Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers. Earlier identification of Lynch syndrome patients enables surveillance and might reduce the risk of cancer. It is important to explore whether today’s clinical care discovers patients with Lynch syndrome suitable for surveillance in time. This study aimed to describe what led to a diagnosis of Lynch syndrome in the cohort referred to the Hereditary Gastrointestinal Cancer Unit, Karolinska University Hospital, Solna, Sweden for gastrointestinal surveillance. This was a descriptive study. Data from 1975 to 2018 were collected and compiled as a database. Age at diagnosis was calculated from the date when a pathogenic MMR gene mutation was confirmed, from the period June 1994–September 2018. Data were collected from patient protocols prospectively during patient consultations and medical records retrospectively. Criteria for inclusion were registration at the outpatient clinic and a confirmed mismatch repair gene mutation. A total of 305 patients were eligible for inclusion. Three major reasons for diagnosis were identified: 1. Predictive testing of a previously known mutation in the family (62%, mean age 37), 2. A family history of Lynch associated tumours (9%, mean age 37), 3. A diagnosis of cancer (29%, mean age 51). The proportion diagnosed due to cancer has not changed over time. A high proportion of patients (29%) were identified with Lynch syndrome after they had been diagnosed with an associated cancer, which suggests that there is significant room for improvement in the diagnosis of patients with Lynch syndrome before cancer develops.

中文翻译：

---

改善的空间：在斯德哥尔摩一家高度专业的中心接受基因测试的林奇综合症患者中，已有三分之一患有癌症

林奇综合症是由失配修复基因中的种系突变引起的，其特征是大肠癌和其他癌症的家族聚集。早期识别Lynch综合征患者可以进行监视，并可以降低患癌症的风险。重要的是要探索当今的临床护理是否能及时发现适合监测的Lynch综合征患者。这项研究旨在描述导致该队列中林奇综合征诊断的原因，该队列被瑞典索尔纳卡罗林斯卡大学医院遗传性胃肠道癌科进行胃肠道监测。这是一项描述性研究。收集了1975年至2018年的数据并将其编译为数据库。从诊断出致病性MMR基因突变的日期开始计算诊断年龄，从1994年6月至2018年9月。回顾性地在患者咨询和病历中前瞻性地从患者方案中收集数据。纳入的标准是在门诊诊所注册并确认错配修复基因突变。共有305名患者符合纳入条件。确定了诊断的三个主要原因：1.对家族中先前已知突变的预测性测试（62％，平均年龄37）； 2。林奇相关肿瘤的家族史（9％，平均年龄37）； 3。A诊断癌症（29％，平均年龄51岁）。由于癌症而诊断出的比例没有随时间变化。在诊断出患有相关癌症后，有很大比例的患者（29％）被确定患有Lynch综合征，