Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
Linus Paul RweyemamuBüşra Kurt GültaşlarGokce AkanNazima DharseeLucy A NamkingaSylvester L LyantagayeYazıcı HülyaFatmahan AtalarPublished in: Cancer medicine (2022)
Our study provides first insight into BC genetic landscape by the use of NGS in the under-represented East African Tanzanian populations. Our findings support the importance of genetic risk factors in BC etiology in Tanzania and showed a relatively high overall prevalence (6%) of germline BRCA1/2 pathogenic variants in BC patients. Therefore, our results indicate that BRCA1/2 pathogenic variants may well contribute to BC incidence in Tanzania. Thus, the identification of frequent variants in BRCA1/2 genes will enable implementation of rapid, inexpensive population-specific BRCA1/2 genetic testing, particularly for triple-negative BC patients known for their high prevalence in Tanzania. This will, in turn, greatly contributes to provide effective therapeutic strategies.
Keyphrases
- risk factors
- end stage renal disease
- copy number
- genome wide
- ejection fraction
- breast cancer risk
- chronic kidney disease
- newly diagnosed
- primary care
- prognostic factors
- peritoneal dialysis
- healthcare
- dna repair
- bioinformatics analysis
- dna methylation
- dna damage
- quality improvement
- single cell
- loop mediated isothermal amplification