Navegação Ciências Biológicas por Autor "Macedo, Gabriel de Souza"
Resultados 1-5 de 5
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Analysis of predictive biomarkers in patients with lung adenocarcinoma from Southern Brazil reveals a distinct profile from other regions of the country
(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, ... -
Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil
(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 ... -
Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53
(2016) [Artigo de periódico]Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline ... -
Increased oxidative damage in carriers of the germline TP53 p.R337H mutation
(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, ... -
TP53 p.R337H is a conditional cancer-predisposing mutation : further evidence from a homozygous patient
(2013) [Artigo de periódico]Background: Adrenocortical carcinomas (ACCs) are among the most common childhood cancers occurring in infants affected with the Li-Fraumeni and Li- Fraumeni-like (LFS/LFL) syndromes, which are caused by dominant germline ...
