CTNNA1 Familial Expansion Study

Recruiting now

Conditions studied: Cancer Gene Mutation, Gastric Cancer, Breast Cancer

In brief

The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.

Key facts

Study ID

NCT05126290

Run by

Abramson Cancer Center at Penn Medicine

People needed

100

Starts

2021-03-16

Expected to finish

2028-01-01

Last updated by the study team

2026-02-05

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Abramson Cancer Center of the University of Pennsylvania — Philadelphia, Pennsylvania, United States (enrolling)

Full record on ClinicalTrials.gov

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