@article{10.11648/j.ijgg.20231102.11,
  author = {Sidi Mohamed and Fatimata Mbaye and Jemila Bouka and Ahmed Zein and Anna Ndong and Mbacké Sembene},
  title = {Breast Cancer in Mauritania: Mutations in Exon 4 of the TP53 Gene},
  journal = {International Journal of Genetics and Genomics},
  volume = {11},
  number = {2},
  pages = {38-47},
  doi = {10.11648/j.ijgg.20231102.11},
  url = {https://doi.org/10.11648/j.ijgg.20231102.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20231102.11},
  abstract = {Cancer is one of the leading causes of death worldwide, with approximately 10 million cancer-related deaths reported in 2020. Approximately 70% of these deaths occurred in developing countries. In 2020, 2.3 million women were diagnosed with breast cancer and 685,000 deaths due to breast cancer were reported worldwide. Cancer is characterized by the presence of most triggers in the genome. Mutations in genes, either passed from one generation to the next or acquired throughout life, can cause breast cancer. Tumor suppressor genes encode proteins that negatively regulate cell proliferation and repress certain oncogenes. One of these genes, the TP53 gene, has multiple biological functions. Understanding the mechanism of action of p53 in breast carcinogenesis has been an important challenge in cancer research. This study aimed to investigate the involvement of alterations in exon 4 of the TP53 gene in Mauritanian patients with breast cancer. The study was conducted using 45 tumor tissue sequences and 35 control sequences. The nature and position of the mutations were determined using Mutation Surveyor V5.1.2 The pathogenicity of the mutations was determined using Polyphen2, SIFT, and Mutation Tester, and their three-dimensional structure was determined using the I-Tasser server. DnaSP version 5.10, MEGA version 7.014, and Arlequin version 3.1 were used to highlight the variability of exon 4 of the TP53 gene. Our results revealed the presence of a single-nucleotide variant at position (c.139 C>T), which causes an amino acid change from proline to serine at codon 47 in the coding region of exon 4 of the TP53 gene. Of note, this variant has already been listed in the database (rs1800371). In addition, five novel mutations were found in the cancer tissue sequences alone, with statistically significant scores. Analyses of genetic variability indicated a relatively high polymorphism in tumor tissue sequences compared with control sequences. This variability may contribute to the involvement of exon 4 mutations in the occurrence of breast cancer in our population, and serves as the first data on TP53 exon 4 alterations in Mauritania.},
 year = {2023}
}

Copy | Download

TY  - JOUR
T1  - Breast Cancer in Mauritania: Mutations in Exon 4 of the TP53 Gene
AU  - Sidi Mohamed
AU  - Fatimata Mbaye
AU  - Jemila Bouka
AU  - Ahmed Zein
AU  - Anna Ndong
AU  - Mbacké Sembene
Y1  - 2023/05/10
PY  - 2023
N1  - https://doi.org/10.11648/j.ijgg.20231102.11
DO  - 10.11648/j.ijgg.20231102.11
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 38
EP  - 47
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20231102.11
AB  - Cancer is one of the leading causes of death worldwide, with approximately 10 million cancer-related deaths reported in 2020. Approximately 70% of these deaths occurred in developing countries. In 2020, 2.3 million women were diagnosed with breast cancer and 685,000 deaths due to breast cancer were reported worldwide. Cancer is characterized by the presence of most triggers in the genome. Mutations in genes, either passed from one generation to the next or acquired throughout life, can cause breast cancer. Tumor suppressor genes encode proteins that negatively regulate cell proliferation and repress certain oncogenes. One of these genes, the TP53 gene, has multiple biological functions. Understanding the mechanism of action of p53 in breast carcinogenesis has been an important challenge in cancer research. This study aimed to investigate the involvement of alterations in exon 4 of the TP53 gene in Mauritanian patients with breast cancer. The study was conducted using 45 tumor tissue sequences and 35 control sequences. The nature and position of the mutations were determined using Mutation Surveyor V5.1.2 The pathogenicity of the mutations was determined using Polyphen2, SIFT, and Mutation Tester, and their three-dimensional structure was determined using the I-Tasser server. DnaSP version 5.10, MEGA version 7.014, and Arlequin version 3.1 were used to highlight the variability of exon 4 of the TP53 gene. Our results revealed the presence of a single-nucleotide variant at position (c.139 C>T), which causes an amino acid change from proline to serine at codon 47 in the coding region of exon 4 of the TP53 gene. Of note, this variant has already been listed in the database (rs1800371). In addition, five novel mutations were found in the cancer tissue sequences alone, with statistically significant scores. Analyses of genetic variability indicated a relatively high polymorphism in tumor tissue sequences compared with control sequences. This variability may contribute to the involvement of exon 4 mutations in the occurrence of breast cancer in our population, and serves as the first data on TP53 exon 4 alterations in Mauritania.
VL  - 11
IS  - 2
ER  - 

Copy | Download