Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study

The complexity of genetic variant interpretation means that a proportion of individuals who undergo genetic testing for a hereditary cancer syndrome will have their test result reclassified over time. Such a reclassification may involve a clinically significant upgrade or downgrade in pathogenicity,...

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Detalles Bibliográficos
Autores principales: Wedd, Laura, Gleeson, Margaret, Meiser, Bettina, O’Shea, Rosie, Barlow-Stewart, Kristine, Spurdle, Amanda B., James, Paul, Fleming, Jane, Nichols, Cassandra, Austin, Rachel, Cops, Elisa, Monnik, Melissa, Do, Judy, Kaur, Rajneesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272031/
https://www.ncbi.nlm.nih.gov/pubmed/37012465
http://dx.doi.org/10.1007/s12687-023-00644-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272031/
https://www.ncbi.nlm.nih.gov/pubmed/37012465
http://dx.doi.org/10.1007/s12687-023-00644-0

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