使用多基因组基因检测的前列腺癌患者中致病性基因变异的模式和频率。

IF 2.1 Q3 ONCOLOGY

World Journal of Oncology Pub Date : 2024-10-01 Epub Date: 2024-07-18 DOI:10.14740/wjon1896

Ramiz Abu Hijlih, Baha Sharaf, Samer Salah, Hira Bani Hani, Sarah M Nielsen, Brandie Heald, Edward D Esplin, Rami Ghanem, Abdulla Alzibdeh, Tamer Al-Batsh, Yosra Al-Masri, Hikmat Abdel-Razeq

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引用次数: 0

摘要

背景：种系基因检测（GGT）对前列腺癌（PCa）患者的治疗具有重要意义。在此，我们报告了新诊断出的阿拉伯裔 PCa 患者中致病性/可能致病性种系变异（P/LPGVs）的模式和频率：符合美国国立综合癌症网络（NCCN）GGT资格标准的患者可获得19个基因的PCa基因组或扩展的84个基因的多癌症基因组：在研究期间，共有 231 名患者入组，其中 107 人（46.3%）在确诊时患有转移性疾病。共有 17 名患者（7.4%）检测到 17 个 P/LPGVs。在使用 19 个基因面板进行 GGT 的 113 例（48.9%）患者中，有 8 例（7.1%）出现了 P/LPGV，而在使用扩展 84 个基因面板进行 GGT 的 118 例（51.1%）患者中，有 9 例（7.6%）出现了 P/LPGV（P=0.88）。与接受 19 个 PCa 基因检测组（35 人，30.9%）相比，接受 84 个基因扩增组检测组的不确定意义变异（VUS）率更高（73 人，61.9%）（P = 0.001）。DNA损伤修复（DDR）基因中的P/LPGVs是最常见的P/LPGVs发现，其中最常见的是BRCA2、CHEK2和TP53：这项研究首次描述了阿拉伯裔 PCa 患者的种系遗传特征。所有检测到的P/LPGVs都具有潜在的可操作性，大多数变异都能通过PCa特异性面板检测到。

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Patterns and Frequency of Pathogenic Germline Variants Among Prostate Cancer Patients Utilizing Multi-Gene Panel Genetic Testing.

Background: Germline genetic testing (GGT) has significant implications in the management of patients with prostate cancer (PCa). Herein, we report on patterns and frequency of pathogenic/likely pathogenic germline variants (P/LPGVs) among newly diagnosed Arab patients with PCa.

Methods: Patients meeting the National Comprehensive Cancer Network (NCCN) eligibility criteria for GGT were offered a 19-gene PCa panel or an expanded 84-gene multi-cancer panel.

Results: During the study period, 231 patients were enrolled; 107 (46.3%) had metastatic disease at diagnosis. In total, 17 P/LPGVs were detected in 17 patients (7.4%). Among the 113 (48.9%) patients who underwent GGT with the 19-gene panel, eight (7.1%) had P/LPGVs, compared to nine (7.6%) of the 118 (51.1%) who did GGT through the expanded 84-gene panel (P = 0.88). Variant of uncertain significance (VUS) rate was higher (n = 73, 61.9%) among the group who underwent expanded 84-gene panel testing compared to those who underwent the 19-gene PCa panel (n = 35, 30.9%) (P = 0.001). P/LPGVs in DNA damage repair (DDR) genes, most frequently BRCA2, CHEK2 and TP53, were the most common P/LPGVs findings.

Conclusion: This study is the first to characterize the germline genetic profile of an Arab population with PCa. All detected P/LPGVs were potentially actionable, with most variants able to be detected with a PCa-specific panel.

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来源期刊

World Journal of Oncology ONCOLOGY-

CiteScore

6.10

自引率

15.40%

发文量

期刊介绍： World Journal of Oncology, bimonthly, publishes original contributions describing basic research and clinical investigation of cancer, on the cellular, molecular, prevention, diagnosis, therapy and prognosis aspects. The submissions can be basic research or clinical investigation oriented. This journal welcomes those submissions focused on the clinical trials of new treatment modalities for cancer, and those submissions focused on molecular or cellular research of the oncology pathogenesis. Case reports submitted for consideration of publication should explore either a novel genomic event/description or a new safety signal from an oncolytic agent. The areas of interested manuscripts are these disciplines: tumor immunology and immunotherapy; cancer molecular pharmacology and chemotherapy; drug sensitivity and resistance; cancer epidemiology; clinical trials; cancer pathology; radiobiology and radiation oncology; solid tumor oncology; hematological malignancies; surgical oncology; pediatric oncology; molecular oncology and cancer genes; gene therapy; cancer endocrinology; cancer metastasis; prevention and diagnosis of cancer; other cancer related subjects. The types of manuscripts accepted are original article, review, editorial, short communication, case report, letter to the editor, book review.