Most of endometrial cancers are sporadic, with 5% or less being attributed to inherited pathogenic germline mutations and mostly related to the Lynch syndrome. To our knowledge, this is the first study to investigate patterns and frequencies of germline mutations in patients with endometrial cancer in an Arab region. Consecutive patients with endometrial cancer (n = 130), regardless of their age and family history, were enrolled. Germline genetic testing, using an 84-gene panel, was performed on all. Almost half of the patient population (n = 64, 49.2%) was tested based on international guidelines, while the remaining patients (n = 66, 50.8%) were tested as part of an ongoing universal germline genetic testing program. Among the whole group, 18 (13.8%) patients had positive pathogenic or likely pathogenic (P/LP) germline variants. The most common variants encountered were inMLH1(n = 4, 22.2%),PMS2(n = 3, 16.7%),ATM,MSH2,MUTYH, andBRCA2(n = 2, 11.1% each). In addition, three (2.3%) patients were found to have an increased risk allele of theAPCgene. P/LP variants were more common among patients with carcinosarcoma and clear cell carcinoma, younger patients (age ≤ 50 years), and in patients with a non-metastatic disease. We conclude that germline genetic variants, mostly in genes related to the Lynch syndrome, are relatively common among Arab patients with endometrial cancer.
大多数子宫内膜癌为散发性病例，其中仅5%或更少比例归因于遗传性致病性胚系突变，且主要与林奇综合征相关。据我们所知，这是首个在阿拉伯地区针对子宫内膜癌患者胚系突变模式与频率的研究。研究连续纳入130例子宫内膜癌患者，不设年龄与家族史限制。所有患者均接受84基因panel的胚系基因检测。近半数患者（64例，49.2%）依据国际指南进行检测，其余患者（66例，50.8%）则作为正在进行的普适性胚系基因检测项目组成部分接受检测。整体人群中，18例（13.8%）患者检出致病性或可能致病性（P/LP）胚系变异。最常见的变异基因包括MLH1（4例，22.2%）、PMS2（3例，16.7%），以及ATM、MSH2、MUTYH和BRCA2（各2例，各占11.1%）。此外，3例（2.3%）患者检出APC基因风险等位基因。P/LP变异在癌肉瘤与透明细胞癌患者、年轻患者（年龄≤50岁）以及非转移性疾病患者中更为常见。本研究结论表明，胚系基因变异在阿拉伯子宫内膜癌患者中相对常见，且主要集中于林奇综合征相关基因。
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