A 60-year-old woman with breast cancer and a history of various cancers in her family came to see a genetic counselor to discuss genetic testing to guide her treatment and risk management. The woman also had two café-au-lait macules, a birthmark that can occur in healthy individuals but also in those with a genetic disorder called Neurofibromatosis type 1, caused by a pathogenic variant in the NF1 gene.
During the appointment, the genetic counselor went over the patient’s family cancer history. The patient shared that her sister had a neurofibroma and a history of melanoma but added that “thorough” genetic testing turned up “negative” for Neurofibromatosis type 1. The patient’s maternal grandfather also had a neurofibroma.
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