Genetic Mutations in Senegalese Women with Breast Cancer
Fatimata Mbaye1, Mbacké Sembene1
1Genomic laboratory, Department of animal biology, Faculty of sciences and technology, Cheikh Anta Diop university, Dakar, Senegal.
Asian Pacific Journal of Cancer Prevention : APJCP
|July 29, 2025
Summary
Mitochondrial mutations and microsatellite instability significantly impact breast cancer in Senegalese women. Specific genetic markers, BAT-25 stability and BAT-26 instability, play crucial roles in breast carcinogenesis and patient survival.
Area of Science:
- Genetics
- Oncology
- Mitochondrial Biology
Background:
- Breast cancer exhibits significant global health impact.
- Understanding genetic underpinnings is crucial for targeted therapies.
- Senegalese women present unique epidemiological profiles for breast cancer.
Purpose of the Study:
- To investigate the role of nucleotide mutations in mitochondrial genes (MTCYB, D-loop) and microsatellite locus instability (BAT-25, BAT-26) in breast cancer among Senegalese women.
- To correlate genetic findings with clinicopathological features and patient survival.
Main Methods:
- Analysis of 120 healthy and cancerous tissue samples using PCR/sequencing.
- Determination of nucleotide variability in MTCYB and D-loop genes.
- Assessment of microsatellite polymorphisms at BAT-25 and BAT-26 loci.
- Structural and correlation analyses with clinicopathological data.
Main Results:
- Elevated frequencies of MTCYB and D-loop variations in cancerous tissues, with MTCYB more affected.
- Microsatellite instability (MSI-H) observed in 60.71% of tumors at BAT-25 and BAT-26 loci.
- Impact of tumor characteristics (number of lymph nodes, histological grade) on patient survival.
- Negative survival impact from D-loop mutations (sites 150, 152) and BAT-25 stability; positive impact from BAT-26 instability.
Conclusions:
- Mitochondrial mutations are highly prevalent in Senegalese breast cancer.
- BAT-25 marker stability and BAT-26 marker instability are predominant factors in breast carcinogenesis.
- Genetic alterations provide insights into tumor heterogeneity and patient prognosis.
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