Screening of germline mutations in young Rwandan patients with breast cancers

[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 the 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 40 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. One patient showed a missense likely pathogenic TP53 variant. 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 understand the impact of genetic factors as well as the environmental risk factors in the development of breast cancer in young Rwandans. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

Disciplines :

Genetics & genetic processes

Author, co-author :

Uyisenga, Jeanne ; Université de Liège - ULiège > GIGA

SEGERS, Karin ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Centre d'oncogénétique

Lumaka, A. Z.; Laboratory of Human Genetics, GIGA Research Institute, University of Liège, Liège, Belgium

Mugenzi, P.; Rwanda Military Hospital, Kigali, Rwanda

FASQUELLE, Corinne ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire Cytogénétique

Boujemla, Bouchra ; Université de Liège - ULiège > Cancer-Human Genetics

JOSSE, Claire ; Centre Hospitalier Universitaire de Liège - CHU > Département de médecine interne > Service d'oncologie médicale

Mutesa, L.; Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda

Bours, Vincent ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine

Language :

English

Title :

Screening of germline mutations in young Rwandan patients with breast cancers

Publication date :

2020

Journal title :

Molecular Genetics and Genomic Medicine

eISSN :

2324-9269

Publisher :

Wiley-Blackwell

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 20 February 2021

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