Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance

In the context of cancer predisposition syndromes, it is widely known that the correct interpretation of germline variants identified in multigene panel testing is essential for adequate genetic counseling and clinical decision making, in which variants of uncertain significance (VUS) are not consid...

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Veröffentlicht in:	Gene 2023-04, Vol.862, p.147281-147281, Article 147281
Hauptverfasser:	Andreis, Tiago Finger, de Souza, Kayana Isabel Weber, Vieira, Igor Araujo, Alemar, Bárbara, Sinigaglia, Marialva, de Araújo Rocha, Yasminne Marinho, Artigalás, Osvaldo, Bittar, Camila, Oliveira Netto, Cristina Brinckmann, Ashton-Prolla, Patricia, Rosset, Clévia
Format:	Artikel
Sprache:	eng
Schlagworte:	Brazilian population BRCA1 BRCA2 Genetic testing results Variant classification guidelines Variant of uncertain significance Variant reassessment
Online-Zugang:	Volltext
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