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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Principais autores: Rebeca Silveira Grasel, Paula Silva Felicio, André Escremim de Paula, Natalia Campacci, Felipe Antônio de Oliveira Garcia, Edilene Santos de Andrade, Adriane Feijó Evangelista, Gabriela Carvalho Fernandes, Cristina da Silva Sabato, Pedro De Marchi, Cristiano de Pádua Souza, Cláudia Alessandra Andrade de Paula, Giovana Tardin Torrezan, Henrique de Campos Reis Galvão, Dirce Maria Carraro, Edenir Inêz Palmero
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020-10-01
coleção:Frontiers in Oncology
Assuntos:
genetics
hereditary breast and ovarian cancer predisposition syndrome
hereditary cancer
variant of unknown significance
segregation analysis
Acesso em linha:https://www.frontiersin.org/article/10.3389/fonc.2020.571330/full
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