识别林奇综合征患者（一种容易患结直肠癌、子宫内膜癌和其他癌症的遗传性疾病），可以为患者及其家人实施降低风险的策略。本研究的目的是描述加拿大新斯科舍省子宫内膜癌患者的筛查和测试实践，并确定该人群中林奇综合征的患病率。5 月 1 日期间在新斯科舍省诊断出的所有子宫内膜癌患者、2017年、2020年4月30日通过省妇科肿瘤数据库确定。省外患者被排除在外。我们收集了所有患者的年龄、体重指数、肿瘤错配修复蛋白免疫组织化学结果、个人和家族史以及种系检测信息。在研究期间，我们确定了 465 名被诊断患有子宫内膜癌的人。大多数人年龄在 51 岁或以上，患有肥胖症和低度早期子宫内膜样肿瘤。 444例（95.5%）进行了肿瘤免疫组化检测。根据当地标准，189 名患者符合遗传咨询资格，其中 156 名（82.5%）被转诊至医学遗传学。在接受种系检测的 98 名患者中，9 名（9.2%）被诊断为林奇综合征。该人群中林奇综合征的患病率至少为 1.9%（9/465）。我们的结果说明了通用肿瘤检测的成功实施；然而，在获得遗传咨询方面仍然存在差距。© 2023 CMA Impact Inc. 或其许可方。

Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.All patients diagnosed with endometrial cancer in Nova Scotia between May 1, 2017, and Apr. 30, 2020 were identified through a provincial gynecologic oncology database. Patients from out of province were excluded. We collected age, body mass index, tumour mismatch repair protein immunohistochemistry results, personal and family histories, and germline testing information for all patients.We identified 465 people diagosed with endometrial cancer during the study period. Most were aged 51 years or older, and had obesity and low-grade early-stage endometrioid tumours. Tumour immunohistochemistry testing was performed in 444 cases (95.5%). Based on local criteria, 189 patients were eligible for genetic counselling, of whom 156 (82.5%) were referred to medical genetics. Of the 98 patients who underwent germline testing, 9 (9.2%) were diagnosed with Lynch syndrome.The prevalence of Lynch syndrome was at least 1.9% (9/465) in this population. Our results illustrate successful implementation of universal tumour testing; however, there remains a gap in access to genetic counselling.© 2023 CMA Impact Inc. or its licensors.