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。

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2024-11-24 DOI:10.1038/s41525-024-00446-4

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

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引用次数: 0

摘要

撒哈拉以南非洲地区（SSA）的癌症基因数据十分有限。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。使用多癌症基因面板识别种系致病变异（PV）和意义不明的变异（VUS）。400 名患者（201 名 BC 患者和 199 名 PC 患者）同意并被纳入研究。有 342 名患者的数据可用：其中 180 名 BC 患者（175 名女性和 5 名男性）和 162 名 PC 男性患者。18.3%的前列腺癌患者、4.3%的多发性前列腺癌患者和20%的间变性前列腺癌患者观察到了PV。BRCA2 是最常见的 PV。在非 PV 携带者中，65% 的人有≥1 个 VUS：31.8% 在 PC 中，33.6% 在 BC 中（女性和男性）。我们的研究结果凸显了在 SSA 的癌症管理中进行种系遗传检测和咨询的必要性。

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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.

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.