Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases
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 w...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2024-11-01
|
| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-024-00446-4 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850064537897664512 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Achille VC. Manirakiza |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e84d226c0a264bd4b37ba73840cae8ff |
| institution | DOAJ |
| issn | 2056-7944 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj-art-e84d226c0a264bd4b37ba73840cae8ff2025-08-20T02:49:16ZengNature Portfolionpj Genomic Medicine2056-79442024-11-019111010.1038/s41525-024-00446-4Germline sequence variation in cancer genes in Rwandan breast and prostate cancer casesAchille VC. Manirakiza0Shakuntala Baichoo1Annette Uwineza2Damas Dukundane3Francois Uwinkindi4Edouard Ngendahayo5Fidel Rubagumya6Emmanuel Muhawenimana7Nicaise Nsabimana8Innocent Nzeyimana9Theoneste Maniragaba10Faustin Ntirenganya11Ephrem Rurangwa12Pacifique Mugenzi13Janviere Mutamuliza14Daniel Runanira15Brandon A. Niyibizi16Eulade Rugengamanzi17Jeffrey Besada18Sarah M. Nielsen19Brianna Bucknor20Robert L. Nussbaum21Diane Koeller22Caroline Andrews23Leon Mutesa24Temidayo Fadelu25Timothy R. Rebbeck26Oncology Unit, Department of Medicine, King Faisal HospitalDepartment of Digital Technologies, University of MauritiusCentre for Human Genetics, College of Medicine and Health Sciences, University of RwandaOncology Unit, Department of Medicine, King Faisal HospitalRwanda Biomedical Center, Ministry of HealthUrology Unit, Department of Surgery, King Faisal HospitalCollege of Medicine and Health Sciences, University of RwandaKigali University Teaching HospitalButaro Cancer Center of ExcellenceButare University Teaching HospitalRwanda Biomedical Center, Ministry of HealthCollege of Medicine and Health Sciences, University of RwandaRwanda Military Referral and Teaching HospitalRwanda Cancer Center, Rwanda Military HospitalRwanda Military Referral and Teaching HospitalNemba District HospitalRwanda Cancer ReliefButaro Cancer Center of ExcellenceInvitae, IncInvitae, IncInvitae, IncInvitae, IncDana Farber Cancer InstituteDana Farber Cancer InstituteCentre for Human Genetics, College of Medicine and Health Sciences, University of RwandaDana Farber Cancer InstituteDana Farber Cancer InstituteAbstract 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.https://doi.org/10.1038/s41525-024-00446-4 |
| spellingShingle | 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 Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases npj Genomic Medicine |
| title | Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases |
| title_full | Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases |
| title_fullStr | Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases |
| title_full_unstemmed | Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases |
| title_short | Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases |
| title_sort | germline sequence variation in cancer genes in rwandan breast and prostate cancer cases |
| url | https://doi.org/10.1038/s41525-024-00446-4 |
| work_keys_str_mv | AT achillevcmanirakiza germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT shakuntalabaichoo germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT annetteuwineza germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT damasdukundane germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT francoisuwinkindi germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT edouardngendahayo germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT fidelrubagumya germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT emmanuelmuhawenimana germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT nicaisensabimana germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT innocentnzeyimana germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT theonestemaniragaba germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT faustinntirenganya germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT ephremrurangwa germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT pacifiquemugenzi germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT janvieremutamuliza germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT danielrunanira germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT brandonaniyibizi germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT euladerugengamanzi germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT jeffreybesada germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT sarahmnielsen germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT briannabucknor germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT robertlnussbaum germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT dianekoeller germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT carolineandrews germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT leonmutesa germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT temidayofadelu germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases AT timothyrrebbeck germlinesequencevariationincancergenesinrwandanbreastandprostatecancercases |