Story perspectives

Genetic Counseling Reveals NF1 in Family's BRCA2 Variant

10/25/2025

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Summary

Story summary

A 45-year-old man with undiagnosed neurofibromatosis type 1 underwent genetic counseling after a bone marrow biopsy revealed a somatic BRCA2 variant.
The genetic counselor found numerous neurofibromas and a family history of NF1 symptoms.
The case highlights the importance of integrating genetic counselors into pathology programs to identify gaps in patient care.
Cascade testing showed family members with NF1 symptoms carried the same variant, supporting its pathogenic classification.

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Story summary

A 45-year-old man with undiagnosed neurofibromatosis type 1 underwent genetic counseling after a bone marrow biopsy revealed a somatic BRCA2 variant.
The genetic counselor found numerous neurofibromas and a family history of NF1 symptoms.
The case highlights the importance of integrating genetic counselors into pathology programs to identify gaps in patient care.
Cascade testing showed family members with NF1 symptoms carried the same variant, supporting its pathogenic classification.