Abstract
Breast tumors are a frequent cause of medical consultations. Although these tumors are mainly benign, they can become malignant or cancerous. This study aimed to elucidate the involvement of genetic alterations in the C-MYC oncogene in breast tumorigenesis in Senegalese females. After PCR, the epidemiological and molecular profiles of 45 samples, including 19 controls (C) from healthy individuals and 11 benign (BT) and 15 cancerous (MT) samples from patients with tumors, were determined. Mutations were determined using Mutation Surveyor software, and their pathogenicity was assessed using SIFT, Polyphen-2, Mutpred2, SNAP2, PANTER-PSEP, PROVEAN, PhD-SNP, SNP&GO, MUpro, and I-mutant prediction tools. At the epidemiological level, the average ages of the BT and MT groups were 21 and 49.76 years, respectively, and the average ages at menarche were 14.14 and 14.58 years, respectively, with a high frequency of adenofibromas (53.85%) in the BT group and only infiltrating ductal carcinomas (100%) found in the MT group. The stages (III and IV) and grade of SBR were specific to the MT group 76.47% and 58.82%, respectively. At the molecular level, four mutations were identified, all of which were heterozygous and novel, and three of which were non-synonymous. One of the mutations (c.115 T > TC; p.Tyr39His) was recurrent (frequency = 26.67%, 4/15 in the MT group; and 10.53%, 2/19 in the C group) and the other two (c.113 T > TC; p.Phe38Ser and c.117 C > CT) were exclusive to the C group, with the same frequency of 5.26% (1/19). No mutations were found in the BT group. The p.Phe38Ser and p.Tyr39His mutations were described as deleterious and can cause cancer according to the prediction tools. Overall, these mutations can be considered as variants of interest and are the subject of PCR screening for breast cancer prevention.