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

We present a 15-year-old female patient with syndromic intellectual disability whose exome reanalysis identified secondary findings of pathogenic BRCA1 and BRCA2 variants, both inherited paternally. We discuss the significant challenges posed by this finding in genetic counseling and cancer risk management of an adolescent with nonverbal intellectual disability, as well as the impact on their family. This rare case highlights the potential increased diagnostic yield of whole exome sequencing reanalysis and the consequences of secondary medically actionable results in a pediatric patient.PMID:35957765 | PMC:PMC9360338 | DOI:10.1002/ccr3.6202

Source: Clinical Genitourinary Cancer - August 12, 2022 Category: Cancer & Oncology Authors: Arash Algouneh Michelle Caudle Tugce Balci Andrea Andrade Debbie Penava Maha Saleh Source Type: research