nderstanding the genetic causes and clinical aspects of being born with a mutation in the TP53 gene in Swede

Not Applicable

• Conditions: Germline TP53 mutation carriers; Genetic Diseases

• Registration Number: ISRCTN13103571
• Lead Sponsor: Stockholms Läns Landsting

Brief Summary

2019 Abstract results in https://www.abstractsonline.com/pp8/#!/7874/presentation/3031 conference abstract (added 11/10/2019) 2020 Other publications in https://pubmed.ncbi.nlm.nih.gov/31956380/ rationale and design (added 19/04/2021) 2023 Results article in https://pubmed.ncbi.nlm.nih.gov/36601958/ cancer worry, perceived benefits and risks to surveillance and overall health (added 07/11/2023) 2022 Results article in https://pubmed.ncbi.nlm.nih.gov/35053544/ sub-study of WB-MRI findings generated by the baseline examination (added 07/11/2023)

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2019-10-14
• Last Update Posted: 20 November 2023
• Study Completion: 2026-12-31

Recruitment & Eligibility

• Status: Ongoing
• Sex: All
• Target Recruitment: 60

Inclusion Criteria

1. All carriers of a pathogenic TP53 germline variant over the age of 15 years OR all children (0-18 years) who have 50% risk of inheriting a pathogenic TP53 germline variant
2. Able to provide informed consent

Exclusion Criteria

1. Individuals with a TP53 germline variant of unknown pathogenicity

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
TNM and clinical stage measured by reviewing medical records, histopathology and radiological reports