• Analysis of predictive biomarkers in patients with lung adenocarcinoma from Southern Brazil reveals a distinct profile from other regions of the country 

      Andreis, Tiago Finger; Corrêa, Bruno da Silveira; Vianna, Fernanda Sales Luiz; Paris, Fernanda de; Siebert, Marina; Leistner-Segal, Sandra; Hahn, Eriza Cristina; Ulbrich, Jane Maria; Oliveira, Francine Hehn de; Rivero, Luis Fernando da Rosa; Lorandi, Vinícius; Prolla, Patrícia Ashton; Macedo, Gabriel de Souza (2019) [Artigo de periódico]
      PURPOSE Adenocarcinoma is the most common histologic subtype of non–small-cell lung cancer, representing 40% of all diagnoses. Several biomarkers are currently used to determine patient eligibility for targeted treatments, ...
    • Association of adipokines and adhesion molecules with indicators of obesity in women undergoing mammography screening 

      Souza, Caroline Isoppo de; Rosa, Daniela Dornelles; Ettrich, Betina da Gama; Cibeira, Gabriela Herrmann; Giacomazzi, Juliana; Tusset, Paloma; Prolla, Patrícia Ashton; Medeiros, Lídia Rosi de Freitas; Caleffi, Maira; Camargo Neto, Eurico; Moriguchi, Emílio Hideyuki; Graudenz, Márcia Silveira (2012) [Artigo de periódico]
      Background: The soluble cell adhesion molecules and adipokines are elevated in patients with obesity, hypertension, type 2 diabetes mellitus, breast cancer and atherosclerosis. Objective: To investigate the relationship ...
    • Biobanco do Hospital de Clínicas de Porto Alegre : aspectos técnicos, éticos, jurídicos e sociais 

      Prolla, Patrícia Ashton; Clausell, Nadine Oliveira; Fernandes, Márcia Santana; Matte, Ursula da Silveira; Bittelbrunn, Ana Cristina da Costa; Hemesath, Melissa Prade; Kuchenbecker, Ricardo de Souza; Goldim, José Roberto (2009) [Artigo de periódico]
      As atividades de pesquisa em saúde cada vez mais necessitam do armazenamento de materiais biológicos em biorepositórios e em biobancos. O estabelecimento de políticas institucionais para lidar com aspectos técnicos, éticos, ...
    • Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer 

      Palmero, Edenir Inêz; Campacci, Natalia; Faccini, Lavinia Schuler; Giugliani, Roberto; Rocha, José Cláudio Casali da; Vargas, Fernando Regla; Prolla, Patrícia Ashton (2020) [Artigo de periódico]
      In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry ...
    • Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil 

      Bittar, Camila Matzenbacher; Rocha, Yasminne Marinho de Araújo; Vieira, Igor Araújo; Rosset, Clévia; Andreis, Tiago Finger; Sartor, Ivaine Tais Sauthier; Artigalas, Osvaldo Alfonso Pinto; Netto, Cristina Brinckmann Oliveira; Alemar, Bárbara; Macedo, Gabriel de Souza; Prolla, Patrícia Ashton (2021) [Artigo de periódico]
      Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by pathogenic germline variants in the TP53 gene, characterized by a predisposition to the development of a broad spectrum of tumors ...
    • Conhecimento sobre câncer de mama e câncer de mama hereditário entre enfermeiros em um hospital público 

      Prolla, Carmen Maria Dornelles; Silva, Patricia Santos da; Netto, Cristina Brinckmann Oliveira; Goldim, José Roberto; Prolla, Patrícia Ashton (2015) [Artigo de periódico]
      avaliar os conhecimentos de enfermeiros envolvidos nos cuidados de pacientes oncológicos em um hospital público universitário, em relação ao câncer de mama e ao câncer de mama hereditário e verificar o uso de tais conhecimentos ...
    • Costs of genetic testing : supporting brazilian public policies for the incorporating of molecular diagnostic technologies 

      Schlatter, Rosane Paixão; Matte, Ursula da Silveira; Polanczyk, Carisi Anne; Santos, Patrícia Koehler dos; Prolla, Patrícia Ashton (2015) [Artigo de periódico]
      This study identifies and describes the operating costs associated with the molecular diagnosis of diseases, such as hereditary cancer. To approximate the costs associated with these tests, data informed by Standard Operating ...
    • 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 ...
    • Effect of hfe gene polymorphism on sustained virological response in patients with chronic hepatitis c and elevated serum ferritin 

      Borges, Silvia Coelho; Cheinquer, Hugo; Wolff, Fernando Herz; Cheinquer, Nelson; Krug, Luciano; Prolla, Patrícia Ashton (2012) [Artigo de periódico]
      Context - Abnormal serum ferritin levels are found in approximately 20%-30% of the patients with chronic hepatitis C and are associated with a lower response rate to interferon therapy. Objective - To determine if the ...
    • ESR1 rs9340799 is associated with endometriosis-related infertility and in vitro fertilization failure 

      Paskulin, Diego D'Ávila; Cunha Filho, João Sabino Lahorgue da; Paskulin, Lívia D'Avila; Souza, Carlos Augusto Bastos de; Prolla, Patrícia Ashton (2013) [Artigo de periódico]
      Estrogen receptor alpha has a central role in human fertility by regulating estrogen action in all human reproductive tissues. Leukemia inhibitory factor (LIF) expression, a cytokine critical for blastocyst implantation, ...
    • Estimação da probabilidade de mutação germinativa através da história familiar 

      Schneider, Silvana; Giacomazzi, Juliana; Prolla, Patrícia Ashton; Camey, Suzi Alves (2011) [Artigo de periódico]
      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 ...
    • Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas 

      Vieira, Igor Araújo; Viola, Guilherme Danielski; Pezzi, Eduarda Heidrich; Kowalski, Thayne Woycinck; Fernandes, Bruna Vieira; Andreis, Tiago Finger; Bom, Natascha; Sonnenstrahl, Giulianna; Rocha, Yasminne Marinho de Araújo; Corrêa, Bruno da Silveira; Donatti, Luiza Mezzomo; Sant'Anna, Gabriela dos Santos; Corleta, Helena von Eye; Brum, Ilma Simoni; Rosset, Clévia; Vianna, Fernanda Sales Luiz; Macedo, Gabriel S.; Palmero, Edenir Inêz; Prolla, Patrícia Ashton (2023) [Artigo de periódico]
      The TP53 3’UTR variant rs78378222 A>C has been detected in different tumor types as a somatic alteration that reduces p53 expression through modification of polyadenylation and miRNA regulation. Its prevalence is not yet ...
    • Genetic information and biobanking : a Brazilian perspective on biological and biographical issues 

      Fernandes, Márcia Santana; Prolla, Patrícia Ashton; Moraes, Leonardo Stoll de; Matte, Ursula da Silveira; Goldim, José Roberto; Martins-Costa, Judith Hofmeister (2015) [Artigo de periódico]
      This paper aims to discuss the duties of biological resource centres and their administrators concerning the protection of the privacy of the research subjects. Our aim is to discuss the interfaces between biological and ...
    • Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil 

      Prolla, Patrícia Ashton; Goldim, José Roberto; Vairo, Filippo Pinto e; Matte, Ursula da Silveira; Sequeiros, Jorge (2015) [Artigo de periódico]
      Despite significant advances in the diagnosis and treatment of genetic diseases in the last two decades, there is still a significant proportion where a causative mutation cannot be identified and a definitive genetic ...
    • 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 ...
    • 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 ...
    • Hereditary non-polipomatous colorectal cancer : hereditary predisposition, diagnosis and prevention 

      Coura, Renata dos Santos; Prolla, Patrícia Ashton; Prolla, João Carlos (2005) [Artigo de periódico]
      Background - Colorectal cancer is the third in frequency and the second in mortality in developed countries. In Brazil, it is among the six more common malignant neoplasias. About 20% of colorectal tumors have some hereditary ...
    • Imunoperoxidase no diagnóstico de neoplasias indiferenciadas 

      Cerski, Carlos Thadeu Schmidt; Oliveira, Fernando Rocha de; Bolzzoni, Adelir; Prolla, Patrícia Ashton (1991) [Artigo de periódico]
      Os autores examinaram retrospectivamente 3 7 neoplasias malignas indiferenciadas (NMI) através da técnica de imunoperoxidase, com um painel mínimo de anticorpos; antígeno comum leucocitário (LCA), proteína S100 e citoqueratina ...
    • Increased oxidative damage in carriers of the germline TP53 p.R337H mutation 

      Macedo, Gabriel de Souza; Motta, Leonardo Lisbôa da; Giacomazzi, Juliana; Netto, Cristina Brinckmann Oliveira; Manfredini, Vanusa; Vanzin, Camila Simioni; Vargas, Carmen Regla; Hainaut, Pierre; Klamt, Fabio; Prolla, Patrícia Ashton (2012) [Artigo de periódico]
      Germline mutations in TP53 are the underlying defect of Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome, autosomal dominant disorders characterized by predisposition to multiple early onset cancers. In Brazil, ...
    • Information and diagnosis networks : tools to improve diagnosis and treatment for patients with rare genetic diseases 

      Vieira, Taiane Alves; Trapp, Franciele Barbosa; Souza, Carolina Fischinger Moura de; Faccini, Lavinia Schuler; Jardim, Laura Bannach; Schwartz, Ida Vanessa Doederlein; Riegel, Mariluce; Vargas, Carmen Regla; Burin, Maira Graeff; Leistner-Segal, Sandra; Prolla, Patrícia Ashton; Giugliani, Roberto (2019) [Artigo de periódico]
      Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many ...