CTNNA1 familial expansion study

Cafe study logo

Welcome to the CTNNA1  Familial Expansion Study (CAFÉ). This online international research registry is looking for patients and their families who can help expand our knowledge of the CTNNA1  gene. This study is being conducted through the Penn Medicine GI Cancer Genetics Program by investigators Bryson Katona MD, PhD and Dana Clark MD, LCGC.

If you are here, you have likely undergone genetic testing and were found to have a variant (change) in the CTNNA1  gene. The purpose of this study is to follow people with CTNNA1  variants so that researchers can more clearly understand the cancer risks associated with this newly identified gene, which will help us better understand how to manage cancer risk in families with this gene.

Why should I enroll?

  • Information about CTNNA1  is lacking which makes it challenging to care for patients with these variants.
  • Creation of an international registry of CTNNA1  carriers for long-term data collection will help better define the cancer risks associated with CTNNA1  variants and will aid in managing cancer risks for affected families.

Am I eligible?

  • If you are at least 18 years old and carry a specific type of CTNNA1  variant (called a loss-of-function variant) you may be eligible to participate in this research study
  • You will be contacted by the study team to obtain your genetic test results to determine if you are eligible.

What do I need to do to be in the CAFÉ study?

  • You will be asked to provide information to the study team about your personal and family health histories, your contact information and your genetic test results.
  • By providing your contact information, you can receive updates from researchers regarding CTNNA1  and the study team can contact you to obtain more information about you of your family in the future.

For more information you can visit clinicaltrials.gov.

How do I enroll

If you are interested in enrolling in the study, please provide your contact information using this Enrollment Form.

You may also contact the study team at CafeStudy@pennmedicine.upenn.edu.