• BRCA1 and BRCA2 rearrahgements in brazilian individuals with hereditary breast and ovarian cancer syndrome 

      Ewald, Ingrid Petroni; Cossio, Silvia Liliana; Palmero, Edenir Inêz; Pinheiro, Manuela; Nascimento, Ivana Lucia de Oliveira; Machado, Taisa Manuela Bonfim; Sandes, Kiyoko Abé; Toralles, Betânia; Garicochea, Bernardo; Ribeiro, Patrícia Lisbôa Izetti; Pereira, Maria Luiza Saraiva; Bock, Hugo; Vargas, Fernando Regla; Moreira, Miguel Angelo Martins; Peixoto, Ana; Teixeira, Manuel R.; Prolla, Patrícia Ashton (2016) [Artigo de periódico]
      Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, ...
    • Genomic rearrangements in BRCA1 and BRCA2 : a literature review 

      Ewald, Ingrid Petroni; Ribeiro, Patrícia Lisbôa Izetti; Palmero, Edenir Inêz; Cossio, Silvia Liliana; Giugliani, Roberto; Prolla, Patrícia Ashton (2009) [Artigo de periódico]
      Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families ...
    • 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 ...
    • 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 

      Palmero, Edenir Inêz; Temes, Bárbara Alemar Beserra; Faccini, Lavinia Schuler; Hainaut, Pierre; Moreira Filho, Carlos Alberto; Ewald, Ingrid Petroni; Santos, Patrícia Koehler dos; Ribeiro, Patrícia Lisbôa Izetti; Netto, Cristina Brinckmann Oliveira; Kelm, Florence Le Calvez; Tavtigian, Sean V.; Cossio, Silvia Liliana; Giugliani, Roberto; Caleffi, Maira; Prolla, Patrícia Ashton (2016) [Artigo de periódico]
      In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort ...