Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability

Pathogenic variants in the BRCA1 and BRCA2 genes are associated with increased risk for breast and ovarian cancers. Concurrent mutations in both genes in the same individual are rare but pose specific challenges when identified, usually through multigene panel testing or infrequently from a genome‐w...

Descripción completa

Detalles Bibliográficos
Autores principales: Algouneh, Arash, Caudle, Michelle, Balci, Tugce, Andrade, Andrea, Penava, Debbie, Saleh, Maha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360338/
https://www.ncbi.nlm.nih.gov/pubmed/35957765
http://dx.doi.org/10.1002/ccr3.6202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360338/
https://www.ncbi.nlm.nih.gov/pubmed/35957765
http://dx.doi.org/10.1002/ccr3.6202

Ejemplares similares