Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Ana Carolina Rathsam Leite"'
Autor:
Janinne Barboza Rangel, Wallace William da Silva Meireles, Ana Carolina Rathsam Leite, Cristina Touguinha Neves Medina, Maria Teresinha de Oliveira Cardoso, Romina Soledad Heredia Garcia Silva
Publikováno v:
Residência Pediátrica, Vol 14, Iss 1 (2024)
Familial chylomicronemia syndrome (FCS) is a rare, autosomal recessive monogenic disease, affecting 1:1,000,000000. A hallmark of the disease is the severe hypertriglyceridemia caused by either lipoprotein lipase (LPL) enzyme deficiency or one of its
Externí odkaz:
https://doaj.org/article/6478d961b7774952a163a6f40baa426b
Autor:
Renata Lazari Sandoval, Cibele Masotti, Mariana Petaccia de Macedo, Maurício Fernando Silva Almeida Ribeiro, Ana Carolina Rathsam Leite, Sibele Inacio Meireles, Rodrigo Medeiros Bovolin, Fernando Costa Santini, Rodrigo Ramella Munhoz, Denis Leonardo Fontes Jardim, Artur Katz, Anamaria Aranha Camargo, Gustavo dos Santos Fernandes, Maria Isabel Achatz
Publikováno v:
JCO Global Oncology, Vol , Iss 7, Pp 1141-1150 (2021)
PURPOSELi-Fraumeni syndrome (LFS) is rare in the worldwide population, but it is highly prevalent in the Brazilian population because of a founder mutation, TP53 p.R337H, accounting for 0.3% of south and southeastern population. Clinical criteria for
Externí odkaz:
https://doaj.org/article/6a8c6059217b4076af1e7479ce18af74
Autor:
Ana Carolina Rathsam Leite, Daniele Assad Suzuki, Allan Anderson Lima Pereira, Natalia Polidorio Machado, Romualdo Barroso-Sousa, Tatiana Strava Correa, Fernanda Cesar Moura, Igor Alexandre Protzner Morbeck, Brenda Pires Gumz, Luiza Dib Batista Bugiato Faria, Gustavo dos Santos Fernandes, Renata Lazari Sandoval
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
BackgroundIdentifying individuals at a higher risk of developing cancer is a major concern for healthcare providers. Cancer predisposition syndromes are the underlying cause of cancer aggregation and young-onset tumors in many families. Germline gene
Externí odkaz:
https://doaj.org/article/c5d6f477aa174347acc50a372bfb16d2
Autor:
Renata Lazari Sandoval, Natalia Polidorio, Ana Carolina Rathsam Leite, Mariana Cartaxo, Janina Pontes Pisani, Carla Vanessa Quirino, Loureno Cezana, Natálya Gonçalves Pereira, Allan Andresson Lima Pereira, Benedito Mauro Rossi, Maria Isabel Achatz
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Breast cancer (BC) is the most prevalent malignancy in women with Li-Fraumeni syndrome (LFS). The literature on BC in LFS is limited due to its rarity worldwide. A TP53 founder pathogenic variant (c.1010G>A; p.R337H) is responsible for the higher pre
Externí odkaz:
https://doaj.org/article/e4027b7cb5df4ac3a42df4ae9ba8d4d5
Autor:
Renata Lazari Sandoval, Ana Carolina Rathsam Leite, Daniel Meirelles Barbalho, Daniele Xavier Assad, Romualdo Barroso, Natalia Polidorio, Carlos Henrique Dos Anjos, Andréa Discaciati de Miranda, Ana Carolina Salles de Mendonça Ferreira, Gustavo Dos Santos Fernandes, Maria Isabel Achatz
Publikováno v:
PLoS ONE, Vol 16, Iss 2, p e0247363 (2021)
Brazil is the largest country in South America and the most genetically heterogeneous. The aim of the present study was to determine the prevalence of germline pathogenic variants (PVs) in Brazilian patients with breast cancer (BC) who underwent gene
Externí odkaz:
https://doaj.org/article/8adb010a05334b4faa15e8f38084f104
Autor:
Tatiana Strava Correa, Eduarda Sabá Cordeiro de Oliveira, Ana Carolina Rathsam Leite, Luiza Nardin Weis, Fernanda Cesar Moura, Jéssica da Costa Leite, Renata Lazari Sandoval, Romualdo Barroso de Sousa
Publikováno v:
Mastology.
Objective: The lack of financial resources challenges the inclusion of genetic testing in the Brazilian Public Health System. This study aims to describe the detection rate of germline pathogenic variants (GPVs) in patients at risk of hereditary brea
Autor:
Renata Lazari, Sandoval, Natalia, Polidorio, Ana Carolina Rathsam, Leite, Mariana, Cartaxo, Janina Pontes, Pisani, Carla Vanessa, Quirino, Loureno, Cezana, Natálya Gonçalves, Pereira, Allan Andresson Lima, Pereira, Benedito Mauro, Rossi, Maria Isabel, Achatz
Publikováno v:
Frontiers in oncology. 12
Breast cancer (BC) is the most prevalent malignancy in women with Li-Fraumeni syndrome (LFS). The literature on BC in LFS is limited due to its rarity worldwide. AThe aim of the study was to describe the BC phenotype expressed by Brazilian female LFS
Autor:
Anamaria A. Camargo, Mariana Petaccia de Macedo, Rodrigo Ramella Munhoz, Maurício Fernando Silva Almeida Ribeiro, Ana Carolina Rathsam Leite, Renata Lazari Sandoval, Sibele I. Meireles, Fernando C. Santini, Maria Isabel Achatz, Denis Leonardo Fontes Jardim, Cibele Masotti, Gustavo dos Santos Fernandes, Rodrigo Medeiros Bovolin, Artur Katz
Publikováno v:
JCO Global Oncology
PURPOSE Li-Fraumeni syndrome (LFS) is rare in the worldwide population, but it is highly prevalent in the Brazilian population because of a founder mutation, TP53 p.R337H, accounting for 0.3% of south and southeastern population. Clinical criteria fo
Autor:
Tatiana Strava Corrêa, Renata Lazari Sandoval, Luiza Nardin Weis, Ana Carolina Rathsam Leite, Romualdo Barroso de Sousa
Publikováno v:
Mastology.
Objectives: In Brazil, patients treated in the public health (PH) system have no access to genetic testing. This study aims to explore the clinical profile of patients at risk of hereditary breast cancer (BC) in a tertiary hospital at the Federal Dis
Autor:
Daniele Xavier Assad, Andréa Discaciati de Miranda, Romualdo Barroso, Maria Isabel Achatz, Gustavo Dos Santos Fernandes, Natalia Polidorio, Renata Lazari Sandoval, Carlos Henrique dos Anjos, Ana Carolina Rathsam Leite, Ana Carolina Salles de Mendonça Ferreira, Daniel Meirelles Barbalho
Publikováno v:
PLoS ONE
PLoS ONE, Vol 16, Iss 2, p e0247363 (2021)
PLoS ONE, Vol 16, Iss 2, p e0247363 (2021)
Brazil is the largest country in South America and the most genetically heterogeneous. The aim of the present study was to determine the prevalence of germline pathogenic variants (PVs) in Brazilian patients with breast cancer (BC) who underwent gene