npj Genomic Medicine (Nov 2024)
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases
- Achille VC. Manirakiza,
- Shakuntala Baichoo,
- Annette Uwineza,
- Damas Dukundane,
- Francois Uwinkindi,
- Edouard Ngendahayo,
- Fidel Rubagumya,
- Emmanuel Muhawenimana,
- Nicaise Nsabimana,
- Innocent Nzeyimana,
- Theoneste Maniragaba,
- Faustin Ntirenganya,
- Ephrem Rurangwa,
- Pacifique Mugenzi,
- Janviere Mutamuliza,
- Daniel Runanira,
- Brandon A. Niyibizi,
- Eulade Rugengamanzi,
- Jeffrey Besada,
- Sarah M. Nielsen,
- Brianna Bucknor,
- Robert L. Nussbaum,
- Diane Koeller,
- Caroline Andrews,
- Leon Mutesa,
- Temidayo Fadelu,
- Timothy R. Rebbeck
Affiliations
- Achille VC. Manirakiza
- Oncology Unit, Department of Medicine, King Faisal Hospital
- Shakuntala Baichoo
- Department of Digital Technologies, University of Mauritius
- Annette Uwineza
- Centre for Human Genetics, College of Medicine and Health Sciences, University of Rwanda
- Damas Dukundane
- Oncology Unit, Department of Medicine, King Faisal Hospital
- Francois Uwinkindi
- Rwanda Biomedical Center, Ministry of Health
- Edouard Ngendahayo
- Urology Unit, Department of Surgery, King Faisal Hospital
- Fidel Rubagumya
- College of Medicine and Health Sciences, University of Rwanda
- Emmanuel Muhawenimana
- Kigali University Teaching Hospital
- Nicaise Nsabimana
- Butaro Cancer Center of Excellence
- Innocent Nzeyimana
- Butare University Teaching Hospital
- Theoneste Maniragaba
- Rwanda Biomedical Center, Ministry of Health
- Faustin Ntirenganya
- College of Medicine and Health Sciences, University of Rwanda
- Ephrem Rurangwa
- Rwanda Military Referral and Teaching Hospital
- Pacifique Mugenzi
- Rwanda Cancer Center, Rwanda Military Hospital
- Janviere Mutamuliza
- Rwanda Military Referral and Teaching Hospital
- Daniel Runanira
- Nemba District Hospital
- Brandon A. Niyibizi
- Rwanda Cancer Relief
- Eulade Rugengamanzi
- Butaro Cancer Center of Excellence
- Jeffrey Besada
- Invitae, Inc
- Sarah M. Nielsen
- Invitae, Inc
- Brianna Bucknor
- Invitae, Inc
- Robert L. Nussbaum
- Invitae, Inc
- Diane Koeller
- Dana Farber Cancer Institute
- Caroline Andrews
- Dana Farber Cancer Institute
- Leon Mutesa
- Centre for Human Genetics, College of Medicine and Health Sciences, University of Rwanda
- Temidayo Fadelu
- Dana Farber Cancer Institute
- Timothy R. Rebbeck
- Dana Farber Cancer Institute
- DOI
- https://doi.org/10.1038/s41525-024-00446-4
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 10
Abstract
Abstract Cancer genetic data from Sub-Saharan African (SSA) are limited. Patients with female breast (fBC), male breast (mBC), and prostate cancer (PC) in Rwanda underwent germline genetic testing and counseling. Demographic and disease-specific information was collected. A multi-cancer gene panel was used to identify germline Pathogenic Variants (PV) and Variants of Uncertain Significance (VUS). 400 patients (201 with BC and 199 with PC) were consented and recruited to the study. Data was available for 342 patients: 180 with BC (175 women and 5 men) and 162 men with PC. PV were observed in 18.3% fBC, 4.3% PC, and 20% mBC. BRCA2 was the most common PV. Among non-PV carriers, 65% had ≥1 VUS: 31.8% in PC and 33.6% in BC (female and male). Our findings highlight the need for germline genetic testing and counseling in cancer management in SSA.
