Background The current guidelines in Sweden regarding individuals with a clinically actionable (i.e. pathogenic or likely pathogenic) germline TP53 variant recommend patients to take part of the national Swedish P53 Study (SWEP53). Methods The study comprises a patient registry (mandatory for all participants) and three optional parts: a biobank, a surveillance program and a psychosocial evaluation of the surveillance. All known adult eligible carriers regardless of age are offered to take part of the surveillance program offering MRI yearly of the whole-body, breast, and brain as well as breast ultrasound. A special surveillance program is offered for individuals 15–18 years old with a 50% risk of being a mutation carrier or with a verified TP53 variation, includes ultrasound of the abdomen and urine corticosteroid profiles. Clinically motivated further examinations are performed upon need. The national inclusion is performed through the six clinical genetic units in Sweden at Umeå, Uppsala, Stockholm, Gothenburg, Linköping and Lund, and the surveillance is mainly performed through the oncology clinics. Results To date, a total of 41 adults and 11 children have been included in the study. Conclusions The SWEP53 is the first structured national surveillance program including radiological and clinical routines for TP53 mutation carriers in the Scandinavian setting. The aim of this publication is to present and describe the ongoing Swedish surveillance study to encourage the initiation of similar studies and to contribute to the knowledge of adequate clinical handling of these cancer prone families. Trial registration Trial registration number: ISRCTN13103571, retrospectively registered on 14/10/2019.

中文翻译：

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针对具有临床可操作的种系 TP53 变体的携带者的监测计划中的全身 MRI - 瑞典宪法 TP53 研究 SWEP53

背景 瑞典目前关于具有临床可操作（即致病性或可能致病性）种系 TP53 变异的个体的指南建议患者参加瑞典国家 P53 研究 (SWEP53)。方法 该研究包括患者登记（所有参与者都必须）和三个可选部分：生物库、监测计划和监测的社会心理评估。所有已知的符合条件的成年携带者，无论年龄大小，都可以参加监测计划，每年提供全身、乳房和大脑的 MRI 以及乳房超声检查。为 15-18 岁具有 50% 的突变携带者风险或经验证 TP53 变异的个体提供特殊监测计划，包括腹部超声和尿液皮质类固醇谱。根据需要进行有临床意义的进一步检查。全国纳入是通过瑞典于默奥、乌普萨拉、斯德哥尔摩、哥德堡、林雪平和隆德的六个临床基因单位进行的，监测主要通过肿瘤诊所进行。结果 迄今为止，共有 41 名成人和 11 名儿童参与了该研究。结论 SWEP53 是第一个结构化的国家监测计划，包括斯堪的纳维亚地区 TP53 突变携带者的放射学和临床常规。本出版物的目的是介绍和描述正在进行的瑞典监测研究，以鼓励开展类似的研究，并促进对这些易患癌症的家庭进行充分临床处理的知识。试用注册试用注册号：ISRCTN13103571，