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The main goal of this study was to draw the attention of physicians to commonly undisclosed risk of breast cancer (BrCa) in women suffering from neurofibromatosis type 1 (NF-1), which is 5-fold higher than in the general population. NF-1 related BrCa arises earlier (&lt; 50 years) and is more advanced, with an increased mortality. NF-1 is one of the most frequent monogenic diseases worldwide and a tumor predisposition syndrome. The Nf1 gene is an important negative regulator of the Ras oncogene and belongs to the family of the 12 the most important BrCa predisposition genes. Planning introduction of BrCa screening guidelines for NF-1 women in Poland we started with assessment of BrCa risk awareness and current preventive practices in this population by a survey published in an open access internet profile dedicated exclusively to patients with NF-1 in Poland, with 1928 participants. As a result, we revealed that the awareness of this specific risk was declared by only 30% out of 138 responders, and only 21% of them received this information from medical professionals. In all 4 (2.89%) women suffering from BrCa the cancer was diagnosed before the 50 th year of age. It exceeds significantly the expected prevalence of BrCa in the general population of Polish women. We conclude that the limited awareness of NF-1 related BrCa risk in Polish patients warrants the educational effort directed both to the NF-1 patients by professional counseling and to the medical community, in order to increase the efficacy of preventive measures and decrease BrCa mortality.

Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland