The study, with the contribution of a researcher from Near East University, delves into the escalating prevalence of breast cancer (BC) among East African women, hinting at a potential key role of genetic risk factors in the disease’s etiology. Focusing on germline pathogenic variants in BRCA1 and BRCA2 (BRCA1/2), which are known to heighten the lifetime risk of BC, the research aims to unveil the prevalence and spectrum of germline single nucleotide variants/insertions and deletions (SNVs/indels), along with copy number variations (CNVs) in BRCA1/2 within the Tanzanian BC patient population.
Utilizing next-generation sequencing (NGS), the study examined 100 BC patients for BRCA1/2 variants, employing Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay for confirmation of SNVs/indels and CNVs, respectively. The results unveiled six germline SNV/indel pathogenic variants, with five identified in BRCA1 and one in BRCA2. Notably, a variant of uncertain clinical significance (VUS) was also found in one patient. Remarkably, CNVs were not detected in any of the BC patients.
Crucially, the study revealed a significant association between BRCA1/2 variant carriers and triple-negative BC patients within the cohort (p = 0.019). This underscores the potential relevance of genetic risk factors in the etiology of BC in Tanzania. With an overall prevalence of 6% of germline BRCA1/2 pathogenic variants in BC patients, the findings emphasize the importance of understanding the genetic landscape in East African Tanzanian populations.
This study provides crucial insights into the genetic factors influencing BC in a region underrepresented in such research. The identified variants open avenues for rapid and cost-effective population-specific BRCA1/2 genetic testing, particularly beneficial for triple-negative BC patients, who exhibit a high prevalence in Tanzania. This approach is expected to contribute significantly to the development of effective therapeutic strategies, addressing the specific genetic landscape of breast cancer within the Tanzanian population.
More Information:
https://onlinelibrary.wiley.com/doi/full/10.1002/cam4.5091
