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

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

Abstract 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...

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Bibliographic Details
Main Authors: Arash Algouneh, Michelle Caudle, Tugce Balci, Andrea Andrade, Debbie Penava, Maha Saleh
Format: Article
Language:English
Published: Wiley 2022-08-01
Series:Clinical Case Reports
Subjects:
early detection of cancer
gynecology medical genetics
incidental findings
intellectual disability
pediatrics
prevention & Control
Online Access:https://doi.org/10.1002/ccr3.6202

Internet

https://doi.org/10.1002/ccr3.6202

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