TP53 - Dec 2024

Project title:
Examination of phenotypic data in patients and families carrying the TP53 variant p.(Arg181His) or R181C variant for optimized surveillance strategies

Project leaders:
Karin Wadt (Rigshospitalet, Copenghagen) and Svetlana Lagercrantz (KI, Sweden)

Project Description:

Data collection: data will be collected from ERN GENTURIS centers on families and individuals carrying the TP53 R181H or R181C variant, both previously unpublished individuals and follow-up data on previously published families:

  • Detailed cancer history. Proband or non-proband
  • Phenotypic data focusing on cancer types and age of onset
  • Surveillance strategies used (e.g., breast MRI, WB-MRI) if a cancer has been identified by screening and outcome

Phenotypic Analysis:

  • Compare the frequency and spectrum of cancers in families carrying the TP53 R181H or R181C variant.
  • Focus on breast cancer penetrance and any association with other cancers and if families can be divided based on the phenotypic data.

Surveillance Strategy Assessment:

  • Evaluate the clinical outcomes of individuals undergoing surveillance
  • Analyse whether breast MRI alone has been sufficient for cancer detection

Start date: December 2024

Duration: TBD