Related Experiment Video
Updated: Jun 15, 2026
Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the
Meis Omran1, Lennart Blomqvist2,3, Yvonne Brandberg4
11Department of Oncology-Pathology, Karolinska Institutet SE-171 77 Stockholm, Sweden AND Cancer Theme, Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden.
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.
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