[en] Background: In Sub-Saharan Africa breast cancer is commonly detected at younger age and the profile is more aggressive with a high mortality rate compared to European countries. It is suggested that African specific genetic background plays a key role in this matter. The present study aimed at understanding the role of genetic factors in breast cancer development in young Rwandan.
Methods: We performed a massive parallel sequencing on Illumina MiSeq NGS system for the screening of 26 genes associated with hereditary breast cancer from forty patients under 35 years old from two University Teaching Hospitals in Kigali, Rwanda. Sanger sequencing was used to confirm pathogenic and likely pathogenic mutations.
Results: Five patients out of 40 (12.5%) presented with pathogenic mutations including four patients (10%) carrying BRCA1 or BRCA2 pathogenic variants while one patient showing a missense likely pathogenic TP53Varian. We have also detected additional missense, intronic, and 3’UTR variants of unknown significance in all study participants.
Conclusion: This preliminary study suggests that the frequency of germline mutations in young Rwandan patients with breast cancer is similar to the observations made in Caucasians. However, further large studies including patients and controls are needed to better investigate the additional genetic factors as well as the impact of the environmental risk factors in the development of breast cancer in young Rwandans.
