Hajeri Amani Al, Awadhi Amna Al, Kumar Nitya, Jassim Ghufran
Genetics Center, Government Hospitals, Manama P.O. Box 12, Bahrain.
The Royal College of Surgeons in Ireland, Medical University of Bahrain, Busaiteen P.O. Box 15503, Bahrain.
J Clin Med. 2025 Jun 26;14(13):4536. doi: 10.3390/jcm14134536.
Breast cancer (BC) is the leading female cancer globally, with Bahrain having the highest incidence in the GCC. In this study, we aimed to identify and describe the high-risk pathogenic/likely pathogenic mutations in a cohort of 160 Bahraini patients who underwent genetic testing for hereditary cancer susceptibility genes. : This study included 160 women referred to Bahrain's Government Hospitals for genetic analysis between January 2021 and May 2024. All women underwent NGS cancer gene panel testing. Demographic and clinical data were recorded for each patient. Categorical variables were described using frequencies and percentages, and continuous data was depicted using means and standard deviations or medians. : Pathogenicity was significantly higher in individuals with high-risk mutations compared to those with medium- and low-risk mutations. However, mortality was highest among those with medium-risk mutations, exceeding that of both the high- and low-risk groups. : In Bahrain, the genetic profile of BC germline mutations aligns closely with international data. However, further research is needed to assess moderate- and low-risk mutations and their pathogenicity within the diverse ethnic populations of the Middle East.
乳腺癌（BC）是全球女性最常见的癌症，巴林在海湾合作委员会（GCC）中发病率最高。在本研究中，我们旨在识别和描述160名接受遗传性癌症易感性基因检测的巴林患者队列中的高风险致病/可能致病突变。：本研究纳入了2021年1月至2024年5月期间转诊至巴林政府医院进行基因分析的160名女性。所有女性均接受了二代测序（NGS）癌症基因panel检测。记录了每位患者的人口统计学和临床数据。分类变量用频率和百分比描述，连续数据用均值、标准差或中位数描述。：与中低风险突变个体相比，高风险突变个体的致病性显著更高。然而，中风险突变个体的死亡率最高，超过了高风险和低风险组。：在巴林，BC种系突变的基因谱与国际数据密切相符。然而，需要进一步研究来评估中东不同种族人群中的中低风险突变及其致病性。
