大多数子宫内膜癌是散发性的，5%或更少的归因于遗传性致病性种系突变，主要与林奇综合征有关。据我们所知,这是第一项调查阿拉伯地区子宫内膜癌患者种系突变模式和频率的研究.连续子宫内膜癌患者（n=130），不管他们的年龄和家族史，已注册。胚系基因检测,使用84基因的面板，对所有人都执行了。几乎一半的患者（n=64，49.2％）根据国际指南进行了测试，而其余患者（n=66，50.8%）作为正在进行的通用种系基因检测计划的一部分进行了检测。在整个团队中，18例(13.8%)患者具有阳性致病性或可能致病性(P/LP)种系变异。最常见的变异是在MLH1（n=4，22.2%），PMS2（n=3，16.7%），ATM,MSH2,MUTYH,和BRCA2（n=2，各11.1%）。此外,3例(2.3%)患者被发现APC基因的风险等位基因增加.P/LP变异在癌肉瘤和透明细胞癌患者中更常见。年轻患者（年龄≤50岁），以及患有非转移性疾病的患者。我们得出结论，种系遗传变异，主要在与林奇综合征相关的基因中，在患有子宫内膜癌的阿拉伯患者中相对常见。
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 in MLH1 (n = 4, 22.2%), PMS2 (n = 3, 16.7%), ATM, MSH2, MUTYH, and BRCA2 (n = 2, 11.1% each). In addition, three (2.3%) patients were found to have an increased risk allele of the APC gene. 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.
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