Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
B Leroy, ML Ballinger, F Baran-Marszak, GL Bond… - Cancer research, 2017 - AACR
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of
individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical …
individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical …
The inherited p53 mutation in the Brazilian population
MI Achatz, GP Zambetti - Cold Spring …, 2016 - perspectivesinmedicine.cshlp.org
A common criticism of studying rare diseases is the often-limited relevance of the findings to
human health. Here, we review∼ 15 years of research into an unusual germline TP53 …
human health. Here, we review∼ 15 years of research into an unusual germline TP53 …
AI-guided identification of risk variants for adrenocortical tumours in TP53 p. R337H carrier children: a genetic association study
BC Figueiredo, F Dupont, G Portelli… - The Lancet Regional …, 2024 - thelancet.com
Background Adrenocortical tumours (ACT) in children are part of the Li-Fraumeni cancer
spectrum and are frequently associated with a germline TP53 pathogenic variant. TP53 p …
spectrum and are frequently associated with a germline TP53 pathogenic variant. TP53 p …
Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors
JAS Feitosa, PF das Chagas, GR de Sousa… - Molecular Biology …, 2020 - Springer
Abstract TP53 p. R337H germline mutation is highly prevalent in the Southern region of
Brazil. We sought to investigate TP53 p. R337H mutation in pediatric tumor samples from a …
Brazil. We sought to investigate TP53 p. R337H mutation in pediatric tumor samples from a …
Perfil de mutações germinativas em pacientes submetidas a aconselhamento genético para câncer hereditário de mama, ovário e endométrio, em Minas Gerais …
CM de Carvalho - 2020 - repositorio.ufmg.br
RESUMO A maioria dos cânceres ginecológicos são esporádicos, mas cerca de 5 a 10%
dos casos tem um padrão hereditário. Destes, grande parte apresentam uma mutação …
dos casos tem um padrão hereditário. Destes, grande parte apresentam uma mutação …
[引用][C] An Image Processing Tool for Automatic germline TP53 R337H Mutation Detection through PCR-RFLP
JJ Dos Santosa, E Falcon, JL Vazqueza, H Legala - epacis.net
This article proposes an algorithm for the analysis of electrophoresis gel images, as an
auxiliary tool for the automatic identification of the bands that contain these images by the …
auxiliary tool for the automatic identification of the bands that contain these images by the …
Aspectos clínicos e laboratoriais do carcinoma de suprarrenal na criança: estudo longitudinal no Hospital das Clínicas da UFMG
NML Monteiro - 2016 - repositorio.ufmg.br
O carcinoma de suprarrenal (CSR) é um tumor raro, com comportamento clínico
heterogêneo e prognóstico geralmente ruim. Representa 0, 2% das neoplasias malignas …
heterogêneo e prognóstico geralmente ruim. Representa 0, 2% das neoplasias malignas …