Study on cancer risks linked to CTNNA1 gene mutations
CTNNA1 Familial Expansion (CAFÉ) Study
This study is trying to find out if certain gene changes in the CTNNA1 gene increase the risk of cancers like gastric and breast cancer for people who have these changes in their family.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Abramson Cancer Center at Penn Medicine Academic / other |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Trial ID | NCT05126290 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 18 and older who are carriers of CTNNA1 loss-of-function variants or first-degree relatives of such carriers.
Not a fit: Patients who do not carry a CTNNA1 loss-of-function variant and are not first-degree relatives of carriers may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of cancer risks for individuals with CTNNA1 mutations, leading to better risk management strategies.
How similar studies have performed: Other studies have shown success in identifying cancer risks associated with genetic mutations, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Philadelphia, Pennsylvania
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.