Study on cancer risks linked to CTNNA1 gene mutations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The CAFÉ Study investigates the cancer risks associated with germline loss-of-function variants in the CTNNA1 gene, focusing on hereditary cancers such as gastric and breast cancer. By collecting personal and family history from individuals who carry these variants and their relatives, the study aims to clarify the cancer risks and explore potential genotype/phenotype correlations. This observational study will provide valuable insights for future cancer risk management for affected individuals.

Why it matters

Who can join: the full rules

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

Where it's running

• Abramson Cancer Center of the University of Pennsylvania
  Philadelphia, Pennsylvania, United States Recruiting

Study contacts

• Principal investigator: Bryson W Katona, MD, PhD — University of Pennsylvania
• Study coordinator: Bryson W Katona, MD, PhD
• Email: cafestudy@pennmedicine.upenn.edu
• Phone: 215-349-8222

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.