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CTNNA1 Familial Expansion Study
RecruitingObservational study
CTNNA1 Familial Expansion (CAFÉ) Study
Who can join
Ages 18 and older · All sexes
Full eligibility criteria
Inclusion Criteria: * 18 years of age and older * Participants must be carrier, or a first degree relative of a carrier, of a CTNNA1 loss-of-function variant defined as: a variant predicted to lead to protein truncation (nonsense and frameshift variants), a large deletion of one or more exons, or a consensus splice site variant predicted to disrupt splicing in CTNNA1. CTNNA1 loss-of-function variants do not need to be classified as pathogenic or likely pathogenic to be included. * Participants must be able to understand and read English * Participants must be able to provide informed verbal or written consent Exclusion Criteria: * Less than 18 years of age * Individuals who do not carry a CTNNA1 loss-of-function variant and are not a first degree relative of a CTNNA1 loss-of-function variant carrier. * Individuals who cannot speak and read English * Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation * Unable to comply with the study procedures as determined by the study investigators or study staff
About the study
The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.
What is being tested
- Collection of personal and family history from CAFÉ Study participants (other)
Sponsor: Abramson Cancer Center at Penn Medicine · Participants: 100 · Started: Mar 16, 2021
Contact the study team
- Bryson W Katona, MD, PhD · Phone: 215-349-8222
Official record on ClinicalTrials.gov — NCT05126290
Locations in the U.S.
| Pennsylvania | Abramson Cancer Center of the University of Pennsylvania, Philadelphia |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.