nderstanding the genetic causes and clinical aspects of being born with a mutation in the TP53 gene in Swede
- Conditions
- Germline TP53 mutation carriersGenetic 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
Recruitment & Eligibility
- Status
- Ongoing
- Sex
- All
- Target Recruitment
- 60
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
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
- Secondary Outcome Measures
Name Time Method