卢旺达乳腺癌和前列腺癌病例中癌症基因的种系序列变异

Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.

作者信息

Manirakiza Achille Vc, Baichoo Shakuntala, Uwineza Annette, Dukundane Damas, Uwinkindi Francois, Ngendahayo Edouard, Rubagumya Fidel, Muhawenimana Emmanuel, Nsabimana Nicaise, Nzeyimana Innocent, Maniragaba Theoneste, Ntirenganya Faustin, Rurangwa Ephrem, Mugenzi Pacifique, Mutamuliza Janviere, Runanira Daniel, Niyibizi Brandon A, Rugengamanzi Eulade, Besada Jeffrey, Nielsen Sarah M, Bucknor Brianna, Nussbaum Robert L, Koeller Diane, Andrews Caroline, Mutesa Leon, Fadelu Temidayo, Rebbeck Timothy R

机构信息

Oncology Unit, Department of Medicine, King Faisal Hospital, Kigali, Rwanda.

College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.

出版信息

NPJ Genom Med. 2024 Nov 24;9(1):61. doi: 10.1038/s41525-024-00446-4.

DOI:10.1038/s41525-024-00446-4

PMID:39582020

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11586404/

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.

摘要

撒哈拉以南非洲地区（SSA）的癌症基因数据有限。卢旺达的女性乳腺癌（fBC）、男性乳腺癌（mBC）和前列腺癌（PC）患者接受了种系基因检测和咨询。收集了人口统计学和疾病特异性信息。使用多癌基因检测板来识别种系致病变异（PV）和意义未明的变异（VUS）。400名患者（201例乳腺癌患者和199例前列腺癌患者）同意并被纳入该研究。342名患者的数据可用：180例乳腺癌患者（175名女性和5名男性）和162名前列腺癌男性患者。在18.3%的女性乳腺癌、4.3%的前列腺癌和20%的男性乳腺癌中观察到PV。BRCA2是最常见的PV。在非PV携带者中，65%有≥1个VUS：前列腺癌中为31.8%，乳腺癌（女性和男性）中为33.6%。我们的研究结果强调了在SSA癌症管理中进行种系基因检测和咨询的必要性。