Dual BRCA1 & BRCA2 Pathogenic Variants in an Adolescent with Syndromic Intellectual Disability
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Abstract
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.
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- last seen: 2026-05-19T01:45:01.086888+00:00