Session # A-109

The results are in: who is testing positive for NF1 on hereditary cancer multi-gene panels?

  • Cohort study of cases with pathogenic and likely pathogenic NF1 alterations identified on hereditary cancer multi-gene panels (MGPs).
  • Hereditary cancer MGPs are utilized for a subset of patients with a known clinical NF1 diagnosis without previous genetic testing (almost 50% of positive patients had previous clinical diagnosis).
  • Of patients without a previous clinical NF1 diagnosis, a small number ( 9.1%) reported at least one clinical feature of NF1 or specified no features of NF1 after physical evaluation (5.2%), and most did not comment on clinical history of NF1 features.
  • Patients without a clinical diagnosis of NF1 may also test positive for NF1 pathogenic alterations on hereditary cancer MGP testing and would benefit from further screening and genetic counseling.

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