Pathogenicity of CYP17α mutations in the occurence of uterine fibroids and breast fibroadenomas
1 Department of Animal Biology, Faculty of Sciences and Techniques, Cheikh Anta Diop University BP 5005, Dakar, Senegal.
2 Genomics Laboratory, GenGesPop Team, Department of Animal Biology Faculty of Sciences and Techniques, University Cheikh Anta Diop BP 5005, Dakar, Senegal.
Research Article
International Journal of Biological and Pharmaceutical Sciences Archive, 2021, 01(02), 085-099.
Article DOI: 10.30574/ijbpsa.2021.1.2.0030
Publication history:
Received on 10 March 2021; revised on 13 April 2021; accepted on 16 April 2021
Abstract:
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.
Keywords:
Fibroids; Uterus; Fibroadenoma; Breast; Genetics; Biomarker; Senegal.
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