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Background. Uterine fibroids and breast fibroadenomas are a real public health problem. Despite the efforts made, the etiological factors are still unknown. In addition, these tumors share histopathological similarities, including a higher prevalence in black women. To better understand the factors involved, we set out to assess the genetic characteristics of uterine fibroids and breast fibroadenomas in Senegalese women using CYP17α genes. Results. For the CYP17α gene, 196 mutations were found among which, 65 are specific to uterine fibroids, 112 mutations specific to breast fibroadenomas and 19 common to both pathologies. Analysis of the pathogenicity of missense mutations reveals that many mutations are considered to be a simple polymorphism and 21 non-synonymous mutations appear to be potentially damaging, including 6 specific to patients with uterine fibroids; 14 found in patients with breast fibroadenomas. Conclusion. As a genetic marker of risk, the codons 12, 17, 20, 60 and 72 of CYP17α can be a tool to identify high-risk groups of women for prevention and treatment protocols.

Pathogenicity of CYP17α mutations in the occurence of uterine fibroids and breast fibroadenomas