• BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil : are international testing criteria appropriate for this specific population? 

      Temes, Bárbara Alemar Beserra; Silva, Cleandra Gregório; Herzog, Josef; Bittar, Camila Matzenbacher; Netto, Cristina Brinckmann Oliveira; Artigalas, Osvaldo Alfonso Pinto; Schwartz, Ida Vanessa Doederlein; Coffa, Jordy; Camey, Suzi Alves; Weitzel, Jeffrey; Prolla, Patrícia Ashton (2017) [Artigo de periódico]
      Background Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). Methods In this study we evaluated the mutational profile and prevalence of BRCA ...
    • BRCA1 and BRCA2 mutational profile, prevalence and testing criteria in hereditary breast and ovarian cancer (HBOC) probands from southern Brazil 

      Alemar, Bárbara; Gregório, Cleandra; Herzog, Josef; Bittar, Camila Matzenbacher; Netto, Cristina Brinckmann Oliveira; Artigalas, Osvaldo Alfonso Pinto; Schwartz, Ida Vanessa Doederlein; Camey, Suzi Alves; Weitzel, Jeffrey; Prolla, Patrícia Ashton (2017) [Resumo publicado em evento]
    • Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America 

      Herzog, Josef; Prolla, Patrícia Ashton; Weitzel, Jeffrey (2021) [Artigo de periódico]
      The prevalence and contribution of BRCA1/2 (BRCA) pathogenic variants (PVs) to the cancer burden in Latin America are not well understood. This study aims to address this disparity. BRCA analyses were performed on prospectively ...
    • Prevalência de mutações hispânicas em BRCA1 e BRCA2 entre pacientes com a Síndrome de câncer de mama e ovário hereditários do Sul do Brasil 

      Temes, Bárbara Alemar Beserra; Herzog, Josef; Weitzel, Jeffrey; Prolla, Patrícia Ashton (2015) [Resumo publicado em evento]
    • The germline mutational landscape of BRCA1 and BRCA2 in Brazil 

      Palmero, Edenir Inêz; Carraro, Dirce Maria; Alemar, Bárbara; Moreira, Miguel Angelo Martins; Santos, Andrea Ribeiro dos; Sandes, Kiyoko Abé; Galvão, Henrique de Campos Reis; Reis, Rui Manoel; Souza, Cristiano de Pádua; Compacci, Natalia; Achatz, Maria Isabel Alves de Souza Waddington; Brianese, Rafael Canfield; Formiga, Maria Nirvana da Cruz; Makdissi, Fabiana Baroni; Vargas, Fernando Regla; Santos, Anna Cláudia Evangelista dos; Seuánez, Héctor N.; Souza, Kelly Rose Lobo de; Netto, Cristina Brinckmann Oliveira; Silva, Patricia Santos da; Silva, Gustavo Stumpf da; Burbano, Rommel Mario Rodríguez; Santos, Sidney; Assumpção, Paulo Pimentel; Bernardes, Izabel Maria Monteiro; Lopes, Taisa Manuela Bonfim Machado; Bomfim, Thais Ferreira; Toralles, Maria Betânia Pereira; Nascimento, Ivana Lucia de Oliveira; Garicochea, Bernardo; Simon, Sergio D.; Noronha, Simone; Lima, Fernanda Teresa de; Chami, Anisse Marques; Bittar, Camila Matzenbacher; Bines, José; Artigalas, Osvaldo Alfonso Pinto; Diz, Maria Del Pilar Estevez; Lajus, Tirzah Braz Petta; Gifoni, Ana Carolina Leite Vieira Costa; Guindalini, Rodrigo Santa Cruz; Cintra, Terezinha Sarquis; Schwartz, Ida Vanessa Doederlein; Bernardi, Pricila; Miguel, Diego Santana Chaves Geraldo; Nogueira, Sonia Tereza dos Santos; Herzog, Josef; Weitzel, Jeffrey; Prolla, Patrícia Ashton (2018) [Artigo de periódico]
      The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation of clinical management strategies, and in Brazil, there is limited access to these services, mainly due to the costs/ availability of ...