Dual BRCA1 & BRCA2 Pathogenic Variants in an Adolescent with Syndromic
Intellectual Disability
- Arash Algouneh
, - Michelle Caudle,
- Tugce Balci,
- Andrea Andrade,
- Debbie Penava,
- Maha Saleh
Tugce Balci
London Health Sciences Centre Children's Hospital
Author ProfileAbstract
We present a 15-year-old female with syndromic intellectual disability
whose exome reanalysis identified paternal pathogenic BRCA1 and BRCA2
variants. We highlight the significant challenges posed by this finding
in genetic counseling and cancer risk management of an adolescent with
nonverbal intellectual disability.08 Jun 2022Submitted to Clinical Case Reports 14 Jun 2022Submission Checks Completed
14 Jun 2022Assigned to Editor
25 Jun 2022Reviewer(s) Assigned
01 Jul 2022Review(s) Completed, Editorial Evaluation Pending
02 Jul 2022Editorial Decision: Revise Minor
13 Jul 20221st Revision Received
19 Jul 2022Submission Checks Completed
19 Jul 2022Assigned to Editor
19 Jul 2022Review(s) Completed, Editorial Evaluation Pending
21 Jul 2022Editorial Decision: Accept
