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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

Sponsor: Abramson Cancer Center at Penn Medicine · Participants: 100 · Started: Mar 16, 2021

Contact the study team

Official record on ClinicalTrials.gov — NCT05126290

Locations in the U.S.

PennsylvaniaAbramson 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.