Back to search results

CTNNA1 Familial Expansion Study for Cancer Risk

This study, called the CAFÉ Study, is looking at the CTNNA1 gene to understand its connection to hereditary cancers like gastric (stomach) cancer and breast cancer. We are collecting personal and family health information from people who have a specific change (loss-of-function variant) in their CTNNA1 gene, or from their close relatives. This information will help us learn more about the cancer risks linked to this gene change and how different CTNNA1 changes might affect cancer development. The goal is to better manage cancer risks for individuals with these gene changes in the future. We plan to enroll about 100 participants.

Study design
This is an observational study, meaning participants' health information is collected without any specific treatments being given. The study aims to enroll 100 participants.
What's involved
You would provide your personal medical and genetic history, as well as relevant family history information, through an online data entry system.
Compensation
Not stated in the trial record.
Follow-up
The study will follow participants through completion, which is expected to average 1 year.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05126290

CTNNA1 Familial Expansion Study

Recruiting
Not specifiedAges 18+Observational
Abramson Cancer Center at Penn Medicine
~100 participants
Updated 2026-02-05 on ClinicalTrials.gov
What's tested:Collection of personal and family history from CAFÉ Study participants

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Rate of cancer amongst carriers of CTNNA1 loss-of-function variants
Measured over Through study completion, which will average 1 year
+1 more outcome measured

Conditions

Cancer Gene Mutation
Gastric Cancer
Breast Cancer

Explore related trials

Breast CarcinomaGastric CarcinomaCTNNA1 Gene

Where it's being run

1 sites across 1 states
Pennsylvania1

Study leadership

  • Bryson W Katona, MD, PhD · PRINCIPAL_INVESTIGATOR · University of Pennsylvania

Who to contact

Bryson W Katona, MD, PhD
[email protected]
215-349-8222
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

Do you actually qualify for this trial?

Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

Check eligibility for this trial ~2 min · HIPAA-protected · delete anytime
Eligibility criteria

Inclusion

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

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

What this trial measures

  • Rate of cancer amongst carriers of CTNNA1 loss-of-function variantsThrough study completion, which will average 1 year

    After collecting personal and family cancer history from enrolled participants, family pedigrees will be utilized to calculate cancer risk estimates for for CTNNA1 loss-of-function variant carriers including gastric cancer risk, breast cancer risk, as well as risk of other cancers currently not known to be associated with CTNNA1 variants gene.

  • Number of CTNNA1 genotypes associated with a cancer phenotypeThrough study completion, which will average 1 year

    Using collected family pedigrees from enrolled participants, we will correlate estimated cancer risk for CTNNA1 loss-of-function variant carriers with their CTNNA1 genotype, to determine if there is a significant genotype-phenotype correlation observed.