Article
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.
Gene - 30 Apr 2023
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
Abstract excerpt
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 considered actionable findings. Thus, their periodic re-evaluation using appropriate guidelines is notably important. In...
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