• CHEK2 1100delC germline mutation : a frequency study in hereditary breast and colon cancer Brazilian families 

      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; Cossio, Silvia Liliana (2012) [Artigo de periódico]
      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 ...
    • Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care 

      Prolla, Patrícia Ashton; Giacomazzi, Juliana; Schmidt, Aishameriane Venes; Roth, Fernanda Lenara; Palmero, Edenir Inêz; Kalakun, Luciane; Aguiar, Ernestina Silva de; Moreira, Susana Mayer; Batassini, Érica; Belo-Reyes, Vanessa; Faccini, Lavinia Schuler; Giugliani, Roberto; Caleffi, Maira; Camey, Suzi Alves (2009) [Artigo de periódico]
      Background: Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed ...
    • Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil 

      Palmero, Edenir Inêz; Caleffi, Maira; Faccini, Lavinia Schuler; Roth, Fernanda Lenara; Kalakun, Luciane; Netto, Cristina Brinckmann Oliveira; Skonieski, Giovana; Giacomazzi, Juliana; Weber, Bernadete; Giugliani, Roberto; Camey, Suzi Alves; Prolla, Patrícia Ashton (2009) [Artigo de periódico]
      In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the ...
    • Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women 

      Giacomazzi, Juliana; Aguiar, E.; Palmero, Edenir Inêz; Schmidt, Adriana Vidal; Skonieski, Giovana; Filho, D.; Bock, Hugo; Pereira, Maria Luiza Saraiva; Ewald, Ingrid Petroni; Faccini, Lavinia Schuler; Camey, Suzi Alves; Caleffi, Maira; Giugliani, Roberto; Prolla, Patrícia Ashton (2012) [Artigo de periódico]
      Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies ...
    • Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density 

      Giacomazzi, Juliana; Aguiar, Ernestina Silva de; Palmero, Edenir Inêz; Schmidt, Aishameriane Venes; Skonieski, Giovana; Duarte Filho, Dakir Lourenço; Bock, Hugo; Pereira, Maria Luiza Saraiva; Faccini, Lavinia Schuler; Camey, Suzi Alves; Caleffi, Maira; Giugliani, Roberto; Prolla, Patrícia Ashton (2011) [Artigo de periódico]
      Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. ...
    • Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil 

      Giacomazzi, Juliana; Graudenz, Márcia Silveira; Osório, Cynthia Aparecida Bueno de Toledo; Santos, Patrícia Koehler dos; Palmero, Edenir Inêz; Oliveira, Marcelo Zagonel de; Michelli, Rodrigo Augusto Depieri; Scapulatempo Neto, Cristovam; Fernandes, Gabriela de Carvalho; Achatz, Maria Isabel Alves de Souza Waddington; Martel-Planche, Ghyslaine; Soares, Fernando A.; Caleffi, Maira; Goldim, José Roberto; Hainaut, Pierre; Camey, Suzi Alves; Prolla, Patrícia Ashton (2014) [Artigo de periódico]
      Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population ...