Abdulrahim Reem, Al-Sayegh Hasan, Al-Kiyumi Sara, Crous Ilse, Baimani Khalid Al, Aljarrah Adil, Wyk Chantel Van, Alsayegh Abeer
Department of Genomics, Sultan Qaboos Comprehensive Cancer Centre, University Medical City, Muscat, Oman.
Department of Clinical Research, Sultan Qaboos Comprehensive Cancer Centre, University Medical City, Muscat, Oman.
Sultan Qaboos Univ Med J. 2025 May 2;25(1):341-348. doi: 10.18295/2075-0528.2843.
This study aimed to explore the clinical, histopathological and demographic characteristics of female Omani breast cancer (BC) patients to identify possible predictors of a positive test result. Additionally, it aimed to evaluate the applicability of the National Comprehensive Cancer Network (NCCN) guidelines for germline genetic testing in risk assessment.
This study was conducted at the Sultan Qaboos Comprehensive Cancer Centre, Oman, between September 2021 and September 2022. The variables examined included age, disease stage, presence of metastasis at diagnosis, hormone receptor status, human epidermal growth factor receptor 2 status, histopathological type, Ki-67 levels, family history of cancer (presence/absence) and the applicability of NCCN guidelines. Data were retrieved and summarised using electronic patient files and family pedigrees collected by geneticists and genetic counsellors. Logistic regression analysis was used to identify predictors of a positive test result.
Except for age, there were no statistically significant differences in the baseline characteristics between patients with positive and negative genetic testing results. Furthermore, age was found to be a poor screening tool for differentiating between positive and negative patients, as indicated by an area under the receiver operating characteristic curve of 0.67.
A strict application of the NCCN testing criteria in Omani BC patients may lead to underdiagnosis of hereditary BC. Universal testing of all BC patients could be appropriate for Omani individuals with BC, provided that careful consideration is given to cost-effectiveness and the testing methods employed.
本研究旨在探讨阿曼女性乳腺癌（BC）患者的临床、组织病理学和人口统计学特征，以确定检测结果呈阳性的可能预测因素。此外，本研究旨在评估美国国立综合癌症网络（NCCN）种系基因检测指南在风险评估中的适用性。
本研究于2021年9月至2022年9月在阿曼苏丹卡布斯综合癌症中心进行。所检查的变量包括年龄、疾病分期、诊断时是否存在转移、激素受体状态、人表皮生长因子受体2状态、组织病理学类型、Ki-67水平、癌症家族史（有无）以及NCCN指南的适用性。数据通过遗传学家和遗传咨询师收集的电子患者档案和家族谱系进行检索和汇总。采用逻辑回归分析确定检测结果呈阳性的预测因素。
除年龄外，基因检测结果为阳性和阴性的患者在基线特征方面无统计学显著差异。此外，年龄被发现是区分阳性和阴性患者的较差筛查工具，受试者工作特征曲线下面积为0.67即表明了这一点。
在阿曼BC患者中严格应用NCCN检测标准可能会导致遗传性BC的诊断不足。对所有BC患者进行普遍检测可能适用于阿曼的BC患者，但前提是要仔细考虑成本效益和所采用的检测方法。
