CTNNA1 Familial Expansion Study
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorAbramson Cancer Center at Penn Medicine
About this trial
The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
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
Trial population
The CAFÉ Study will recruit individuals who carry a germline CTNNA1 loss-of-function variant as well as first degree relatives of germline CTNNA1 loss-of-function variant carriers.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Collection of personal and family history from CAFÉ Study participants
Other interventionPersonal medical and genetic history, as well as relevant information about family history, will be collected from participants in the CAFÉ Study through an online data entry system
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Rate of cancer amongst carriers of CTNNA1 loss-of-function variants
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.
Time frame
Through study completion, which will average 1 year2
Number of CTNNA1 genotypes associated with a cancer phenotype
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.
Time frame
Through study completion, which will average 1 yearSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov