigal, additional, Campanella, Nathalia, additional, Lengert, André van Helvoort, additional, Vidal, Daniel Onofre, additional, Reis, Rui Manuel, additional, Dantas, Caio F., additional, Coelho, Robson C., additional, Boldrini, Erica, additional, Serrano, Sergio Vicente, additional, and Palmero, Edenir Inêz, additional
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- 2020
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23. Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer
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Palmero, Edenir Inêz, primary, Campacci, Natalia, additional, Schüler-Faccini, Lavinia, additional, Giugliani, Roberto, additional, Rocha, José Claudio Casali da, additional, Vargas, Fernando Regla, additional, and Ashton-Prolla, Patricia, additional
- Published
- 2020
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24. Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer
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Gomes, Renan, primary, Soares, Barbara Luisa, additional, Felicio, Paula Silva, additional, Michelli, Rodrigo, additional, Netto, Cristina B. O., additional, Alemar, Barbara, additional, Ashton-Prolla, Patrícia, additional, Palmero, Edenir Inêz, additional, and Moreira, Miguel Ângelo Martins, additional
- Published
- 2020
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25. Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast
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Felicio, Paula Silva, Alemar, Barbara, Coelho, Aline Silva, Berardinelli, Gustavo Noriz, Melendez, Matias Eliseo, Lengert, André Van Helvoort, Miche lli, Rodrigo Depieri, Reis, Rui M., Fernandes, Gabriela Carvalho, Ewald, Ingrid Petroni, Bittar, Camila Matzenbacher, Netto, Cristina Brinckmann Oliveira, Artigalas, Osvaldo, Peixoto, Ana, Pinheiro, Manuela, Teixeira, Manuel R., Vargas, Fernando Regla, dos Santos, Anna Cláudia Evangelista, Moreira, Miguel Angelo Martins, Ashton-Prolla, Patricia, and Palmero, Edenir Inêz
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- 2018
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26. A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries
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Della Valle, Adriana, primary, Rossi, Benedito Mauro, additional, Palmero, Edenir Inêz, additional, Antelo, Marina, additional, Vaccaro, Carlos Alberto, additional, López-Kostner, Francisco, additional, Alvarez, Karin, additional, Cruz-Correa, Marcia, additional, Bruno, Luisina Inés, additional, Forones, Nora Manoukian, additional, Mindiola, Jorge Andres Rugeles, additional, Buleje, José, additional, Spirandelli, Florencia, additional, Bohorquez, Mabel, additional, Cock-Rada, Alicia Maria, additional, Sullcahuaman, Yasser, additional, Nascimento, Ivana, additional, Abe-Sandes, Kiyoko, additional, Lino-Silva, Leonardo S., additional, Petracchi, Florencia, additional, Mampel, Alejandra, additional, Rodriguez, Yeni, additional, Rossi, Norma Teresa, additional, Yañez, Claudio Benavides, additional, Rubio, Cladelis, additional, Petta-Lajus, Tirzah Braz, additional, Silveira-Lucas, Elizabeth Lemos, additional, Jiménez, Geiner, additional, Peña, Carlos Mario Muñeton, additional, Reyes-Silva, Carlos, additional, Ayala-Madrigal, María de la Luz, additional, del Monte, Julio Sánchez, additional, Quispe, Richard, additional, Recalde, Alcides, additional, Neffa, Florencia, additional, Sarroca, Carlos, additional, de Campos Reis Galvão, Henrique, additional, Golubicki, Mariano, additional, Piñero, Tamara A., additional, Kalfayan, Pablo G., additional, Ferro, Fabiana Alejandra, additional, Gonzalez, Maria Laura, additional, Pérez-Mayoral, Julyann, additional, Pimenta, Celia Aparecida Marques, additional, Uyaban, Sandra Patricia Bello, additional, Protzel, Ana, additional, Chávez, Guiliana, additional, Dueñas, Milagros, additional, Gil, María Luisa Guevara, additional, Spirandelli, Enrique, additional, Chialina, Sergio, additional, Echeverry, Magdalena, additional, Fuenmayor, Luis José Palacios, additional, Torres, Mariela, additional, Palma, Thais F.Bonfim, additional, Héritas, Nadia Cambados, additional, Martin, Claudia, additional, Suárez, Alfonso, additional, Vallejo, Michael, additional, Rafaela de Souza Timoteo, Ana, additional, Ayala, Carlos Afanador, additional, Jaramillo-Koupermann, Gabriela, additional, Hernández-Sandoval, Jesús Arturo, additional, Guerrero, Angélica Hernandez, additional, Dominguez-Barrera, Constantino, additional, Bazo-Alvarez, Juan Carlos, additional, Wernhoff, Patrik, additional, Plazzer, John-Paul, additional, Balavarca, Yesilda, additional, Hovig, Eivind, additional, Møller, Pål, additional, and Dominguez-Valentin, Mev, additional
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- 2019
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27. Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients
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Fernandes, Gabriela Carvalho, primary, Felicio, Paula Silva, additional, Michelli, Rodrigo Augusto Depieri, additional, Coelho, Aline Silva, additional, Scapulatempo-Neto, Cristovam, additional, and Palmero, Edenir Inêz, additional
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- 2019
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28. Genetic alterations detected by comparative genomic hybridization in BRCAX breast and ovarian cancers of Brazilian population
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Felicio, Paula Silva, primary, Bidinotto, Lucas Tadeu, additional, Melendez, Matias Eliseo, additional, Grasel, Rebeca Silveira, additional, Campacci, Natalia, additional, Galvão, Henrique C.R., additional, Scapulatempo-Neto, Cristovam, additional, Dufloth, Rozany Mucha, additional, Evangelista, Adriane Feijó, additional, and Palmero, Edenir Inêz, additional
- Published
- 2018
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29. Evaluation of MLH1 variants of unclear significance
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Köger, Nicole, primary, Paulsen, Lea, additional, López‐Kostner, Francisco, additional, Della Valle, Adriana, additional, Vaccaro, Carlos Alberto, additional, Palmero, Edenir Inêz, additional, Alvarez, Karin, additional, Sarroca, Carlos, additional, Neffa, Florencia, additional, Kalfayan, Pablo German, additional, Gonzalez, Maria Laura, additional, Rossi, Benedito Mauro, additional, Reis, Rui Manuel, additional, Brieger, Angela, additional, Zeuzem, Stefan, additional, Hinrichsen, Inga, additional, Dominguez‐Valentin, Mev, additional, and Plotz, Guido, additional
- Published
- 2018
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30. A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
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Rossi, Benedito Mauro, primary, Palmero, Edenir Inêz, additional, López-Kostner, Francisco, additional, Sarroca, Carlos, additional, Vaccaro, Carlos Alberto, additional, Spirandelli, Florencia, additional, Ashton-Prolla, Patricia, additional, Rodriguez, Yenni, additional, de Campos Reis Galvão, Henrique, additional, Reis, Rui Manuel, additional, Escremim de Paula, André, additional, Capochin Romagnolo, Luis Gustavo, additional, Alvarez, Karin, additional, Della Valle, Adriana, additional, Neffa, Florencia, additional, Kalfayan, Pablo German, additional, Spirandelli, Enrique, additional, Chialina, Sergio, additional, Gutiérrez Angulo, Melva, additional, Castro-Mujica, Maria del Carmen, additional, Sanchez de Monte, Julio, additional, Quispe, Richard, additional, da Silva, Sabrina Daniela, additional, Rossi, Norma Teresa, additional, Barletta-Carrillo, Claudia, additional, Revollo, Susana, additional, Taborga, Ximena, additional, Morillas, L. Lena, additional, Tubeuf, Hélène, additional, Monteiro-Santos, Erika Maria, additional, Piñero, Tamara Alejandra, additional, Dominguez-Barrera, Constantino, additional, Wernhoff, Patrik, additional, Martins, Alexandra, additional, Hovig, Eivind, additional, Møller, Pål, additional, and Dominguez-Valentin, Mev, additional
- Published
- 2017
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31. Genetic and epigenetic characterization of the BRCA1 gene in Brazilian women at-risk for hereditary breast cancer
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Felicio, Paula Silva, primary, Melendez, Matias Eliseo, additional, Arantes, Lidia Maria Rebolho Batista, additional, Kerr, Ligia Maria, additional, Carraro, Dirce Maria, additional, Grasel, Rebeca Silveira, additional, Campacci, Natalia, additional, Scapulatempo-Neto, Cristovam, additional, Fernandes, Gabriela Carvalho, additional, de Carvalho, Ana Carolina, additional, and Palmero, Edenir Inêz, additional
- Published
- 2016
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32. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil
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Palmero, Edenir Inêz, primary, Alemar, Bárbara, additional, Schüler-Faccini, Lavínia, additional, Hainaut, Pierre, additional, Moreira-Filho, Carlos Alberto, additional, Ewald, Ingrid Petroni, additional, Santos, Patricia Koehler dos, additional, Ribeiro, Patricia Lisbôa Izetti, additional, Oliveira Netto, Cristina Brinkmann de, additional, Calvez-Kelm, Florence Le, additional, Tavtigian, Sean, additional, Cossio, Silvia Liliana, additional, Giugliani, Roberto, additional, Caleffi, Maira, additional, and Ashton-Prolla, Patricia, additional
- Published
- 2016
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33. Evaluation of <italic>MLH1</italic> variants of unclear significance.
- Author
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Köger, Nicole, Paulsen, Lea, López‐Kostner, Francisco, Della Valle, Adriana, Vaccaro, Carlos Alberto, Palmero, Edenir Inêz, Alvarez, Karin, Sarroca, Carlos, Neffa, Florencia, Kalfayan, Pablo German, Gonzalez, Maria Laura, Rossi, Benedito Mauro, Reis, Rui Manuel, Brieger, Angela, Zeuzem, Stefan, Hinrichsen, Inga, Dominguez‐Valentin, Mev, and Plotz, Guido
- Published
- 2018
- Full Text
- View/download PDF
34. Mutational spectrum in a worldwide study of 29,700 families with <italic>BRCA1</italic> or <italic>BRCA2</italic> mutations.
- Author
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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, and van Rensburg, Elizabeth J.
- Abstract
Abstract: The prevalence and spectrum of germline mutations in
BRCA1 andBRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers ofBRCA1 /2 ( CIMBA) has assembled data on 18,435 families withBRCA1 mutations and 11,351 families withBRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 uniqueBRCA1 and 1,731 uniqueBRCA2 deleterious (disease‐associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population‐specific mutational spectrum inBRCA1 andBRCA2 could inform efficient strategies for genetic testing and may justify a more broad‐based oncogenetic testing in some populations. [ABSTRACT FROM AUTHOR]- Published
- 2018
- Full Text
- View/download PDF
35. Germline <italic>MLH1, MSH2</italic> and <italic>MSH6</italic> variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
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Schneider, Nayê Balzan, Pastor, Tatiane, Paula, André Escremim de, Achatz, Maria Isabel, Santos, Ândrea Ribeiro dos, Vianna, Fernanda Sales Luiz, Rosset, Clévia, Pinheiro, Manuela, Ashton‐Prolla, Patricia, Moreira, Miguel Ângelo Martins, Palmero, Edenir Inêz, and Brazilian Lynch Syndrome Study Group
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COLON cancer treatment ,CANCER patients ,HEREDITARY nonpolyposis colorectal cancer ,GERM cells ,CANCER genetics ,DISEASE prevalence ,GENETIC mutation - Abstract
Abstract: Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR):
MLH1 ,MSH2 ,MSH6 and more rarely,PMS2 . Recently, germline deletions inEPCAM have been also associated to the syndrome. Most of the pathogenic MMR mutations found in LS families occur inMLH1 orMSH2 . Gene variants include missense, nonsense, frameshift mutations, large genomic rearrangements and splice‐site variants and most of the studies reporting the molecular characterization of LS families have been conducted outside South America. In this study, we analyzed 60 unrelated probands diagnosed with colorectal cancer and LS criteria. Testing for germline mutations and/or rearrangements in the most commonly affected MMR genes (MLH1, MSH2, EPCAM andMSH6 ) was done by Sanger sequencing and MLPA. Pathogenic or likely pathogenic variants were identified inMLH1 orMSH2 in 21 probands (35.0%). Of these, approximately one‐third were gene rearrangements. In addition, nine variants of uncertain significance (VUS) were identified in 10 (16.6%) of the sixty probands analyzed. Other four novel variants were identified, only inMLH1 . Our results suggest thatMSH6 pathogenic variants are not common among Brazilian LS probands diagnosed with CRC and that MMR gene rearrangements account for a significant proportion of the germline variants in this population underscoring the need to include rearrangement analysis in the molecular testing of Brazilian individuals with suspected Lynch syndrome. [ABSTRACT FROM AUTHOR]- Published
- 2018
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- View/download PDF
36. Mutação germinativa 1100delC no gene CHEK2 : estudo da frequência em famílias brasileiras com câncer de mama e cólon hereditários
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Abud, Jamile, Prolla, João Carlos, Rossi, Cristina, Palmero, Edenir Inêz, Vargas, Fernando Regla, Nunes, Luciana Neves, Achatz, Maria Isabel Alves de Souza Waddington, Moreira, Miguel Angelo Martins, Prolla, Patrícia Ashton, Izetti, Patricia, and Cossio, Silvia Liliana
- Subjects
Estatística médica ,Protein-serine-threonine-kinase, genetics ,Genetic predisposition to disease ,Breast neoplasms, genetics ,Estatística aplicada ,Colonic neoplasms, genetics - Abstract
Introdução - CHEK2 codifica uma proteína quinase envolvida em um ponto de checagem do ciclo celular que desempenha um papel importante na via de reparação do DNA, danos ativados principalmente por ATM (Ataxia Telangiectasia Mutado) em resposta a danos na dupla hélice do DNA. A mutação germinativa 1100delC no gene CHEK2 tem sido descrita como um alelo de baixa penetrância em um número significativo de famílias com câncer de mama e cólon em certos países e também está associada com risco aumentado de câncer de mama contralateral em mulheres previamente afetadas pela doença. Cerca de 5%-10% de todos os cânceres de mama e colorretais estão associados a predisposição hereditária e o seu reconhecimento é de grande importância para o aconselhamento genético e gestão do risco de câncer. Objetivos - Neste estudo foi avaliada a frequência da mutação germinativa 1100delC no gene CHEK2 em 59 diferentes indivíduos brasileiros com critérios clínicos para a síndrome de câncer de mama e cólon hereditários. Método - Utilizamos como estratégia a realização do PCR de longo alcance seguido de sequenciamento. Resultados - A mutação 1100delC foi encontrada em um indivíduo (1,7%), indicando que esta mutação germinativa não é comumente encontrada em famílias brasileiras com múltiplos diagnósticos de câncer de mama e câncer colorretal. Conclusão - Estes resultados devem ser confirmados em uma série maior de famílias, e estudos adicionais devem ser realizados para investigar a patologia molecular do fenótipo HBCC. Context - CHEK2 encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway, activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks. A germline mutation in CHEK2, 1100delC, has been described as a low penetrance allele in a significant number of families with breast and colorectal cancer in certain countries and is also associated with increased risk of contralateral breast cancer in women previously affected by the disease. About 5%-10% of all breast and colorectal cancers are associated with hereditary predisposition and its recognition is of great importance for genetic counseling and cancer risk management. Objectives - Here, we have assessed the frequency of the CHEK2 1100delC mutation in the germline of 59 unrelated Brazilian individuals with clinical criteria for the hereditary breast and colorectal cancer syndrome. Methods - A long-range PCR strategy followed by gene sequencing was used. Results - The 1100delC mutation was encountered in the germline of one (1.7%) individual in this high risk cohort. This indicates that the CHEK2 1100delC is not commonly encountered in Brazilian families with multiple diagnoses of breast and colorectal cancer. Conclusion - These results should be confirmed in a larger series of families and further testing should be undertaken to investigate the molecular mechanisms underlying the hereditary breast and colorectal cancer phenotype.
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- 2012
37. Identification and characterization of patients at-risk for hereditary breast cancer in southern Brazil
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Palmero, Edenir Inêz, Prolla, Patrícia Ashton, and Faccini, Lavinia Schuler
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Fatores de risco ,Neoplasias da mama ,Genética humana ,Porto Alegre (RS) - Abstract
No Brasil, o câncer de mama é considerado um problema significativo de saúde pública, devido a suas altas taxas de incidência e mortalidade. No Rio Grande do Sul, os índices de incidência e mortalidade situam-se entre os maiores do país. Embora exposição a fatores de risco ambientais e/ou predisposição genética possam explicar essa diferença em relação a outras regiões brasileiras, não existem estudos que investiguem esse dado a nível populacional. A presente investigação foi desenvolvida em paralelo com um estudo de rastreamento do câncer de mama, com o objetivo de investigar, em uma amostra de base populacional, a prevalência de fatores de risco genéticos para esse neoplasia. Um total de 9234 mulheres participantes de uma coorte em Porto Alegre foram analisadas. A inclusão na coorte (e no presente estudo) deu-se através do preenchimento de um questionário, o qual incluía, entre outros aspectos, indagações acerca da história familiar de câncer. Das 9234 mulheres entrevistadas, 1286 relataram história pessoal e/ou familiar de pelo uma das seguintes neoplasias: câncer de mama, câncer de ovário e câncer colo-retal. Das 1286 mulheres, 1247 com idade superior a 18 anos foram convidadas a participar de sessões de avaliação do risco genético para câncer (ARGC). Um total de 902 mulheres efetivamente participaram do processo de ARGC. No decorrer da consulta foram realizadas: construção do heredograma, estimativas do risco cumulativo vital (RCV) de desenvolver câncer de mama e da probabilidade de mutação germinativa nos genes BRCA1/2, associados a predisposição hereditária ao câncer de mama e ovário (HBOC). Além disso, os heredogramas foram analisados quanto à presença de critérios clínicos para inclusão em outras síndromes de predisposição hereditária ao câncer de mama, como Síndrome de Li- Fraumeni (SLF), Sindrome de Li-Fraumeni-like (LFL), Síndrome de Predisposição Hereditária ao Câncer de Mama e Câncer Colo-retal (HBCC) e para a Síndrome de Cowden. Dentre as 902 pacientes avaliadas, 688 (76.3%) não preenchiam critérios de inclusão nas síndromes de predisposição hereditária ao câncer consideradas, e foram classificadas, de acordo com seu RCV, como apresentando RCV baixo a moderado (até 20%; 633 mulheres, 92.0%), e moderado a alto (= 20; 55 mulheres, 8.0%) de desenvolver câncer ao longo da vida. Após a análise dos heredogramas, verificou-se que 214 pacientes preenchiam critérios de inclusão para, no mínimo, uma das síndromes de predisposição ao câncer de mama consideradas. Das 214 pacientes oriundas de 183 famílias, 76 mulheres (65 famílias) apresentavam critérios para HBOC; 122 famílias foram classificadas como sendo LFL e 22 como apresentando critérios clínicos para HBCC. Algumas famílias apresentavam critérios de inclusão para mais de uma síndrome. Não havia, na presente amostra nenhuma família com critérios para SLF ou Síndrome de Cowden. Do total de 183 famílias com critérios clínicos, 50 (27.3%) optaram por prosseguir com a investigação e realização do teste genético. Das 50 famílias, 18 apresentavam inicialmente critérios para HBOC e, foram analisadas quanto à presença de alterações germinativas nos genes BRCA1 e BRCA2 por DHPLC e seqüenciamento das variantes. A presença de rearranjos gênicos no gene BRCA1 também foi investigada na amostra. As quarenta famílias com critérios para LFL foram investigadas por DHPLC e seqüenciamento quanto à presença de alterações germinativas no gene TP53. Análise quanto à presença da mutação CHEK2 1100delC foi realizada em 7 famílias (do total de 22 famílias com os critérios para HBCC). Alterações germinativas patogênicas foram detectadas em apenas duas das 50 famílias investigadas. A mutação R273C no exon 8 do gene TP53 foi detectada em uma família LFL e a mutação CHEK2 1100delC foi encontrada em uma família HBCC. Em relação aos genes BRCA1/2 nenhuma alteração deletéria previamente descrita foi detectada. No gene BRCA1, foram verificadas 2 variantes novas, 9 sem significado clínico e 1 variante de significado desconhecido. No gene BRCA2, foram detectadas 9 variantes novas, 8 variantes sem significado clínico e 5 previamente classificadas como tendo significado clínico desconhecido. Análises de segregação das variantes visando confirmar ou descartar sua patogenicidade estão em andamento. Não foram detectados rearranjos gênicos em BRCA1. Dentre as principais limitações da presente investigação podemos destacar a baixa adesão da amostra à realização do teste genético, o que em parte pode ser explicado pelo desenho do estudo, já que mulheres que não estavam buscando ativamente informações sobre seu risco de câncer e sua história familiar foram recrutadas, não junto a clínicas especializadas de genética e câncer, mas junto aos postos de saúde de seus bairros. Outra importante limitação foi o baixo índice de comprovação dos tumores relatados nas famílias com laudos anátomo-patológicos, o que pode em parte explicar o baixo número de mutações detectadas, já que a única fonte de informações sobre os tumores, na maioria dos casos, foi a própria paciente. Investigações adicionais deverão ser oferecidas a todas as famílias aqui analisadas, de forma a aumentar a probabilidade de identificar o fator causal da sua história familiar positiva de câncer. Além disso, estudos envolvendo grupos amostrais maiores deverão ser desenvolvidos na tentativa de verificar se a prevalência de mutações germinativas em genes de predisposição é, em nosso meio, tão reduzida quanto a verificada em nosso trabalho. Caso sim, uma revisão dos critérios de inclusão no teste genético deverá ser feita, na tentativa de identificar a contribuição de outros genes e/ou genes “novos” de alta penetrância envolvidos em uma predisposição hereditária aumentada ao câncer, bem como a contribuição de genes de maior prevalência, porém considerados de baixa penetrância, ou ainda uma análise quanto a contribuição de fatores de risco nãogenéticos, na tentativa de explicar os índices aumentados de incidência e mortalidade por câncer de mama nessa região do país. Ao nosso conhecimento, este é o primeiro estudo a investigar a prevalência do fenótipo de câncer de mama hereditário e de alterações genéticas em genes de predisposição ao câncer de mama hereditário em uma amostra de base populacional. Também é o primeiro relato descritivo de alterações em genes de predisposição ao câncer de mama em mulheres do Rio Grande do Sul. In Brazil, breast cancer is a serious public health problem due to its high incidence and mortality rates. Rio Grande do Sul, Brazil’s southernmost State, has one of the highest breast cancer incidence and mortality rates of the country. Although exposure to environmental risk factors and genetic predisposition may explain this latter observation, to date, no systematic investigation has been conducted in to examine this hypothesis at the population level. The present study was developed in parallel with a larger breast cancer screening project and intended to examine the contribution of genetic risk factors to the epidemiology of breast cancer in Southern Brazil. This question was addressed initially through identification and characterization of patients at-risk for hereditary breast cancer and their families in a population-based sample of women from Porto Alegre. A total of 9234 women above the age of 15 years participating in a large population-based cohort study (the Núcleo Mama Porto Alegre – NMAMA - Cohort) were analyzed. At inclusion in the cohort, all patients responded to a brief questionnaire about family history of breast, ovarian and colorectal cancer. Patients answering positively to at least one of these questions were referred to genetic cancer risk assessment (GCRA) by a clinical cancer geneticist in a secondary health care center, the Núcleo Mama Porto Alegre (NMPOA). Of the 9234 women enrolled in the cohort study, 1286 (13.9%) reported a positive family history. All 1247 women with a positive family history and above age 18 years were invited to participate in this study. Of these 1247, 902 women effectively participated in the GCRA sessions. During these evaluations detailed medical and family histories were obtained and registered in pedigrees and cancer risks estimates were done. The probability of a BRCA1 or BRCA2 mutations causing hereditary breast and ovarian cancer (HBOC) syndrome was estimated using several models. All pedigrees were reviewed by clinical geneticists to assess presence of criteria for the diagnosis of Li-Fraumeni (LFS), Li- Fraumeni like (LFL), Hereditary Breast and Colon Cancer (HBCC) and Cowden Syndromes. Patients fulfilling criteria for a breast cancer predisposition syndrome were offered genetic testing. Of the 902 women submitted to GCRA, 688 (76.3%), did not fulfill criteria for a breast cancer predisposition syndrome. Of these, 633 (92.0%) and 55 (8.0%) women were classified as average to slightly increased (estimated lifetime risk
- Published
- 2007
38. The interference of cold ischemia time in the quality of total RNA from frozen tumor samples
- Author
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Viana, Cristiano Ribeiro, primary, Neto, Cristovam Scapulatempo, additional, Kerr, Ligia Maria, additional, Palmero, Edenir Inêz, additional, Marques, Marcia Maria Chiquitelli, additional, Colaiacovo, Tamara, additional, de Queiroz Junior, Abel Feliciano, additional, Carvalho, André Lopes, additional, and Siqueira, Sheila Aparecida Coelho, additional
- Published
- 2012
- Full Text
- View/download PDF
39. Genomic rearrangements in BRCA1 and BRCA2: a literature review
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Ewald, Ingrid Petroni, primary, Ribeiro, Patricia Lisboa Izetti, additional, Palmero, Edenir Inêz, additional, Cossio, Silvia Liliana, additional, Giugliani, Roberto, additional, and Ashton-Prolla, Patricia, additional
- Published
- 2009
- Full Text
- View/download PDF
40. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
- Author
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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, TL, 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, Buecher, Bruno, Buys, Saundra S, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A, Campbell, Ian, Caputo, Sandrine M, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen BM, Collée, J Margriet, Cook, Jackie, Davidson, Rosemarie, De La Hoya, Miguel, De Leeneer, Kim, De Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F, Eeles, Ros, Ehrencrona, Hans, Ejlertsen, Bent, EMBRACE, Engel, Christoph, Engert, Stefanie, Evans, D Gareth, Faivre, Laurence, Feliubadaló, Lidia, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvão, Henrique CR, Ganz, Patricia A, Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, GEMO Study Collaborators, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Greene, Mark H, Gronwald, Jacek, Gutierrez-Barrera, Angelica, Hahnen, Eric, Hauke, Jan, HEBON, Henderson, Alex, Hentschel, Julia, Hogervorst, Frans BL, Honisch, Ellen, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y, Kast, Karin, Investigators, KConFab, Kim, Sung-Won, Konstantopoulou, Irene, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lázaro, Conxi, Lee, Annette, Lee, Min Hyuk, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lindor, Noralane M, Longy, Michel, Loud, Jennifer T, Lu, Karen H, Lubinski, Jan, Machackova, Eva, Manoukian, Siranoush, Mari, Véronique, Martínez-Bouzas, Cristina, Matrai, Zoltan, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Mensenkamp, Arjen R, Mickys, Ugnius, Miller, Austin, Montagna, Marco, Moysich, Kirsten B, Mulligan, Anna Marie, Musinsky, Jacob, Neuhausen, Susan L, Nevanlinna, Heli, Ngeow, Joanne, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L, Offit, Kenneth, Öfverholm, Anna, Ong, Kai-Ren, Osorio, Ana, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana, Peruga, Nina, Peterlongo, Paolo, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad Usman, Rhiem, Kerstin, Robson, Mark, Rodriguez, Gustavo C, Rogers, Mark T, Rudaitis, Vilius, Schmidt, Ane Y, Schmutzler, Rita Katharina, Senter, Leigha, Shah, Payal D, Sharma, Priyanka, Side, Lucy E, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Slavin, Thomas P, Snape, Katie, Sobol, Hagay, Southey, Melissa, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I, Tan, Yen Y, Teixeira, Manuel R, Terry, Mary Beth, Teulé, Alex, Thomas, Abigail, Thull, Darcy L, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Topka, Sabine, Trainer, Alison H, Tung, Nadine, Van Asperen, Christi J, Van Der Hout, Annemieke H, Van Der Kolk, Lizet E, Van Der Luijt, Rob B, Van Heetvelde, Mattias, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia, Von Wachenfeldt, Anna, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard HF, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K, Hutten Selkirk, Christina G, Hulick, Peter J, Chenevix-Trench, Georgia, Spurdle, Amanda B, Antoniou, Antonis C, and Nathanson, Katherine L
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BRCA2 Protein ,Internationality ,endocrine system diseases ,Geography ,BRCA1 Protein ,BRCA1 ,BRCA2 ,3. Good health ,breast cancer ,ovarian cancer ,Databases, Genetic ,Mutation ,ethnicity ,Humans ,Family ,skin and connective tissue diseases - Abstract
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
41. REGISTRO DE CANCER COLORECTAL HEREDITARIO EN LATINO AMÉRICA: DEL TAMIZAJE GENÉTICO A LOS ESTUDIOS DE COLABORACIÓN INTERNACIONAL.
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Rossi, Benedito Mauro, Dominguez-Barrera, Constantino, and Palmero, Edenir Inêz
- Abstract
El tamizaje genético de genes cancerígenos en países de Latinoamérica se realiza en los últimos 10 a 15 años y ha sido principalmente enfocado al cancer de mama y colorectal. De acuerdo al Grupo de estudio de Tumores Hereditarios (GETH http://www.geth.org.br/novo/) y nuestra reciente investigación en la mayoria de paisdes de América Latina, hay 33 establecimientos de salud de cuidado para cáncer colorectal: cinco en Argentina, uno en Bolivia y veinte en Brasil. Métodos: En América Latina, el tamizaje genético no se encuentra rutinariamente disponible en el Sistema de salud público, con excepción de pocos estudios realizados en instituciones de investigación o centros privados. Las limitaciones en el tamizaje genético tienen un impacto en la evaluación de los pacientes con riesgo de cáncer hereditario y en sus familiares, y finalmente incrementa la carga de cáncer. Resultados: La colaboración internacional podría ser relevante para lograr estudios adicionales sobre Síndrome de Lynch en los países de América Latina, que incrementen el conocimiento sobre las variantes MMR en diferentes poblaciones y generen conciencia adicional sobre esta condición en profesionales médicos y líderes en salud pública. En el caso de Sindrome de Lych, recientemente describimos el espectro de las variantes de reparación patogénica de desajuste en población de América Latina: path_MLH1 hasta un 54%, path_MSH2 hasta un 43%, path_MSH6 hasta un 10%, path_PMS2 hasta un 3% y path_EPCAM hasta un 0,8%. Regiones mutadas frecuentes incluyen exones 11 de MLH1 (15%), exones 3 y 7 de MSH2 (17% y 15%, respectivamente), exón 4 de MSH6 (65%), exones 11 y 13 de PMS2 (31% y 23%, respectivamente). Conclusiones: Registros de cáncer hereditario de Argentina, Chile y Uruguay se han unido recientemente a la base de datos prospectiva de Síndrome de Lynch (PLSD). Este recurso provee conocimiento acerca de la incidencia de genes patógenos específicos MMR y la supervivencia de cáncer que afecta diferentes órganos, el cual brinda información sobre consejería genética y manejo clínico para la población. La PLSP sugiere que la evaluación de riesgo y supervivencia de Síndrome de Lynch debería ser basado en la edad, género y gen MMR involucrado. [ABSTRACT FROM AUTHOR]
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- 2017
42. RAD50 Deficient in a Breast Cancer Model Predicts Sensitivity to PARP Inhibitors.
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Ramos CRN, Oliveira RJS, Rosa MN, Pereira AS, de Abreu RBV, van Helvoort Lengert A, Reis RM, Silva VAO, Palmero EI, and Melendez ME
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- Female, Humans, Poly(ADP-ribose) Polymerase Inhibitors pharmacology, Poly(ADP-ribose) Polymerase Inhibitors therapeutic use, Carboplatin pharmacology, Carboplatin therapeutic use, DNA Repair, Breast Neoplasms drug therapy, Breast Neoplasms genetics, Ovarian Neoplasms drug therapy
- Abstract
Background: Breast and ovarian tumors with pathogenic variants in BRCA1 or BRCA2 genes are more sensitive to poly (ADP-ribose) polymerase inhibitors (PARPi) treatment than wildtype tumors. Pathogenic variants in non- BRCA1/2 homologous recombination repair genes (HRR) also concede sensitivity to PARPi treatment. RAD50 participates in the Mre11- RAD50 -Nbn (MRN) complex of the HRR pathway and plays an important role in DNA repair., Objective: The objective of this study is to evaluate whether RAD50 protein deficiency modulates the PARPi response in breast cancer cell lines., Methods: T47D breast cancer cell line was modified using small interfering RNA and CRISPR/Cas9 technology, to knockout the RAD50 gene. PARPi response (niraparib, olaparib and rucaparib alone or in combination with carboplatin), in T47D and T47D-edited clones, was evaluated by cell viability, cell cycle, apoptosis and protein expression analyses., Results: Treatment with niraparib and carboplatin exerted a synergistic effect on T47D- RAD50 deficient cells and an antagonistic effect on T47D cells parental. Cell cycle analysis demonstrated an increase in the G2/M population in cells treated with niraparib or rucaparib alone or in combination with carboplatin. T47D- RAD50 deficient cells treated with rucaparib and carboplatin exhibited twofold levels in late apoptosis, also showing differences in PARP activation. All T47D RAD50 deficient clones treated with niraparib or rucaparib combined with carboplatin, or rucaparib alone showed increased levels of H2AX phosphorylation., Conclusions: T47D RAD50 deficient cells treated with PARP inhibitors alone or in combination with carboplatin showed cell cycle arrest in the G2/M phase, leading to death by apoptosis. Thus, RAD50 deficiency may be a good biomarker for predicting PARPi response., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
- Published
- 2023
- Full Text
- View/download PDF
43. Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
- Author
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Schneider NB, Pastor T, Paula AE, Achatz MI, Santos ÂRD, Vianna FSL, Rosset C, Pinheiro M, Ashton-Prolla P, Moreira MÂM, and Palmero EI
- Subjects
- Adult, Aged, Aged, 80 and over, Brazil, Female, Gene Frequency genetics, Genetic Predisposition to Disease genetics, Genetic Testing, Germ-Line Mutation genetics, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Young Adult, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, DNA-Binding Proteins genetics, Epithelial Cell Adhesion Molecule genetics, MutL Protein Homolog 1 genetics, MutS Homolog 2 Protein genetics
- Abstract
Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR): MLH1, MSH2, MSH6 and more rarely, PMS2. Recently, germline deletions in EPCAM have been also associated to the syndrome. Most of the pathogenic MMR mutations found in LS families occur in MLH1 or MSH2. Gene variants include missense, nonsense, frameshift mutations, large genomic rearrangements and splice-site variants and most of the studies reporting the molecular characterization of LS families have been conducted outside South America. In this study, we analyzed 60 unrelated probands diagnosed with colorectal cancer and LS criteria. Testing for germline mutations and/or rearrangements in the most commonly affected MMR genes (MLH1, MSH2, EPCAM and MSH6) was done by Sanger sequencing and MLPA. Pathogenic or likely pathogenic variants were identified in MLH1 or MSH2 in 21 probands (35.0%). Of these, approximately one-third were gene rearrangements. In addition, nine variants of uncertain significance (VUS) were identified in 10 (16.6%) of the sixty probands analyzed. Other four novel variants were identified, only in MLH1. Our results suggest that MSH6 pathogenic variants are not common among Brazilian LS probands diagnosed with CRC and that MMR gene rearrangements account for a significant proportion of the germline variants in this population underscoring the need to include rearrangement analysis in the molecular testing of Brazilian individuals with suspected Lynch syndrome., (© 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.)
- Published
- 2018
- Full Text
- View/download PDF
44. Genetic and epigenetic characterization of the BRCA1 gene in Brazilian women at-risk for hereditary breast cancer.
- Author
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Felicio PS, Melendez ME, Arantes LM, Kerr LM, Carraro DM, Grasel RS, Campacci N, Scapulatempo-Neto C, Fernandes GC, de Carvalho AC, and Palmero EI
- Subjects
- Adult, Biomarkers, Tumor, Brazil, Breast Neoplasms pathology, DNA Methylation, Epigenomics, Female, Humans, Middle Aged, Neoplasm Grading, Neoplasm Metastasis, Neoplasm Staging, Promoter Regions, Genetic, Risk, Tumor Burden, Young Adult, BRCA1 Protein genetics, Breast Neoplasms genetics, Epigenesis, Genetic, Genetic Association Studies, Genetic Predisposition to Disease, Mutation
- Abstract
This study aimed to characterize women at-risk for hereditary BC regarding their clinical and molecular characteristics (mutation and methylation in the BRCA1 gene) and correlate the gene expression levels with histopathological, clinical and family history information. BRCA1 real time qPCR was performed to evaluate methylation status and gene expression. The study included 88 women grouped according to the BRCA1 mutational status: 23 BRCA1 mutated, 22 with a Variant of Unknown Significance (VUS) in BRCA1 and 43 BRCA1 WT. Most BRCA1 mutated tumors were triple negative (69.6%) and had histologic grade III (61.0%). Patients with VUS/WT BRCA1 were predominantly of luminal B subtype with histological grades I and II. Regarding the methylation profile, BRCA1 hypermethylation was observed in only two patients (both WT) and none had association with pathogenic BRCA1 mutation. In one patient methylation was present in both, tumor and normal tissues. Hypermethylated tumors had ductal histology, negativity for ER and occurred in < 50 years patients. Gene expression profile showed in all groups lower BRCA1 mRNA levels in tumor tissue compared to the adjacent breast tissue, thereby indicating the loss/decrease of gene function. No association was found between the levels of BRCA1 gene expression and family history of cancer. In summary, our findings suggested that methylation at the BRCA1 gene is not the "second" event in the development of BC in patients with germline mutations in BRCA1 and, although rare, BRCA1 epimutations can constitute an explanation for a fraction of HBOC families.
- Published
- 2017
- Full Text
- View/download PDF
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