Detection of NTRK fusions by RNA-based nCounter is a feasible diagnostic methodology in a real-world scenario for non-small cell lung cancer assessment

Authors: Rodrigo de Oliveira Cavagna, Edilene Santos de Andrade, Monise Tadin Reis, Flávia Escremim de Paula, Gustavo Noriz Berardinelli, Murilo Bonatelli, Gustavo Ramos Teixeira, Beatriz Garbe Zaniolo, Josiane Mourão Dias, Flávio Augusto Ferreira da Silva, Carlos Eduardo Baston Silva, Marina Xavier Reis, Erika Lopes Maia, Thainara Santos de Alencar, Alexandre Arthur Jacinto, Rachid Eduardo Noleto da Nóbrega Oliveira, Miguel A. Molina-Vila, Letícia Ferro Leal, Rui Manuel Reis

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/859d3b2ebdf74c9bad341755af15f1df

New insights on familial colorectal cancer type X syndrome

Authors: Felipe Antonio de Oliveira Garcia, Edilene Santos de Andrade, Henrique de Campos Reis Galvão, Cristina da Silva Sábato, Natália Campacci, Andre Escremin de Paula, Adriane Feijó Evangelista, Iara Viana Vidigal Santana, Matias Eliseo Melendez, Rui Manuel Reis, Edenir Inez Palmero

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/98fb41d67fd1417e81bfd791b569a1b5

Insights on variant analysis in silico tools for pathogenicity prediction

Authors: Felipe Antonio de Oliveira Garcia, Edilene Santos de Andrade, Edenir Inez Palmero

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: in silico, pathogenicity prediction, bioinformatics, variant classification, next generating sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1010327/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/48578514220f41c7a2a98e86dbc7b601

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

Authors: 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

Source: Frontiers in Oncology, Vol 10 (2020)

Subject Terms: genetics, hereditary breast and ovarian cancer predisposition syndrome, hereditary cancer, variant of unknown significance, segregation analysis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fonc.2020.571330/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/9d0b2b6e93ec44d29e8eecba43646e6d