Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome

Autor: Renata B. V. Abreu, Ariane S. Pereira, Marcela N. Rosa, Patricia Ashton-Prolla, Viviane A. O. Silva, Matias E. Melendez, Edenir I. Palmero

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

Abstract Germline TP53 pathogenic variants can lead to a cancer susceptibility syndrome known as Li–Fraumeni (LFS). Variants affecting its activity can drive tumorigenesis altering p53 pathways and their identification is crucial for assessing indi

Externí odkaz: https://doaj.org/article/e45da8d2b79c463587803a601981cdf7

Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital

Autor: Edenir I. Palmero, Henrique C.R. Galvão, Gabriela C. Fernandes, André E. de Paula, Junea C. Oliveira, Cristiano P. Souza, Carlos E. Andrade, Luis G.C. Romagnolo, Sahlua Volc, Maximiliano C. Neto, Cristina Sabato, Rebeca Grasel, Edmundo Mauad, Rui M. Reis, Rodrigo A.D. Michelli

Publikováno v: Genetics and Molecular Biology, Vol 39, Iss 2, Pp 168-177 (2016)

Abstract The identification of families at-risk for hereditary cancer is extremely important due to the prevention potential in those families. However, the number of Brazilian genetic services providing oncogenetic care is extremely low for the cont

Externí odkaz: https://doaj.org/article/7c67aa0384cf4c72bb77f586e6b30aff

Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil

Autor: Edenir I. Palmero, Maira Caleffi, Lavínia Schüler-Faccini, Fernanda L. Roth, Luciane Kalakun, Cristina Brinkmann Oliveira Netto, Giovana Skonieski, Juliana Giacomazzi, Bernadete Weber, Roberto Giugliani, Suzi A. Camey, Patricia Ashton-Prolla

Publikováno v: Genetics and Molecular Biology, Vol 32, Iss 3, Pp 447-455 (2009)

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 hereditary br

Externí odkaz: https://doaj.org/article/c0c640b4078949199f7dc6945aa124a9

Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer

Autor: Giovana T. Torrezan, Fernanda G. dos Santos R. de Almeida, Márcia C. P. Figueiredo, Bruna D. de Figueiredo Barros, Cláudia A. A. de Paula, Renan Valieris, Jorge E. S. de Souza, Rodrigo F. Ramalho, Felipe C. C. da Silva, Elisa N. Ferreira, Amanda F. de Nóbrega, Paula S. Felicio, Maria I. Achatz, Sandro J. de Souza, Edenir I. Palmero, Dirce M. Carraro

Publikováno v: Frontiers in Genetics
Frontiers in Genetics, Vol 9 (2018)
Repositório Institucional da UFRN
Universidade Federal do Rio Grande do Norte (UFRN)
instacron:UFRN

Pathogenic variants in known breast cancer (BC) predisposing genes explain only about 30% of Hereditary Breast Cancer (HBC) cases, whereas the underlying genetic factors for most families remain unknown. Here, we used whole-exome sequencing (WES) to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed201fa5325694820ae737c690e93e5
https://pubmed.ncbi.nlm.nih.gov/29868112

Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil

Autor: Juliana Giacomazzi, Marcia S Graudenz, Cynthia A B T Osorio, Patricia Koehler-Santos, Edenir I Palmero, Marcelo Zagonel-Oliveira, Rodrigo A D Michelli, Cristovam Scapulatempo Neto, Gabriela C Fernandes, Maria Isabel W S Achatz, Ghyslaine Martel-Planche, Fernando A Soares, Maira Caleffi, José Roberto Goldim, Pierre Hainaut, Suzi A Camey, Patricia Ashton-Prolla

Publikováno v: PLoS ONE, Vol 9, Iss 6, p e99893 (2014)
PLoS ONE
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

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 in southern Brazil. This muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e540b19cc80755d4d05022eff1dbaafc
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24936644/pdf/?tool=EBI