What is it about?
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by loss-of function mutations in the NF1 tumor suppressor gene encoding neurofibromin, a negative regulator of the RAS/MAPK signaling pathway.
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Why is it important?
Women with NF1 carry a significantly elevated risk of breast cancer, particularly before the age of 50. We report the case of a 59-year-old woman with known NF1 who developed an invasive ductal carcinoma (IDC) of the left breast, not otherwise specified (NOS), classified cT4d N1c M1, of Luminal B molecular subtype (ER 60%, PR 10%, Ki67 20%, HER2 1+).
Perspectives
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant genetic condition with an estimated incidence of 1 in 3,000 live births. It is caused by inactivating mutations in the NF1 tumor suppressor gene, located on chromosome 17q11.2,
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This page is a summary of: Neurofibromatosis Type 1 Associated with Breast Cancer: A Case Report, Journal of Case Reports and Medical History, July 2026, Acquire Publications LLC,
DOI: 10.54289/jcrmh2600111.
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