Bibliographic Details
| Title: |
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases |
| 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 |
| Source: |
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-10 (2024) |
| Publisher Information: |
Nature Portfolio, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Medicine
LCC:Genetics |
| Subject Terms: |
Medicine, Genetics, QH426-470 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2056-7944 |
| Relation: |
https://doaj.org/toc/2056-7944 |
| DOI: |
10.1038/s41525-024-00446-4 |
| Access URL: |
https://doaj.org/article/e84d226c0a264bd4b37ba73840cae8ff |
| Accession Number: |
edsdoj.84d226c0a264bd4b37ba73840cae8ff |
| Database: |
Directory of Open Access Journals |
