Value of the loss of heterozygosity to BRCA1 variant classification

At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic variants (PV) and benign variants (BV) remains particularly challenging. As a typical tumor suppressor gene, the inactivation of the second wild-type (WT) BRCA1 allele is expe...

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Detalles Bibliográficos
Autores principales: Santana dos Santos, Elizabeth, Spurdle, Amanda B., Carraro, Dirce M., Briaux, Adrien, Southey, Melissa, Torrezan, Giovana, Petitalot, Ambre, Leman, Raphael, Lafitte, Philippe, Meseure, Didier, Driouch, Keltouma, Side, Lucy, Brewer, Carole, Beck, Sarah, Melville, Athalie, Callaway, Alison, Revillion, Françoise, Folgueira, Maria A. A. Koike, Parsons, Michael T., Thorne, Heather, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Bieche, Ivan, Caputo, Sandrine M., Rouleau, Etienne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8764043/
https://www.ncbi.nlm.nih.gov/pubmed/35039532
http://dx.doi.org/10.1038/s41523-021-00361-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8764043/
https://www.ncbi.nlm.nih.gov/pubmed/35039532
http://dx.doi.org/10.1038/s41523-021-00361-2

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