Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases
Year: 2024
Type: article
Study design: Observational Study
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.
Source: npj Genomic Medicine
Authors: 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
Institutions: University of Rwanda, King Faisal Hospital Rwanda, University of Mauritius, Centre Hospitalier Universitaire de Kigali, Rwanda Biomedical Center, Ministry of Health, Rwanda Military Hospital, University Teaching Hospital of Butare, Invitae (United States), University of California, San Francisco, Dana-Farber Cancer Institute, Harvard University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,890
OpenAlex ID: W4404656274