Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)
Dana-Farber Cancer Institute
Summary
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g. ACE/CHIP and mosaicism).
Description
This research study looks to enroll as many people with LFS or TP53 gene variants as possible in order to: * Better estimate cancer risks in individuals with TP53 variants or LFS, which is a rare condition. * Learn the range of cancer risks linked to TP53 variants to help individuals and families to improve our ability to counsel patients and families about cancer risks more accurately. * Improve opportunities for cancer prevention, early detection, and treatment. * Learn more about the meaning of TP53 variants in the blood that are not inherited (e.g. ACE/CHIP and mosaicism). Study procedur…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Individuals with a TP53 pathogenic or likely pathogenic variant identified in blood or saliva, * Individuals with variants of uncertain significance in TP53 may be eligible at the PI's discretion, * Blood relatives of individuals with a TP53 variant, who may be presumed obligate carriers or healthy controls, * Individuals who meet Classic or Chompret LFS criteria whether or not they have a TP53 gene variant, * Individuals may enroll their deceased relatives in the study. * Individuals with a known TP53 variant that is not LFS, but rather ACE, CHIP, or mosaicism. * Indivi…
Interventions
- GeneticData and Specimen Collection
* Provide research team and access to relevant medical records * Answer short questionnaires periodically * Consider consenting to other optional parts of the research such as: * Providing up to 3 tubes (15ml) of blood at or near the time of consent, as approved by treating physician (optional). * Provide a saliva sample (optional). * Provide eyebrow hairs for analysis of DNA from the bulb (15-20 eyebrow plucks) (optional). * Provide permission for obtainment of stored tissue specimens from cancer or pre-cancer surgeries or biopsies from the pathology departments where they have been stored (optional). * Consider inviting relatives to join the study (optional).
Locations (3)
- Boston Children's HospitalBoston, Massachusetts
- Brigham and Women's HospitalBoston, Massachusetts
- Judy E. GarberBoston, Massachusetts