Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53.

ABSTRACT:

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, inc

SUBMITTER: Omran M 

PROVIDER: S-EPMC6958585 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature