Clinical Predictors of Inherited Breast Cancer at a Comprehensive Cancer Centre in Oman: Is it time for universal germline genetic testing?

Q3 Medicine
Reem Abdulrahim, Hasan Al-Sayegh, Sara Al-Kiyumi, Ilse Crous, Khalid Al Baimani, Adil Aljarrah, Chantel Van Wyk, Abeer Alsayegh
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Abstract

Objectives: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Abstract Image

Abstract Image

阿曼综合癌症中心遗传性乳腺癌的临床预测因素:是普及生殖系基因检测的时候了吗?
目的:本研究旨在探讨阿曼女性乳腺癌(BC)患者的临床、组织病理学和人口学特征,以确定检测结果阳性的可能预测因素。此外,它旨在评估国家综合癌症网络(NCCN)生殖系基因检测指南在风险评估中的适用性。方法: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。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、组织病理类型、Ki-67水平、癌症家族史(存在/不存在)和NCCN指南的适用性。数据通过电子病历和由遗传学家和遗传咨询师收集的家庭系谱进行检索和总结。采用Logistic回归分析确定阳性检测结果的预测因素。结果:除年龄外,基因检测阳性和阴性患者的基线特征无统计学差异。此外,年龄并不是区分阳性和阴性患者的一个较差的筛选工具,这一点由接受者工作特征曲线下的面积为0.67所表明。结论:在阿曼BC患者中严格应用NCCN检测标准可能导致遗传性BC的漏诊。如果仔细考虑成本效益和所采用的检测方法,所有BC患者的普遍检测可能适用于阿曼BC患者。
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来源期刊
CiteScore
2.00
自引率
0.00%
发文量
86
审稿时长
7 weeks
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