Li-Fraumeni Syndrome/TP53 Biobank

Recruiting Observational Study
Li-Fraumeni Syndrome Li-Fraumeni-Like Syndrome
No Placebo Group Every participant receives an active treatment — no one gets a placebo. Healthy Volunteers Welcome You do not need to have the condition being studied to take part. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
300 (estimated)
Sponsor
Abramson Cancer Center at Penn Medicine · Other
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About This Trial
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene. Patients with classical LFS have a lifetime malignancy risk between 80-90%, with 21% of those cancers occurring by the age of 15 years. There are established guidelines for screening patients with LFS that have led to earlier detection and treatment of ca…
Trial Locations
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Eligibility Criteria
Inclusion Criteria: Affected Patient (Group 1) 1. Males or females aged 0 and above. 2. Confirmed germline TP53 mutation or variant. OR Family history of LFS and clinically managed as a LFS patient. OR Meet LFS diagnostic criteria including Classic, Chompret, and LFL (Birch and Eeles) criteria. 3.…
Contacts

Kara N Maxwell, MD, PhD

215-898-9698

LFS@pennmedicine.upenn.edu

CONTACT

Miche Duvall

LFS@chop.edu

CONTACT