Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases
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.
Authors
- Shakuntala Baichoo (ORCID: https://orcid.org/0000-0002-9335-1939)
- Annette Uwineza (ORCID: https://orcid.org/0000-0003-1749-0395)
- Pacifique Mugenzi
- Eulade Rugengamanzi (ORCID: https://orcid.org/0000-0003-0385-3706)
- Nicaise Nsabimana
- Edouard Ngendahayo
- Caroline Andrews (ORCID: https://orcid.org/0000-0001-5818-4365)
- Innocent Nzeyimana (ORCID: https://orcid.org/0000-0002-3359-3338)
- Theoneste Maniragaba (ORCID: https://orcid.org/0000-0002-0746-3011)
- Sarah M. Nielsen (ORCID: https://orcid.org/0000-0002-5916-6393)
- Temidayo Fadelu (ORCID: https://orcid.org/0000-0002-1323-4119)
- Léon Mutesa (ORCID: https://orcid.org/0000-0002-5308-3706)
- Faustin Ntirenganya (ORCID: https://orcid.org/0000-0001-8886-8100)
- E. Rurangwa (ORCID: https://orcid.org/0000-0002-3798-3878)
- François Uwinkindi (ORCID: https://orcid.org/0000-0001-8087-8443)
- Brandon Asuman Niyibizi (ORCID: https://orcid.org/0000-0003-4041-709X)
- Damas Dukundane
- Brianna Bucknor
- Fidel Rubagumya (ORCID: https://orcid.org/0000-0002-8129-5714)
- Timothy Richard Rebbeck (ORCID: https://orcid.org/0000-0002-4799-1900)
- Diane R. Koeller (ORCID: https://orcid.org/0000-0003-1217-9514)
- Emmanuel Muhawenimana (ORCID: https://orcid.org/0000-0002-3377-3208)
- Jeffrey Besada
- Janvière Mutamuliza
- Achille Manirakiza
- Robert L. Nussbaum
- Daniel Runanira
Institutions
- Harvard University (US)
- University of Rwanda (RW)
- University of California San Francisco Medical Center (US)
- Dana-Farber Cancer Institute (US)
- Centre Hospitalier Universitaire de Kigali (RW)
- Rwanda Military Hospital (RW)
- Rwanda Biomedical Center (RW)
- Invitae (United States) (US)
- University Teaching Hospital of Butare (RW)
- Ministry of Health (RW)
- University of Mauritius (MU)
Publication Details
- Journal
- npj Genomic Medicine
- Published
- 2024-11-24
- DOI
- https://doi.org/10.1038/s41525-024-00446-4
- Citations
- 2
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- National Cancer Institute