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

Qualifiers

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 design

Treatments tested in this trial

  • Collection of personal and family history from CAFÉ Study participants

Treatment groups

No treatment groups listed