Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients

The use of gene panels introduces a new dilemma in the genetics field due to the high frequency of variants of uncertain significance (VUS). The objective of this study was to provide evidence that may help in the classification of these germline variants in terms of their clinical impact and associ...

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Detalles Bibliográficos
Autores principales: Grasel, Rebeca Silveira, Felicio, Paula Silva, de Paula, André Escremim, Campacci, Natalia, Garcia, Felipe Antônio de Oliveira, de Andrade, Edilene Santos, Evangelista, Adriane Feijó, Fernandes, Gabriela Carvalho, Sabato, Cristina da Silva, De Marchi, Pedro, Souza, Cristiano de Pádua, de Paula, Cláudia Alessandra Andrade, Torrezan, Giovana Tardin, Galvão, Henrique de Campos Reis, Carraro, Dirce Maria, Palmero, Edenir Inêz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7566163/
https://www.ncbi.nlm.nih.gov/pubmed/33134171
http://dx.doi.org/10.3389/fonc.2020.571330

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