Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal

Diallo Berenice Raissa; Cissokho Boubacar; Sembene Mbacke

doi:doi:10.11648/j.ijgg.20261403.14

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Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal

Diallo Berenice Raissa^*, Cissokho Boubacar

, Sembene Mbacke

Published in International Journal of Genetics and Genomics (Volume 14, Issue 3)

Received: 2 July 2026 Accepted: 11 August 2026 Published: 20 September 2026

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Abstract

Breast cancer constitutes a major public health problem. In Senegal, this pathology ranks second in terms of incidence and third in terms of mortality among cancers. BRCA1 and BRCA2 are two susceptibility genes for breast and/or ovarian cancer, implicated in hereditary breast cancer cases. These genes have been the subject of extensive research in the context of germline mutations; however, data on their role in sporadic breast cancer, particularly in sub-Saharan African populations such as Senegal, remain scarce or unavailable. To address this gap, the present study analyzed 51 surgical specimens of healthy and cancerous breast tissue to characterize the genotypic profile of BRCA mutations in Senegalese women. Three loci corresponding to founder mutations described in the Ashkenazi Jewish population BRCA1-185delAG, BRCA1-5382insC, and BRCA2-6174delT were targeted. The objectives were to determine the genotypic profile of each population at each locus and assess potential differences, to test genetic equilibrium, and to evaluate genetic differentiation between BRCA1- and BRCA2-associated breast cancer. Comparison of wild-type and mutant allele profiles between the two tissue types revealed no significant difference. Analysis of genetic diversity between healthy and cancerous tissues showed a heterozygote excess at both BRCA1 loci and a heterozygote deficit at the BRCA2 locus. Low genetic differentiation was observed between control and tumor tissues, attributable to the BRCA1-185delAG mutation, with an Fst value of 0.0072. These findings suggest that the BRCA1-185delAG mutation, despite its low penetrance, may be implicated in breast cancer among Senegalese women.

Published in	International Journal of Genetics and Genomics (Volume 14, Issue 3)
DOI	10.11648/j.ijgg.20261403.14
Page(s)	133-147
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2026. Published by Science Publishing Group

Keywords

Breast Cancer, BRCA1, BRCA2, Genetic Diversity, Founder Mutation, Senegal

References

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APA Style

Raissa, D. B., Boubacar, C., Mbacke, S. (2026). Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal. International Journal of Genetics and Genomics, 14(3), 133-147. https://doi.org/10.11648/j.ijgg.20261403.14

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ACS Style

Raissa, D. B.; Boubacar, C.; Mbacke, S. Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal. Int. J. Genet. Genomics 2026, 14(3), 133-147. doi: 10.11648/j.ijgg.20261403.14

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AMA Style

Raissa DB, Boubacar C, Mbacke S. Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal. Int J Genet Genomics. 2026;14(3):133-147. doi: 10.11648/j.ijgg.20261403.14

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@article{10.11648/j.ijgg.20261403.14,
  author = {Diallo Berenice Raissa and Cissokho Boubacar and Sembene Mbacke},
  title = {Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal},
  journal = {International Journal of Genetics and Genomics},
  volume = {14},
  number = {3},
  pages = {133-147},
  doi = {10.11648/j.ijgg.20261403.14},
  url = {https://doi.org/10.11648/j.ijgg.20261403.14},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20261403.14},
  abstract = {Breast cancer constitutes a major public health problem. In Senegal, this pathology ranks second in terms of incidence and third in terms of mortality among cancers. BRCA1 and BRCA2 are two susceptibility genes for breast and/or ovarian cancer, implicated in hereditary breast cancer cases. These genes have been the subject of extensive research in the context of germline mutations; however, data on their role in sporadic breast cancer, particularly in sub-Saharan African populations such as Senegal, remain scarce or unavailable. To address this gap, the present study analyzed 51 surgical specimens of healthy and cancerous breast tissue to characterize the genotypic profile of BRCA mutations in Senegalese women. Three loci corresponding to founder mutations described in the Ashkenazi Jewish population BRCA1-185delAG, BRCA1-5382insC, and BRCA2-6174delT were targeted. The objectives were to determine the genotypic profile of each population at each locus and assess potential differences, to test genetic equilibrium, and to evaluate genetic differentiation between BRCA1- and BRCA2-associated breast cancer. Comparison of wild-type and mutant allele profiles between the two tissue types revealed no significant difference. Analysis of genetic diversity between healthy and cancerous tissues showed a heterozygote excess at both BRCA1 loci and a heterozygote deficit at the BRCA2 locus. Low genetic differentiation was observed between control and tumor tissues, attributable to the BRCA1-185delAG mutation, with an Fst value of 0.0072. These findings suggest that the BRCA1-185delAG mutation, despite its low penetrance, may be implicated in breast cancer among Senegalese women.},
 year = {2026}
}

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TY  - JOUR
T1  - Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal
AU  - Diallo Berenice Raissa
AU  - Cissokho Boubacar
AU  - Sembene Mbacke
Y1  - 2026/09/20
PY  - 2026
N1  - https://doi.org/10.11648/j.ijgg.20261403.14
DO  - 10.11648/j.ijgg.20261403.14
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 133
EP  - 147
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20261403.14
AB  - Breast cancer constitutes a major public health problem. In Senegal, this pathology ranks second in terms of incidence and third in terms of mortality among cancers. BRCA1 and BRCA2 are two susceptibility genes for breast and/or ovarian cancer, implicated in hereditary breast cancer cases. These genes have been the subject of extensive research in the context of germline mutations; however, data on their role in sporadic breast cancer, particularly in sub-Saharan African populations such as Senegal, remain scarce or unavailable. To address this gap, the present study analyzed 51 surgical specimens of healthy and cancerous breast tissue to characterize the genotypic profile of BRCA mutations in Senegalese women. Three loci corresponding to founder mutations described in the Ashkenazi Jewish population BRCA1-185delAG, BRCA1-5382insC, and BRCA2-6174delT were targeted. The objectives were to determine the genotypic profile of each population at each locus and assess potential differences, to test genetic equilibrium, and to evaluate genetic differentiation between BRCA1- and BRCA2-associated breast cancer. Comparison of wild-type and mutant allele profiles between the two tissue types revealed no significant difference. Analysis of genetic diversity between healthy and cancerous tissues showed a heterozygote excess at both BRCA1 loci and a heterozygote deficit at the BRCA2 locus. Low genetic differentiation was observed between control and tumor tissues, attributable to the BRCA1-185delAG mutation, with an Fst value of 0.0072. These findings suggest that the BRCA1-185delAG mutation, despite its low penetrance, may be implicated in breast cancer among Senegalese women.
VL  - 14
IS  - 3
ER  -

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Diallo Berenice Raissa

Department of Animal Biology, Cheikh Anta Diop University of Dakar, Dakar, Senegal

Contact Email
Cissokho Boubacar

Department of Animal Biology, Cheikh Anta Diop University of Dakar, Dakar, Senegal

http://orcid.org/0009-0003-9430-264X
Sembene Mbacke

Department of Animal Biology, Cheikh Anta Diop University of Dakar, Dakar, Senegal

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APA Style

Raissa, D. B., Boubacar, C., Mbacke, S. (2026). Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal. International Journal of Genetics and Genomics, 14(3), 133-147. https://doi.org/10.11648/j.ijgg.20261403.14

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ACS Style

Raissa, D. B.; Boubacar, C.; Mbacke, S. Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal. Int. J. Genet. Genomics 2026, 14(3), 133-147. doi: 10.11648/j.ijgg.20261403.14

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AMA Style

Raissa DB, Boubacar C, Mbacke S. Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal. Int J Genet Genomics. 2026;14(3):133-147. doi: 10.11648/j.ijgg.20261403.14

Copy | Download

@article{10.11648/j.ijgg.20261403.14,
  author = {Diallo Berenice Raissa and Cissokho Boubacar and Sembene Mbacke},
  title = {Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal},
  journal = {International Journal of Genetics and Genomics},
  volume = {14},
  number = {3},
  pages = {133-147},
  doi = {10.11648/j.ijgg.20261403.14},
  url = {https://doi.org/10.11648/j.ijgg.20261403.14},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20261403.14},
  abstract = {Breast cancer constitutes a major public health problem. In Senegal, this pathology ranks second in terms of incidence and third in terms of mortality among cancers. BRCA1 and BRCA2 are two susceptibility genes for breast and/or ovarian cancer, implicated in hereditary breast cancer cases. These genes have been the subject of extensive research in the context of germline mutations; however, data on their role in sporadic breast cancer, particularly in sub-Saharan African populations such as Senegal, remain scarce or unavailable. To address this gap, the present study analyzed 51 surgical specimens of healthy and cancerous breast tissue to characterize the genotypic profile of BRCA mutations in Senegalese women. Three loci corresponding to founder mutations described in the Ashkenazi Jewish population BRCA1-185delAG, BRCA1-5382insC, and BRCA2-6174delT were targeted. The objectives were to determine the genotypic profile of each population at each locus and assess potential differences, to test genetic equilibrium, and to evaluate genetic differentiation between BRCA1- and BRCA2-associated breast cancer. Comparison of wild-type and mutant allele profiles between the two tissue types revealed no significant difference. Analysis of genetic diversity between healthy and cancerous tissues showed a heterozygote excess at both BRCA1 loci and a heterozygote deficit at the BRCA2 locus. Low genetic differentiation was observed between control and tumor tissues, attributable to the BRCA1-185delAG mutation, with an Fst value of 0.0072. These findings suggest that the BRCA1-185delAG mutation, despite its low penetrance, may be implicated in breast cancer among Senegalese women.},
 year = {2026}
}

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TY  - JOUR
T1  - Genetic Variability and Differentiation of the BRCA1 and BRCA2 Genes in Female Breast Cancer in Senegal
AU  - Diallo Berenice Raissa
AU  - Cissokho Boubacar
AU  - Sembene Mbacke
Y1  - 2026/09/20
PY  - 2026
N1  - https://doi.org/10.11648/j.ijgg.20261403.14
DO  - 10.11648/j.ijgg.20261403.14
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 133
EP  - 147
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20261403.14
AB  - Breast cancer constitutes a major public health problem. In Senegal, this pathology ranks second in terms of incidence and third in terms of mortality among cancers. BRCA1 and BRCA2 are two susceptibility genes for breast and/or ovarian cancer, implicated in hereditary breast cancer cases. These genes have been the subject of extensive research in the context of germline mutations; however, data on their role in sporadic breast cancer, particularly in sub-Saharan African populations such as Senegal, remain scarce or unavailable. To address this gap, the present study analyzed 51 surgical specimens of healthy and cancerous breast tissue to characterize the genotypic profile of BRCA mutations in Senegalese women. Three loci corresponding to founder mutations described in the Ashkenazi Jewish population BRCA1-185delAG, BRCA1-5382insC, and BRCA2-6174delT were targeted. The objectives were to determine the genotypic profile of each population at each locus and assess potential differences, to test genetic equilibrium, and to evaluate genetic differentiation between BRCA1- and BRCA2-associated breast cancer. Comparison of wild-type and mutant allele profiles between the two tissue types revealed no significant difference. Analysis of genetic diversity between healthy and cancerous tissues showed a heterozygote excess at both BRCA1 loci and a heterozygote deficit at the BRCA2 locus. Low genetic differentiation was observed between control and tumor tissues, attributable to the BRCA1-185delAG mutation, with an Fst value of 0.0072. These findings suggest that the BRCA1-185delAG mutation, despite its low penetrance, may be implicated in breast cancer among Senegalese women.
VL  - 14
IS  - 3
ER  -

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