• 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 ...
    • 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) [Artigo de periódico]
      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 ...
    • 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) [Artigo de periódico]
      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) [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 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, Patrícia Koehler dos; Giugliani, Roberto; Prolla, Patrícia Ashton (2011) [Artigo de periódico]
      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) [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 ...