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

Abstract

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 (< 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.

Mammographic breast density and IGF-1 gene polymorphisms rs1520220, rs2946834 and rs6219 in Polish women

“…Literature data indicate that the most common genes for predisposition to breast carcinoma are: ATM, BARD1, BRCA1/2, CDH1, CHEK2, Nf1, PALB2, PTEN, RAD51C, RAD51D and TP53 [6]. A recent study confirmed the risk of breast cancer in women with neurofibroma type 1 (NF-1) [7]. As for the Nf1 gene, the so-called first hit mutation guaranteed that further carcinogenesis is inherited germinally in patients with NF-1 [8,9].…”

Coordinated medical care program for neurofibromatosis type 1 children and adolescents in Poland influences the future of their affected parents: a single academic reference center experience and national program description.

“…All the features of NF-1 listed above signi cantly complicate not only genetic counselling but the clinical diagnosis in early childhood as well. Contrary to toddlers, a correct clinical diagnosis of NF-1 based on phenotypic manifestations may be established in > 90% of children at the age of 6 years [10,11,12] (Table 1) and in adulthood. Although the diagnostic criteria allowing the accurate clinical diagnosis of NF-1 have been revised recently [13], the phenotypic presentation of the disease in adults is striking.…”