Now showing items 1-12 of 12

    • 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) [Journal article]
      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 ...
    • 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) [Journal article]
      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) [Journal article]
      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 ...
    • Estimação da probabilidade de mutação germinativa através da história familiar 

      Schneider, Silvana; Giacomazzi, Juliana; Prolla, Patrícia Ashton; Camey, Suzi Alves (2011) [Journal article]
      Introdução: Cerca de 10% de todos os tumores são primariamente causados por mutações germinativas de alta penetrância em genes de predisposição ao câncer. Indivíduos portadores dessas mutações têm risco significativamente ...
    • GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submetted to breast cancer screening 

      Aguiar, Ernestina Silva de; Giacomazzi, Juliana; Schmidt, Aishameriane Venes; Bock, Hugo; Pereira, Maria Luiza Saraiva; Faccini, Lavinia Schuler; Duarte Filho, Dakir Lourenço; Santos, Pollyanna Almeida Costa dos; Giugliani, Roberto; Caleffi, Maira; Camey, Suzi Alves; Prolla, Patrícia Ashton (2012) [Journal article]
      Polimorfismos genéticos em genes relacionados com o metabolismo de xenobióticos, como os genes da superfamília das glutationa S-transferases (GSTM1, GSTT1 e GSTP1) têm sido associados com o aumento do risco para câncer de ...
    • Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes : a review for the pediatrician 

      Rossi, Cristina; Giacomazzi, Juliana; Netto, Cristina Brinckmann Oliveira; Santos-Silva, Patrícia; Selistre, Simone Geiger de Almeida; Maia, Ana Luiza Silva; Oliveira, Viviane Ziebell de; Camey, Suzi Alves; Goldim, José Roberto; Prolla, Patrícia Ashton (2015) [Journal article]
      Introduction: cancer is the second leading cause of death in children between the ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed in Brazil. A significant percentage (5-10%) of pediatric ...
    • Performance of the Gail and Tyrer-Cuzick breast cancer risk assessment models in women screened in a primary care setting with the FHS-7 questionnaire 

      Vianna, Fernanda Sales Luiz; Giacomazzi, Juliana; Netto, Cristina Brinckmann Oliveira; Nunes, Luciana Neves; Caleffi, Maira; Prolla, Patrícia Ashton; Camey, Suzi Alves (2019) [Journal article]
      Breast cancer (BC) risk assessment models base their estimations on different aspects of a woman’s personal and familial history. The Gail and Tyrer–Cuzick models are the most commonly used, and BC risks assigned by them ...
    • 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) [Journal article]
      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) [Journal article]
      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 BRCA1 founder mutation c.5266dup in brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome 

      Ewald, Ingrid Petroni; Ribeiro, Patrícia Lisbôa Izetti; Vargas, Fernando Regla; Moreira, Miguel Angelo Martins; Moreira, Aline S.; Moreira Filho, Carlos Alberto; Cunha, Danielle Renzoni; Hamaguchi, Sara; Camey, Suzi Alves; Schmidt, Aishameriane Venes; Caleffi, Maira; Santos, Patricia Koehler dos; Giugliani, Roberto; Prolla, Patrícia Ashton (2011) [Journal article]
      About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas ...
    • 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) [Journal article]
      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, Patricia 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) [Journal article]
      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 ...